Canonical Allele Identifier: CA1327045519

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728782C= , CM000664.2:g.214728782C=	GRCh38
NC_000002.11:g.215593506C= , CM000664.1:g.215593506C=	GRCh37
NC_000002.10:g.215301751C=	NCBI36
NG_012047.2:g.85923G=
NG_012047.3:g.85930G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2228G= MANE Select	ENSP00000260947.4:p.Cys743=
ENST00000421162.2:c.875G=	ENSP00000392245.2:p.Cys292=
ENST00000613192.2:c.*291G=	ENSP00000483275.2:n.*291G=
ENST00000613374.5:c.818G=	ENSP00000484464.1:p.Cys273=
ENST00000613706.5:c.1820G=	ENSP00000484976.2:p.Cys607=
ENST00000617164.5:c.2171G=	ENSP00000480470.1:p.Cys724=
ENST00000619009.5:c.689G=	ENSP00000482293.1:p.Cys230=
ENST00000650978.1:c.3603G=
ENST00000260947.8:c.2228G=	ENSP00000260947.4:p.Cys743=
ENST00000432456.5:c.371G=
ENST00000455743.5:c.*1848G=	ENSP00000412186.1:n.*1848G=
ENST00000471590.5:n.563G=
ENST00000613192.1:c.398G=	ENSP00000483275.1:p.Cys133=
ENST00000613374.4:c.818G=	ENSP00000484464.1:p.Cys273=
ENST00000613706.4:c.875G=	ENSP00000484976.1:p.Cys292=
ENST00000617164.4:c.2171G=	ENSP00000480470.1:p.Cys724=
ENST00000619009.4:c.689G=	ENSP00000482293.1:p.Cys230=
ENST00000620057.4:c.*894G=	ENSP00000481988.1:n.*894G=
NM_000465.3:c.2228G=	NP_000456.2:p.Cys743=
NM_001282543.1:c.2171G=	NP_001269472.1:p.Cys724=
NM_001282545.1:c.875G=	NP_001269474.1:p.Cys292=
NM_001282548.1:c.818G=	NP_001269477.1:p.Cys273=
NM_001282549.1:c.689G=	NP_001269478.1:p.Cys230=
NR_104212.1:n.2221G=
NR_104215.1:n.2164G=
NR_104216.1:n.1420G=
XM_011511567.1:c.2174G=	XP_011509869.1:p.Cys725=
XM_017004613.1:c.2327G=	XP_016860102.1:p.Cys776=
XR_002959322.1:n.2594G=
NM_000465.4:c.2228G= MANE Select	NP_000456.2:p.Cys743=
NM_001282543.2:c.2171G=	NP_001269472.1:p.Cys724=
NM_001282545.2:c.875G=	NP_001269474.1:p.Cys292=
NM_001282548.2:c.818G=	NP_001269477.1:p.Cys273=
NM_001282549.2:c.689G=	NP_001269478.1:p.Cys230=
NR_104212.2:n.2193G=
NR_104215.2:n.2136G=
NR_104216.2:n.1392G=