Canonical Allele Identifier: CA1979712004

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510637T= , CM000673.2:g.66510637T=	GRCh38
NC_000011.9:g.66278108T= , CM000673.1:g.66278108T=	GRCh37
NC_000011.8:g.66034684T=	NCBI36
NG_009093.1:g.4990T=
NG_032068.1:g.35229T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.-23T= MANE Select	ENSP00000317469.7:n.-23T=
ENST00000318312.11:c.-23T=	ENSP00000317469.7:n.-23T=
ENST00000419755.3:c.159-376T=	ENSP00000398526.3:n.159-376T=
ENST00000525809.5:c.-23T=	ENSP00000431187.1:n.-23T=
ENST00000526760.5:c.-23T=	ENSP00000432140.1:n.-23T=
ENST00000526815.5:c.-419T=	ENSP00000436860.1:n.-419T=
ENST00000527251.5:c.-419T=	ENSP00000434360.1:n.-419T=
ENST00000533557.5:c.-23T=	ENSP00000434619.1:n.-23T=
ENST00000533644.5:c.-23T=	ENSP00000436073.1:n.-23T=
NM_024649.5:c.-23T= MANE Select	NP_078925.3:n.-23T=