Canonical Allele Identifier: CA1327045469

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728726A= , CM000664.2:g.214728726A=	GRCh38
NC_000002.11:g.215593450A= , CM000664.1:g.215593450A=	GRCh37
NC_000002.10:g.215301695A=	NCBI36
NG_012047.2:g.85979T=
NG_012047.3:g.85986T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2284T= MANE Select	ENSP00000260947.4:p.Trp762=
ENST00000421162.2:c.931T=	ENSP00000392245.2:p.Trp311=
ENST00000613192.2:c.*347T=	ENSP00000483275.2:n.*347T=
ENST00000613374.5:c.874T=	ENSP00000484464.1:p.Trp292=
ENST00000613706.5:c.1876T=	ENSP00000484976.2:p.Trp626=
ENST00000617164.5:c.2227T=	ENSP00000480470.1:p.Trp743=
ENST00000619009.5:c.745T=	ENSP00000482293.1:p.Trp249=
ENST00000650978.1:c.3659T=
ENST00000260947.8:c.2284T=	ENSP00000260947.4:p.Trp762=
ENST00000432456.5:c.427T=
ENST00000455743.5:c.*1904T=	ENSP00000412186.1:n.*1904T=
ENST00000471590.5:n.619T=
ENST00000613192.1:c.454T=	ENSP00000483275.1:p.Trp152=
ENST00000613374.4:c.874T=	ENSP00000484464.1:p.Trp292=
ENST00000613706.4:c.931T=	ENSP00000484976.1:p.Trp311=
ENST00000617164.4:c.2227T=	ENSP00000480470.1:p.Trp743=
ENST00000619009.4:c.745T=	ENSP00000482293.1:p.Trp249=
ENST00000620057.4:c.*950T=	ENSP00000481988.1:n.*950T=
NM_000465.3:c.2284T=	NP_000456.2:p.Trp762=
NM_001282543.1:c.2227T=	NP_001269472.1:p.Trp743=
NM_001282545.1:c.931T=	NP_001269474.1:p.Trp311=
NM_001282548.1:c.874T=	NP_001269477.1:p.Trp292=
NM_001282549.1:c.745T=	NP_001269478.1:p.Trp249=
NR_104212.1:n.2277T=
NR_104215.1:n.2220T=
NR_104216.1:n.1476T=
XM_011511567.1:c.2230T=	XP_011509869.1:p.Trp744=
XM_017004613.1:c.2383T=	XP_016860102.1:p.Trp795=
XR_002959322.1:n.2650T=
NM_000465.4:c.2284T= MANE Select	NP_000456.2:p.Trp762=
NM_001282543.2:c.2227T=	NP_001269472.1:p.Trp743=
NM_001282545.2:c.931T=	NP_001269474.1:p.Trp311=
NM_001282548.2:c.874T=	NP_001269477.1:p.Trp292=
NM_001282549.2:c.745T=	NP_001269478.1:p.Trp249=
NR_104212.2:n.2249T=
NR_104215.2:n.2192T=
NR_104216.2:n.1448T=