Canonical Allele Identifier: CA2614499267

Gene: BBS1

Linked Data

• gnomAD v4: 11-66519601-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519603del , CM000673.2:g.66519603del	GRCh38
NC_000011.9:g.66287074del , CM000673.1:g.66287074del	GRCh37
NC_000011.8:g.66043650del	NCBI36
NG_009093.1:g.13956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.592-14del MANE Select	ENSP00000317469.7:n.592-14del
ENST00000318312.11:c.592-14del	ENSP00000317469.7:n.592-14del
ENST00000393994.4:c.592-14del	ENSP00000377563.2:n.592-14del
ENST00000419755.3:c.703-14del	ENSP00000398526.3:n.703-14del
ENST00000455748.6:c.433-1667del	ENSP00000405764.2:n.433-1667del
ENST00000524458.5:c.*381-14del	ENSP00000436195.1:n.*381-14del
ENST00000524907.5:n.688-14del
ENST00000525809.5:c.319-14del	ENSP00000431187.1:n.319-14del
ENST00000526035.5:c.*299-18del	ENSP00000434197.1:n.*299-18del
ENST00000526760.5:c.*299-14del	ENSP00000432140.1:n.*299-14del
ENST00000527251.5:c.*299-14del	ENSP00000434360.1:n.*299-14del
ENST00000528543.1:n.114-14del
ENST00000529766.5:n.599-14del
ENST00000529953.5:n.244-14del
ENST00000529955.5:n.563-14del
ENST00000532908.5:c.*252-14del	ENSP00000431866.1:n.*252-14del
ENST00000533430.5:n.370-14del
ENST00000533557.5:c.*252-14del	ENSP00000434619.1:n.*252-14del
ENST00000533644.5:c.*50-14del	ENSP00000436073.1:n.*50-14del
ENST00000630659.2:c.*299-14del	ENSP00000486455.1:n.*299-14del
NM_024649.4:c.592-14del	NP_078925.3:n.592-14del
NM_024649.5:c.592-14del MANE Select	NP_078925.3:n.592-14del