Canonical Allele Identifier: CA1327045508

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728767T= , CM000664.2:g.214728767T=	GRCh38
NC_000002.11:g.215593491T= , CM000664.1:g.215593491T=	GRCh37
NC_000002.10:g.215301736T=	NCBI36
NG_012047.2:g.85938A=
NG_012047.3:g.85945A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2243A= MANE Select	ENSP00000260947.4:p.Glu748=
ENST00000421162.2:c.890A=	ENSP00000392245.2:p.Glu297=
ENST00000613192.2:c.*306A=	ENSP00000483275.2:n.*306A=
ENST00000613374.5:c.833A=	ENSP00000484464.1:p.Glu278=
ENST00000613706.5:c.1835A=	ENSP00000484976.2:p.Glu612=
ENST00000617164.5:c.2186A=	ENSP00000480470.1:p.Glu729=
ENST00000619009.5:c.704A=	ENSP00000482293.1:p.Glu235=
ENST00000650978.1:c.3618A=
ENST00000260947.8:c.2243A=	ENSP00000260947.4:p.Glu748=
ENST00000432456.5:c.386A=
ENST00000455743.5:c.*1863A=	ENSP00000412186.1:n.*1863A=
ENST00000471590.5:n.578A=
ENST00000613192.1:c.413A=	ENSP00000483275.1:p.Glu138=
ENST00000613374.4:c.833A=	ENSP00000484464.1:p.Glu278=
ENST00000613706.4:c.890A=	ENSP00000484976.1:p.Glu297=
ENST00000617164.4:c.2186A=	ENSP00000480470.1:p.Glu729=
ENST00000619009.4:c.704A=	ENSP00000482293.1:p.Glu235=
ENST00000620057.4:c.*909A=	ENSP00000481988.1:n.*909A=
NM_000465.3:c.2243A=	NP_000456.2:p.Glu748=
NM_001282543.1:c.2186A=	NP_001269472.1:p.Glu729=
NM_001282545.1:c.890A=	NP_001269474.1:p.Glu297=
NM_001282548.1:c.833A=	NP_001269477.1:p.Glu278=
NM_001282549.1:c.704A=	NP_001269478.1:p.Glu235=
NR_104212.1:n.2236A=
NR_104215.1:n.2179A=
NR_104216.1:n.1435A=
XM_011511567.1:c.2189A=	XP_011509869.1:p.Glu730=
XM_017004613.1:c.2342A=	XP_016860102.1:p.Glu781=
XR_002959322.1:n.2609A=
NM_000465.4:c.2243A= MANE Select	NP_000456.2:p.Glu748=
NM_001282543.2:c.2186A=	NP_001269472.1:p.Glu729=
NM_001282545.2:c.890A=	NP_001269474.1:p.Glu297=
NM_001282548.2:c.833A=	NP_001269477.1:p.Glu278=
NM_001282549.2:c.704A=	NP_001269478.1:p.Glu235=
NR_104212.2:n.2208A=
NR_104215.2:n.2151A=
NR_104216.2:n.1407A=