Canonical Allele Identifier: CA2614496728

Gene: BBS1

Linked Data

• gnomAD v4: 11-66510768-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510768C>T , CM000673.2:g.66510768C>T	GRCh38
NC_000011.9:g.66278239C>T , CM000673.1:g.66278239C>T	GRCh37
NC_000011.8:g.66034815C>T	NCBI36
NG_009093.1:g.5121C>T
NG_032068.1:g.35360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.47+62C>T MANE Select	ENSP00000317469.7:n.47+62C>T
ENST00000318312.11:c.47+62C>T	ENSP00000317469.7:n.47+62C>T
ENST00000393994.4:c.47+62C>T	ENSP00000377563.2:n.47+62C>T
ENST00000419755.3:c.159-245C>T	ENSP00000398526.3:n.159-245C>T
ENST00000455748.6:c.47+62C>T	ENSP00000405764.2:n.47+62C>T
ENST00000524907.5:n.37+62C>T
ENST00000525809.5:c.47+62C>T	ENSP00000431187.1:n.47+62C>T
ENST00000526035.5:c.47+62C>T	ENSP00000434197.1:n.47+62C>T
ENST00000526760.5:c.47+62C>T	ENSP00000432140.1:n.47+62C>T
ENST00000526815.5:c.-288C>T	ENSP00000436860.1:n.-288C>T
ENST00000527251.5:c.-288C>T	ENSP00000434360.1:n.-288C>T
ENST00000529766.5:n.54+62C>T
ENST00000529955.5:n.65+62C>T
ENST00000532908.5:c.47+62C>T	ENSP00000431866.1:n.47+62C>T
ENST00000533557.5:c.47+62C>T	ENSP00000434619.1:n.47+62C>T
ENST00000533644.5:c.47+62C>T	ENSP00000436073.1:n.47+62C>T
ENST00000534730.5:n.59+62C>T
ENST00000630659.2:c.47+62C>T	ENSP00000486455.1:n.47+62C>T
NM_024649.4:c.47+62C>T	NP_078925.3:n.47+62C>T
NM_024649.5:c.47+62C>T MANE Select	NP_078925.3:n.47+62C>T