Human (GRCh38.p14)
Description

Bardet-Biedl syndrome 7 [Source:HGNC Symbol;Acc:HGNC:18758]

Gene Synonyms

BBS2L1, FLJ10715

About this transcript

This transcript has 19 exons, is annotated with 7 domains and features, is associated with 18332 variant alleles and maps to 734 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000264499.9BBS7-2013840715aaENSP00000264499.4
 
Protein coding
CCDS3724Q8IWZ6-1 NM_176824.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000506636.1BBS7-2042570672aaENSP00000423626.1
 
Protein coding
CCDS54799Q8IWZ6-2 -GENCODE basicTSL:1
ENST00000507814.5BBS7-205734138aaENSP00000423250.1
 
Protein coding
H0Y973 -TSL:3CDS 5' incomplete
ENST00000505692.1BBS7-203752No protein-
 
Retained intron
--TSL:2
ENST00000502444.1BBS7-202725No protein-
 
Retained intron
--TSL:2
ENST00000508536.1BBS7-206164No protein-
 
Retained intron
--TSL:5
Statistics

Exons: 19, Coding exons: 19, Transcript length: 3,840 bps, Translation length: 715 residues

MANE

This MANE Select transcript contains ENSP00000264499 and matches to NM_176824.3 and NP_789794.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8IWZ6

CCDS

This transcript is a member of the Human CCDS set: CCDS3724

Transcript Support Level (TSL)

TSL:1

Version

ENST00000264499.9

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.