Canonical Allele Identifier: CA1327045632

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728927C= , CM000664.2:g.214728927C=	GRCh38
NC_000002.11:g.215593651C= , CM000664.1:g.215593651C=	GRCh37
NC_000002.10:g.215301896C=	NCBI36
NG_012047.2:g.85778G=
NG_012047.3:g.85785G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2083G= MANE Select	ENSP00000260947.4:p.Val695=
ENST00000421162.2:c.730G=	ENSP00000392245.2:p.Val244=
ENST00000613192.2:c.*146G=	ENSP00000483275.2:n.*146G=
ENST00000613374.5:c.673G=	ENSP00000484464.1:p.Val225=
ENST00000613706.5:c.1675G=	ENSP00000484976.2:p.Val559=
ENST00000617164.5:c.2026G=	ENSP00000480470.1:p.Val676=
ENST00000619009.5:c.544G=	ENSP00000482293.1:p.Val182=
ENST00000650978.1:c.3458G=
ENST00000260947.8:c.2083G=	ENSP00000260947.4:p.Val695=
ENST00000432456.5:c.226G=
ENST00000455743.5:c.*1703G=	ENSP00000412186.1:n.*1703G=
ENST00000471590.5:n.418G=
ENST00000613192.1:c.253G=	ENSP00000483275.1:p.Val85=
ENST00000613374.4:c.673G=	ENSP00000484464.1:p.Val225=
ENST00000613706.4:c.730G=	ENSP00000484976.1:p.Val244=
ENST00000617164.4:c.2026G=	ENSP00000480470.1:p.Val676=
ENST00000619009.4:c.544G=	ENSP00000482293.1:p.Val182=
ENST00000620057.4:c.*749G=	ENSP00000481988.1:n.*749G=
NM_000465.3:c.2083G=	NP_000456.2:p.Val695=
NM_001282543.1:c.2026G=	NP_001269472.1:p.Val676=
NM_001282545.1:c.730G=	NP_001269474.1:p.Val244=
NM_001282548.1:c.673G=	NP_001269477.1:p.Val225=
NM_001282549.1:c.544G=	NP_001269478.1:p.Val182=
NR_104212.1:n.2076G=
NR_104215.1:n.2019G=
NR_104216.1:n.1275G=
XM_011511567.1:c.2029G=	XP_011509869.1:p.Val677=
XM_017004613.1:c.2182G=	XP_016860102.1:p.Val728=
XR_002959322.1:n.2449G=
NM_000465.4:c.2083G= MANE Select	NP_000456.2:p.Val695=
NM_001282543.2:c.2026G=	NP_001269472.1:p.Val676=
NM_001282545.2:c.730G=	NP_001269474.1:p.Val244=
NM_001282548.2:c.673G=	NP_001269477.1:p.Val225=
NM_001282549.2:c.544G=	NP_001269478.1:p.Val182=
NR_104212.2:n.2048G=
NR_104215.2:n.1991G=
NR_104216.2:n.1247G=