Canonical Allele Identifier: CA1490026012

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854811C= , CM000666.2:g.121854811C=	GRCh38
NC_000004.11:g.122775966C= , CM000666.1:g.122775966C=	GRCh37
NC_000004.10:g.122995416C=	NCBI36
NG_009111.1:g.20677G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.611G= MANE Select	ENSP00000264499.4:p.Gly204=
ENST00000264499.8:c.611G=	ENSP00000264499.4:p.Gly204=
ENST00000506636.1:c.611G=	ENSP00000423626.1:p.Gly204=
NM_018190.3:c.611G=	NP_060660.2:p.Gly204=
NM_176824.2:c.611G=	NP_789794.1:p.Gly204=
XM_005263106.2:c.614G=	XP_005263163.1:p.Gly205=
XM_011532079.1:c.659G=	XP_011530381.1:p.Gly220=
XM_011532080.1:c.656G=	XP_011530382.1:p.Gly219=
XM_011532081.1:c.659G=	XP_011530383.1:p.Gly220=
XM_005263106.4:c.614G=	XP_005263163.1:p.Gly205=
XM_011532079.3:c.659G=	XP_011530381.1:p.Gly220=
XM_011532080.3:c.656G=	XP_011530382.1:p.Gly219=
XM_011532081.3:c.659G=	XP_011530383.1:p.Gly220=
XM_017008357.2:c.611G=	XP_016863846.1:p.Gly204=
XM_017008358.2:c.614G=	XP_016863847.1:p.Gly205=
NM_176824.3:c.611G= MANE Select	NP_789794.1:p.Gly204=
NM_018190.4:c.611G=	NP_060660.2:p.Gly204=