Human (GRCh38.p14)
Description

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

Gene Synonyms

BBS2L1, FLJ10715

About this transcript

This transcript has 18 exons, is annotated with 6 domains and features, is associated with 17151 variant alleles and maps to 526 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: 18, Coding exons: 18, Transcript length: 2,570 bps, Translation length: 672 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8IWZ6

CCDS

This transcript is a member of the Human CCDS set: CCDS54799

Transcript Support Level (TSL)

TSL:1

Version

ENST00000506636.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

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