Canonical Allele Identifier: CA1327053657

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745756A= , CM000664.2:g.214745756A=	GRCh38
NC_000002.11:g.215610480A= , CM000664.1:g.215610480A=	GRCh37
NC_000002.10:g.215318725A=	NCBI36
NG_012047.2:g.68949T=
NG_012047.3:g.68956T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1776T= MANE Select	ENSP00000260947.4:p.Leu592=
ENST00000421162.2:c.423T=	ENSP00000392245.2:p.Leu141=
ENST00000613192.2:c.159-15248T=	ENSP00000483275.2:n.159-15248T=
ENST00000613374.5:c.366T=	ENSP00000484464.1:p.Leu122=
ENST00000613706.5:c.1368T=	ENSP00000484976.2:p.Leu456=
ENST00000617164.5:c.1719T=	ENSP00000480470.1:p.Leu573=
ENST00000619009.5:c.365-15248T=	ENSP00000482293.1:n.365-15248T=
ENST00000650978.1:c.3151T=
ENST00000260947.8:c.1776T=	ENSP00000260947.4:p.Leu592=
ENST00000421162.1:c.423T=	ENSP00000392245.1:p.Leu141=
ENST00000455743.5:c.*1396T=	ENSP00000412186.1:n.*1396T=
ENST00000465841.1:n.131T=
ENST00000613192.1:c.74-15248T=	ENSP00000483275.1:n.74-15248T=
ENST00000613374.4:c.366T=	ENSP00000484464.1:p.Leu122=
ENST00000613706.4:c.423T=	ENSP00000484976.1:p.Leu141=
ENST00000617164.4:c.1719T=	ENSP00000480470.1:p.Leu573=
ENST00000619009.4:c.365-15248T=	ENSP00000482293.1:n.365-15248T=
ENST00000620057.4:c.*442T=	ENSP00000481988.1:n.*442T=
NM_000465.3:c.1776T=	NP_000456.2:p.Leu592=
NM_001282543.1:c.1719T=	NP_001269472.1:p.Leu573=
NM_001282545.1:c.423T=	NP_001269474.1:p.Leu141=
NM_001282548.1:c.366T=	NP_001269477.1:p.Leu122=
NM_001282549.1:c.365-15248T=	NP_001269478.1:n.365-15248T=
NR_104212.1:n.1769T=
NR_104215.1:n.1712T=
NR_104216.1:n.968T=
XM_011511567.1:c.1722T=	XP_011509869.1:p.Leu574=
XM_011511568.1:c.1776T=	XP_011509870.1:p.Leu592=
XM_017004613.1:c.1875T=	XP_016860102.1:p.Leu625=
XM_017004614.1:c.1875T=	XP_016860103.1:p.Leu625=
XR_002959322.1:n.1966T=
NM_000465.4:c.1776T= MANE Select	NP_000456.2:p.Leu592=
NM_001282543.2:c.1719T=	NP_001269472.1:p.Leu573=
NM_001282545.2:c.423T=	NP_001269474.1:p.Leu141=
NM_001282548.2:c.366T=	NP_001269477.1:p.Leu122=
NM_001282549.2:c.365-15248T=	NP_001269478.1:n.365-15248T=
NR_104212.2:n.1741T=
NR_104215.2:n.1684T=
NR_104216.2:n.940T=