Canonical Allele Identifier: CA1327045507

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728766C= , CM000664.2:g.214728766C=	GRCh38
NC_000002.11:g.215593490C= , CM000664.1:g.215593490C=	GRCh37
NC_000002.10:g.215301735C=	NCBI36
NG_012047.2:g.85939G=
NG_012047.3:g.85946G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2244G= MANE Select	ENSP00000260947.4:p.Glu748=
ENST00000421162.2:c.891G=	ENSP00000392245.2:p.Glu297=
ENST00000613192.2:c.*307G=	ENSP00000483275.2:n.*307G=
ENST00000613374.5:c.834G=	ENSP00000484464.1:p.Glu278=
ENST00000613706.5:c.1836G=	ENSP00000484976.2:p.Glu612=
ENST00000617164.5:c.2187G=	ENSP00000480470.1:p.Glu729=
ENST00000619009.5:c.705G=	ENSP00000482293.1:p.Glu235=
ENST00000650978.1:c.3619G=
ENST00000260947.8:c.2244G=	ENSP00000260947.4:p.Glu748=
ENST00000432456.5:c.387G=
ENST00000455743.5:c.*1864G=	ENSP00000412186.1:n.*1864G=
ENST00000471590.5:n.579G=
ENST00000613192.1:c.414G=	ENSP00000483275.1:p.Glu138=
ENST00000613374.4:c.834G=	ENSP00000484464.1:p.Glu278=
ENST00000613706.4:c.891G=	ENSP00000484976.1:p.Glu297=
ENST00000617164.4:c.2187G=	ENSP00000480470.1:p.Glu729=
ENST00000619009.4:c.705G=	ENSP00000482293.1:p.Glu235=
ENST00000620057.4:c.*910G=	ENSP00000481988.1:n.*910G=
NM_000465.3:c.2244G=	NP_000456.2:p.Glu748=
NM_001282543.1:c.2187G=	NP_001269472.1:p.Glu729=
NM_001282545.1:c.891G=	NP_001269474.1:p.Glu297=
NM_001282548.1:c.834G=	NP_001269477.1:p.Glu278=
NM_001282549.1:c.705G=	NP_001269478.1:p.Glu235=
NR_104212.1:n.2237G=
NR_104215.1:n.2180G=
NR_104216.1:n.1436G=
XM_011511567.1:c.2190G=	XP_011509869.1:p.Glu730=
XM_017004613.1:c.2343G=	XP_016860102.1:p.Glu781=
XR_002959322.1:n.2610G=
NM_000465.4:c.2244G= MANE Select	NP_000456.2:p.Glu748=
NM_001282543.2:c.2187G=	NP_001269472.1:p.Glu729=
NM_001282545.2:c.891G=	NP_001269474.1:p.Glu297=
NM_001282548.2:c.834G=	NP_001269477.1:p.Glu278=
NM_001282549.2:c.705G=	NP_001269478.1:p.Glu235=
NR_104212.2:n.2209G=
NR_104215.2:n.2152G=
NR_104216.2:n.1408G=