Canonical Allele Identifier: CA1490025992

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854769A= , CM000666.2:g.121854769A=	GRCh38
NC_000004.11:g.122775924A= , CM000666.1:g.122775924A=	GRCh37
NC_000004.10:g.122995374A=	NCBI36
NG_009111.1:g.20719T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.653T= MANE Select	ENSP00000264499.4:p.Leu218=
ENST00000264499.8:c.653T=	ENSP00000264499.4:p.Leu218=
ENST00000506636.1:c.653T=	ENSP00000423626.1:p.Leu218=
NM_018190.3:c.653T=	NP_060660.2:p.Leu218=
NM_176824.2:c.653T=	NP_789794.1:p.Leu218=
XM_005263106.2:c.656T=	XP_005263163.1:p.Leu219=
XM_011532079.1:c.701T=	XP_011530381.1:p.Leu234=
XM_011532080.1:c.698T=	XP_011530382.1:p.Leu233=
XM_011532081.1:c.701T=	XP_011530383.1:p.Leu234=
XM_005263106.4:c.656T=	XP_005263163.1:p.Leu219=
XM_011532079.3:c.701T=	XP_011530381.1:p.Leu234=
XM_011532080.3:c.698T=	XP_011530382.1:p.Leu233=
XM_011532081.3:c.701T=	XP_011530383.1:p.Leu234=
XM_017008357.2:c.653T=	XP_016863846.1:p.Leu218=
XM_017008358.2:c.656T=	XP_016863847.1:p.Leu219=
NM_176824.3:c.653T= MANE Select	NP_789794.1:p.Leu218=
NM_018190.4:c.653T=	NP_060660.2:p.Leu218=