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Human (GRCh38.p14)
Description

Bardet-Biedl syndrome 1 [Source:HGNC Symbol;Acc:HGNC:966]

Gene Synonyms

FLJ23590

Location
About this transcript

This transcript has 17 exons, is annotated with 9 domains and features, is associated with 10722 variant alleles and maps to 366 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000318312.12BBS1-2013368593aaENSP00000317469.7
 
Protein coding
CCDS8142Q8NFJ9-1 NM_024649.5MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P4TSL:1
ENST00001136842.1BBS1-2573397593aaENSP00000806543.1
 
Protein coding
CCDS8142--Ensembl Canonical ExtendedGENCODE BasicAPPRIS P4
ENST00000851739.2BBS1-2343521635aaENSP00000521798.1
 
Protein coding
--GENCODE Basic
ENST00001122876.1BBS1-2553456575aaENSP00000792681.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00001122875.1BBS1-2543441587aaENSP00000792680.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000851731.2BBS1-2263439600aaENSP00000521790.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00000851734.2BBS1-2293423597aaENSP00000521793.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000967329.2BBS1-2423388591aaENSP00000637388.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00000851740.2BBS1-2353386590aaENSP00000521799.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00000851741.2BBS1-2363383583aaENSP00000521800.1
 
Protein coding
--GENCODE Basic
ENST00000851743.2BBS1-2383371585aaENSP00000521802.1
 
Protein coding
--GENCODE Basic
ENST00000933609.2BBS1-2393368578aaENSP00000603668.1
 
Protein coding
--GENCODE Basic
ENST00000851730.1BBS1-2253366573aaENSP00000521789.1
 
Protein coding
--GENCODE Basic
ENST00000967330.2BBS1-2433356580aaENSP00000637389.1
 
Protein coding
--GENCODE Basic
ENST00000851738.2BBS1-2333346576aaENSP00000521797.1
 
Protein coding
--GENCODE Basic
ENST00000851735.2BBS1-2303283549aaENSP00000521794.1
 
Protein coding
--GENCODE Basic
ENST00000851737.2BBS1-2323262548aaENSP00000521796.1
 
Protein coding
--GENCODE Basic
ENST00000967327.2BBS1-2403159509aaENSP00000637386.1
 
Protein coding
--GENCODE Basic
ENST00001116943.1BBS1-2523052584aaENSP00000786748.1
 
Protein coding
--GENCODE Basic
ENST00000851733.2BBS1-2283042464aaENSP00000521792.1
 
Protein coding
--GENCODE Basic
ENST00000851732.2BBS1-2272881420aaENSP00000521791.1
 
Protein coding
--GENCODE Basic
ENST00000851736.2BBS1-2312875412aaENSP00000521795.1
 
Protein coding
--GENCODE Basic
ENST00000967328.2BBS1-2412838405aaENSP00000637387.1
 
Protein coding
--GENCODE Basic
ENST00000851742.2BBS1-2372771385aaENSP00000521801.1
 
Protein coding
--GENCODE Basic
ENST00000393994.5BBS1-2021839446aaENSP00000377563.2
 
Protein coding
Q8NFJ9-3 -GENCODE PrimaryGENCODE BasicTSL:1
ENST00000455748.7BBS1-2031588496aaENSP00000405764.2
 
Protein coding
E7EQH1 -GENCODE BasicTSL:2
ENST00001116944.1BBS1-2531547451aaENSP00000786749.1
 
Protein coding
--GENCODE Basic
ENST00001115844.1BBS1-2511209364aaENSP00000785649.1
 
Protein coding
--GENCODE Basic
ENST00001110791.1BBS1-2501189267aaENSP00000780596.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000525809.5BBS1-208601192aaENSP00000431187.1
 
Protein coding
E9PMB7 -TSL:5CDS 3' incomplete
ENST00000526815.5BBS1-21158454aaENSP00000436860.1
 
Protein coding
E9PQD9 -TSL:3CDS 3' incomplete
ENST00001129283.1BBS1-25637987aaENSP00000799088.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000524705.2BBS1-20533366aaENSP00000436927.1
 
Protein coding
E9PPR3 -TSL:3CDS 3' incomplete
ENST00001048177.1BBS1-2454635201aaENSP00000717994.1
 
Nonsense mediated decay
---
ENST00000997200.1BBS1-244402885aaENSP00000667017.1
 
Nonsense mediated decay
---
ENST00001087880.1BBS1-2493769277aaENSP00000757686.1
 
Nonsense mediated decay
---
ENST00000526760.5BBS1-210358585aaENSP00000432140.1
 
Nonsense mediated decay
E9PJ28 -TSL:2
ENST00001048179.1BBS1-2473363358aaENSP00000717996.1
 
Nonsense mediated decay
---
ENST00001048178.1BBS1-2463362201aaENSP00000717995.1
 
Nonsense mediated decay
---
ENST00001087879.1BBS1-2483261290aaENSP00000757685.1
 
Nonsense mediated decay
---
ENST00000533557.5BBS1-222104385aaENSP00000434619.1
 
Nonsense mediated decay
E9PJ28 -TSL:2
ENST00000527251.5BBS1-212103455aaENSP00000434360.1
 
Nonsense mediated decay
E9PQK2 -TSL:3
ENST00000532908.5BBS1-220100185aaENSP00000431866.1
 
Nonsense mediated decay
E9PJ28 -TSL:5
ENST00000533644.5BBS1-223910164aaENSP00000436073.1
 
Nonsense mediated decay
E9PR55 -TSL:3
ENST00000524458.5BBS1-20489155aaENSP00000436195.1
 
Nonsense mediated decay
E9PQK2 -TSL:5
ENST00000526035.5BBS1-20982285aaENSP00000434197.1
 
Nonsense mediated decay
E9PJ28 -TSL:5
ENST00000529766.5BBS1-2151590No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000529953.5BBS1-217604No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000529955.5BBS1-2183437No protein-
 
Retained intron
--TSL:1
ENST00000533430.5BBS1-221844No protein-
 
Retained intron
--TSL:3
ENST00000524907.5BBS1-207828No protein-
 
Retained intron
--TSL:2
ENST00000527959.1BBS1-213734No protein-
 
Retained intron
--TSL:2
ENST00000534730.5BBS1-224627No protein-
 
Retained intron
--TSL:2
ENST00000532283.1BBS1-219590No protein-
 
Retained intron
--TSL:4
ENST00000524884.1BBS1-206572No protein-
 
Retained intron
--TSL:4
ENST00000529895.1BBS1-216560No protein-
 
Retained intron
--TSL:2
ENST00000528543.1BBS1-214384No protein-
 
Retained intron
--TSL:5

Protein domains for ENSP00000317469.7