Canonical Allele Identifier: CA1979712715

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66511171C= , CM000673.2:g.66511171C=	GRCh38
NC_000011.9:g.66278642C= , CM000673.1:g.66278642C=	GRCh37
NC_000011.8:g.66035218C=	NCBI36
NG_009093.1:g.5524C=
NG_032068.1:g.35763C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.125-34C= MANE Select	ENSP00000317469.7:n.125-34C=
ENST00000318312.11:c.125-34C=	ENSP00000317469.7:n.125-34C=
ENST00000393994.4:c.125-34C=	ENSP00000377563.2:n.125-34C=
ENST00000419755.3:c.236-34C=	ENSP00000398526.3:n.236-34C=
ENST00000455748.6:c.125-34C=	ENSP00000405764.2:n.125-34C=
ENST00000524458.5:c.34+82C=	ENSP00000436195.1:n.34+82C=
ENST00000524705.2:c.-55-34C=	ENSP00000436927.1:n.-55-34C=
ENST00000524907.5:n.115-34C=
ENST00000525809.5:c.125-34C=	ENSP00000431187.1:n.125-34C=
ENST00000526035.5:c.124+82C=	ENSP00000434197.1:n.124+82C=
ENST00000526760.5:c.124+82C=	ENSP00000432140.1:n.124+82C=
ENST00000526815.5:c.35-34C=	ENSP00000436860.1:n.35-34C=
ENST00000527251.5:c.34+82C=	ENSP00000434360.1:n.34+82C=
ENST00000529766.5:n.132-34C=
ENST00000529955.5:n.143-34C=
ENST00000532908.5:c.124+82C=	ENSP00000431866.1:n.124+82C=
ENST00000533557.5:c.124+82C=	ENSP00000434619.1:n.124+82C=
ENST00000533644.5:c.125-34C=	ENSP00000436073.1:n.125-34C=
ENST00000534730.5:n.137-34C=
ENST00000630659.2:c.124+82C=	ENSP00000486455.1:n.124+82C=
NM_024649.4:c.125-34C=	NP_078925.3:n.125-34C=
NM_024649.5:c.125-34C= MANE Select	NP_078925.3:n.125-34C=