Canonical Allele Identifier: CA1327045499

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728758C= , CM000664.2:g.214728758C=	GRCh38
NC_000002.11:g.215593482C= , CM000664.1:g.215593482C=	GRCh37
NC_000002.10:g.215301727C=	NCBI36
NG_012047.2:g.85947G=
NG_012047.3:g.85954G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2252G= MANE Select	ENSP00000260947.4:p.Arg751=
ENST00000421162.2:c.899G=	ENSP00000392245.2:p.Arg300=
ENST00000613192.2:c.*315G=	ENSP00000483275.2:n.*315G=
ENST00000613374.5:c.842G=	ENSP00000484464.1:p.Arg281=
ENST00000613706.5:c.1844G=	ENSP00000484976.2:p.Arg615=
ENST00000617164.5:c.2195G=	ENSP00000480470.1:p.Arg732=
ENST00000619009.5:c.713G=	ENSP00000482293.1:p.Arg238=
ENST00000650978.1:c.3627G=
ENST00000260947.8:c.2252G=	ENSP00000260947.4:p.Arg751=
ENST00000432456.5:c.395G=
ENST00000455743.5:c.*1872G=	ENSP00000412186.1:n.*1872G=
ENST00000471590.5:n.587G=
ENST00000613192.1:c.422G=	ENSP00000483275.1:p.Arg141=
ENST00000613374.4:c.842G=	ENSP00000484464.1:p.Arg281=
ENST00000613706.4:c.899G=	ENSP00000484976.1:p.Arg300=
ENST00000617164.4:c.2195G=	ENSP00000480470.1:p.Arg732=
ENST00000619009.4:c.713G=	ENSP00000482293.1:p.Arg238=
ENST00000620057.4:c.*918G=	ENSP00000481988.1:n.*918G=
NM_000465.3:c.2252G=	NP_000456.2:p.Arg751=
NM_001282543.1:c.2195G=	NP_001269472.1:p.Arg732=
NM_001282545.1:c.899G=	NP_001269474.1:p.Arg300=
NM_001282548.1:c.842G=	NP_001269477.1:p.Arg281=
NM_001282549.1:c.713G=	NP_001269478.1:p.Arg238=
NR_104212.1:n.2245G=
NR_104215.1:n.2188G=
NR_104216.1:n.1444G=
XM_011511567.1:c.2198G=	XP_011509869.1:p.Arg733=
XM_017004613.1:c.2351G=	XP_016860102.1:p.Arg784=
XR_002959322.1:n.2618G=
NM_000465.4:c.2252G= MANE Select	NP_000456.2:p.Arg751=
NM_001282543.2:c.2195G=	NP_001269472.1:p.Arg732=
NM_001282545.2:c.899G=	NP_001269474.1:p.Arg300=
NM_001282548.2:c.842G=	NP_001269477.1:p.Arg281=
NM_001282549.2:c.713G=	NP_001269478.1:p.Arg238=
NR_104212.2:n.2217G=
NR_104215.2:n.2160G=
NR_104216.2:n.1416G=