Canonical Allele Identifier: CA1327076661

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792330G= , CM000664.2:g.214792330G=	GRCh38
NC_000002.11:g.215657054G= , CM000664.1:g.215657054G=	GRCh37
NC_000002.10:g.215365299G=	NCBI36
NG_012047.2:g.22375C=
NG_012047.3:g.22382C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.331C= MANE Select	ENSP00000260947.4:p.Leu111=
ENST00000421162.2:c.215+4731C=	ENSP00000392245.2:n.215+4731C=
ENST00000613192.2:c.158+17082C=	ENSP00000483275.2:n.158+17082C=
ENST00000613374.5:c.158+17082C=	ENSP00000484464.1:n.158+17082C=
ENST00000613706.5:c.331C=	ENSP00000484976.2:p.Leu111=
ENST00000617164.5:c.274C=	ENSP00000480470.1:p.Leu92=
ENST00000619009.5:c.331C=	ENSP00000482293.1:p.Leu111=
ENST00000650978.1:c.173C=
ENST00000260947.8:c.331C=	ENSP00000260947.4:p.Leu111=
ENST00000421162.1:c.215+4731C=	ENSP00000392245.1:n.215+4731C=
ENST00000455743.5:c.215+4731C=	ENSP00000412186.1:n.215+4731C=
ENST00000471787.1:n.260-10821C=
ENST00000613192.1:c.73+17082C=	ENSP00000483275.1:n.73+17082C=
ENST00000613374.4:c.158+17082C=	ENSP00000484464.1:n.158+17082C=
ENST00000613706.4:c.215+4731C=	ENSP00000484976.1:n.215+4731C=
ENST00000617164.4:c.274C=	ENSP00000480470.1:p.Leu92=
ENST00000619009.4:c.331C=	ENSP00000482293.1:p.Leu111=
ENST00000620057.4:c.331C=	ENSP00000481988.1:p.Leu111=
NM_000465.3:c.331C=	NP_000456.2:p.Leu111=
NM_001282543.1:c.274C=	NP_001269472.1:p.Leu92=
NM_001282545.1:c.215+4731C=	NP_001269474.1:n.215+4731C=
NM_001282548.1:c.158+17082C=	NP_001269477.1:n.158+17082C=
NM_001282549.1:c.331C=	NP_001269478.1:p.Leu111=
NR_104212.1:n.357+4731C=
NR_104215.1:n.301-10821C=
NR_104216.1:n.473C=
XM_011511567.1:c.277C=	XP_011509869.1:p.Leu93=
XM_011511568.1:c.331C=	XP_011509870.1:p.Leu111=
XM_017004613.1:c.430C=	XP_016860102.1:p.Leu144=
XM_017004614.1:c.430C=	XP_016860103.1:p.Leu144=
XR_002959322.1:n.521C=
NM_000465.4:c.331C= MANE Select	NP_000456.2:p.Leu111=
NM_001282543.2:c.274C=	NP_001269472.1:p.Leu92=
NM_001282545.2:c.215+4731C=	NP_001269474.1:n.215+4731C=
NM_001282548.2:c.158+17082C=	NP_001269477.1:n.158+17082C=
NM_001282549.2:c.331C=	NP_001269478.1:p.Leu111=
NR_104212.2:n.329+4731C=
NR_104215.2:n.273-10821C=
NR_104216.2:n.445C=