Canonical Allele Identifier: CA1979712026

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510657A= , CM000673.2:g.66510657A=	GRCh38
NC_000011.9:g.66278128A= , CM000673.1:g.66278128A=	GRCh37
NC_000011.8:g.66034704A=	NCBI36
NG_009093.1:g.5010A=
NG_032068.1:g.35249A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.-3A= MANE Select	ENSP00000317469.7:n.-3A=
ENST00000318312.11:c.-3A=	ENSP00000317469.7:n.-3A=
ENST00000393994.4:c.-3A=	ENSP00000377563.2:n.-3A=
ENST00000419755.3:c.159-356A=	ENSP00000398526.3:n.159-356A=
ENST00000455748.6:c.-3A=	ENSP00000405764.2:n.-3A=
ENST00000525809.5:c.-3A=	ENSP00000431187.1:n.-3A=
ENST00000526035.5:c.-3A=	ENSP00000434197.1:n.-3A=
ENST00000526760.5:c.-3A=	ENSP00000432140.1:n.-3A=
ENST00000526815.5:c.-399A=	ENSP00000436860.1:n.-399A=
ENST00000527251.5:c.-399A=	ENSP00000434360.1:n.-399A=
ENST00000529766.5:n.5A=
ENST00000529955.5:n.16A=
ENST00000532908.5:c.-3A=	ENSP00000431866.1:n.-3A=
ENST00000533557.5:c.-3A=	ENSP00000434619.1:n.-3A=
ENST00000533644.5:c.-3A=	ENSP00000436073.1:n.-3A=
ENST00000534730.5:n.10A=
ENST00000630659.2:c.-3A=	ENSP00000486455.1:n.-3A=
NM_024649.4:c.-3A=	NP_078925.3:n.-3A=
NM_024649.5:c.-3A= MANE Select	NP_078925.3:n.-3A=