Canonical Allele Identifier: CA2614499066

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515773-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515773G>T , CM000673.2:g.66515773G>T	GRCh38
NC_000011.9:g.66283244G>T , CM000673.1:g.66283244G>T	GRCh37
NC_000011.8:g.66039820G>T	NCBI36
NG_009093.1:g.10126G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.518+42G>T MANE Select	ENSP00000317469.7:n.518+42G>T
ENST00000318312.11:c.518+42G>T	ENSP00000317469.7:n.518+42G>T
ENST00000393994.4:c.518+42G>T	ENSP00000377563.2:n.518+42G>T
ENST00000419755.3:c.629+42G>T	ENSP00000398526.3:n.629+42G>T
ENST00000455748.6:c.432+1095G>T	ENSP00000405764.2:n.432+1095G>T
ENST00000524458.5:c.*220G>T	ENSP00000436195.1:n.*220G>T
ENST00000524907.5:n.614+42G>T
ENST00000525809.5:c.245+42G>T	ENSP00000431187.1:n.245+42G>T
ENST00000526035.5:c.*225+42G>T	ENSP00000434197.1:n.*225+42G>T
ENST00000526760.5:c.*225+42G>T	ENSP00000432140.1:n.*225+42G>T
ENST00000527251.5:c.*225+42G>T	ENSP00000434360.1:n.*225+42G>T
ENST00000528543.1:n.40+42G>T
ENST00000529766.5:n.525+42G>T
ENST00000529953.5:n.170+42G>T
ENST00000529955.5:n.489+42G>T
ENST00000532908.5:c.*178+42G>T	ENSP00000431866.1:n.*178+42G>T
ENST00000533430.5:n.296+42G>T
ENST00000533557.5:c.*178+42G>T	ENSP00000434619.1:n.*178+42G>T
ENST00000533644.5:c.471+42G>T	ENSP00000436073.1:n.471+42G>T
ENST00000534730.5:n.572G>T
ENST00000630659.2:c.*225+42G>T	ENSP00000486455.1:n.*225+42G>T
NM_024649.4:c.518+42G>T	NP_078925.3:n.518+42G>T
NM_024649.5:c.518+42G>T MANE Select	NP_078925.3:n.518+42G>T