Human (GRCh38.p14)
Description

Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:HGNC:969]

Location
About this transcript

This transcript has 15 exons, is annotated with 23 domains and features, is associated with 24206 variant alleles and maps to 617 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000268057.9BBS4-2012467519aaENSP00000268057.4
 
Protein coding
CCDS10246Q96RK4-1 NM_033028.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000395205.6BBS4-2022450347aaENSP00000378631.3
 
Protein coding
CCDS58377Q96RK4-3 -GENCODE basicTSL:1
ENST00000569338.5BBS4-217843281aaENSP00000456758.1
 
Protein coding
H3BSL2 -TSL:5CDS 5' and 3' incomplete
ENST00000566829.1BBS4-211551141aaENSP00000455958.1
 
Protein coding
H3BQV7 -TSL:4CDS 3' incomplete
ENST00000566197.1BBS4-209541180aaENSP00000457479.1
 
Protein coding
H3BU58 -TSL:3CDS 5' and 3' incomplete
ENST00000566400.5BBS4-210205520aaENSP00000456759.1
 
Nonsense mediated decay
H3BRY9 -TSL:1
ENST00000567279.5BBS4-213187667aaENSP00000456664.1
 
Nonsense mediated decay
H3BSE2 -TSL:2
ENST00000562084.5BBS4-204186477aaENSP00000454718.1
 
Nonsense mediated decay
H3BN76 -TSL:1
ENST00000561914.5BBS4-203777103aaENSP00000457795.1
 
Nonsense mediated decay
H3BUU1 -TSL:5
ENST00000565160.5BBS4-208681142aaENSP00000455412.1
 
Nonsense mediated decay
H3BPP7 -TSL:3
ENST00000569440.5BBS4-21857933aaENSP00000457958.1
 
Nonsense mediated decay
H3BV56 -TSL:4
ENST00000566938.5BBS4-21256320aaENSP00000456463.1
 
Nonsense mediated decay
H3BRY9 -TSL:4
ENST00000563600.5BBS4-20655750aaENSP00000457753.1
 
Nonsense mediated decay
H3BUQ7 -TSL:4
ENST00000564239.1BBS4-207527No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000569001.1BBS4-215349No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000562219.1BBS4-2051004No protein-
 
Retained intron
--TSL:1
ENST00000568535.1BBS4-214781No protein-
 
Retained intron
--TSL:2
ENST00000569151.1BBS4-216272No protein-
 
Retained intron
--TSL:3

Protein domains for ENSP00000378631.3