Canonical Allele Identifier: CA1327045500

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728759G= , CM000664.2:g.214728759G=	GRCh38
NC_000002.11:g.215593483G= , CM000664.1:g.215593483G=	GRCh37
NC_000002.10:g.215301728G=	NCBI36
NG_012047.2:g.85946C=
NG_012047.3:g.85953C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2251C= MANE Select	ENSP00000260947.4:p.Arg751=
ENST00000421162.2:c.898C=	ENSP00000392245.2:p.Arg300=
ENST00000613192.2:c.*314C=	ENSP00000483275.2:n.*314C=
ENST00000613374.5:c.841C=	ENSP00000484464.1:p.Arg281=
ENST00000613706.5:c.1843C=	ENSP00000484976.2:p.Arg615=
ENST00000617164.5:c.2194C=	ENSP00000480470.1:p.Arg732=
ENST00000619009.5:c.712C=	ENSP00000482293.1:p.Arg238=
ENST00000650978.1:c.3626C=
ENST00000260947.8:c.2251C=	ENSP00000260947.4:p.Arg751=
ENST00000432456.5:c.394C=
ENST00000455743.5:c.*1871C=	ENSP00000412186.1:n.*1871C=
ENST00000471590.5:n.586C=
ENST00000613192.1:c.421C=	ENSP00000483275.1:p.Arg141=
ENST00000613374.4:c.841C=	ENSP00000484464.1:p.Arg281=
ENST00000613706.4:c.898C=	ENSP00000484976.1:p.Arg300=
ENST00000617164.4:c.2194C=	ENSP00000480470.1:p.Arg732=
ENST00000619009.4:c.712C=	ENSP00000482293.1:p.Arg238=
ENST00000620057.4:c.*917C=	ENSP00000481988.1:n.*917C=
NM_000465.3:c.2251C=	NP_000456.2:p.Arg751=
NM_001282543.1:c.2194C=	NP_001269472.1:p.Arg732=
NM_001282545.1:c.898C=	NP_001269474.1:p.Arg300=
NM_001282548.1:c.841C=	NP_001269477.1:p.Arg281=
NM_001282549.1:c.712C=	NP_001269478.1:p.Arg238=
NR_104212.1:n.2244C=
NR_104215.1:n.2187C=
NR_104216.1:n.1443C=
XM_011511567.1:c.2197C=	XP_011509869.1:p.Arg733=
XM_017004613.1:c.2350C=	XP_016860102.1:p.Arg784=
XR_002959322.1:n.2617C=
NM_000465.4:c.2251C= MANE Select	NP_000456.2:p.Arg751=
NM_001282543.2:c.2194C=	NP_001269472.1:p.Arg732=
NM_001282545.2:c.898C=	NP_001269474.1:p.Arg300=
NM_001282548.2:c.841C=	NP_001269477.1:p.Arg281=
NM_001282549.2:c.712C=	NP_001269478.1:p.Arg238=
NR_104212.2:n.2216C=
NR_104215.2:n.2159C=
NR_104216.2:n.1415C=