Canonical Allele Identifier: CA1327045462

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728717C= , CM000664.2:g.214728717C=	GRCh38
NC_000002.11:g.215593441C= , CM000664.1:g.215593441C=	GRCh37
NC_000002.10:g.215301686C=	NCBI36
NG_012047.2:g.85988G=
NG_012047.3:g.85995G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2293G= MANE Select	ENSP00000260947.4:p.Asp765=
ENST00000421162.2:c.940G=	ENSP00000392245.2:p.Asp314=
ENST00000613192.2:c.*356G=	ENSP00000483275.2:n.*356G=
ENST00000613374.5:c.883G=	ENSP00000484464.1:p.Asp295=
ENST00000613706.5:c.1885G=	ENSP00000484976.2:p.Asp629=
ENST00000617164.5:c.2236G=	ENSP00000480470.1:p.Asp746=
ENST00000619009.5:c.754G=	ENSP00000482293.1:p.Asp252=
ENST00000650978.1:c.3668G=
ENST00000260947.8:c.2293G=	ENSP00000260947.4:p.Asp765=
ENST00000432456.5:c.436G=
ENST00000455743.5:c.*1913G=	ENSP00000412186.1:n.*1913G=
ENST00000471590.5:n.628G=
ENST00000613192.1:c.463G=	ENSP00000483275.1:p.Asp155=
ENST00000613374.4:c.883G=	ENSP00000484464.1:p.Asp295=
ENST00000613706.4:c.940G=	ENSP00000484976.1:p.Asp314=
ENST00000617164.4:c.2236G=	ENSP00000480470.1:p.Asp746=
ENST00000619009.4:c.754G=	ENSP00000482293.1:p.Asp252=
ENST00000620057.4:c.*959G=	ENSP00000481988.1:n.*959G=
NM_000465.3:c.2293G=	NP_000456.2:p.Asp765=
NM_001282543.1:c.2236G=	NP_001269472.1:p.Asp746=
NM_001282545.1:c.940G=	NP_001269474.1:p.Asp314=
NM_001282548.1:c.883G=	NP_001269477.1:p.Asp295=
NM_001282549.1:c.754G=	NP_001269478.1:p.Asp252=
NR_104212.1:n.2286G=
NR_104215.1:n.2229G=
NR_104216.1:n.1485G=
XM_011511567.1:c.2239G=	XP_011509869.1:p.Asp747=
XM_017004613.1:c.2392G=	XP_016860102.1:p.Asp798=
XR_002959322.1:n.2659G=
NM_000465.4:c.2293G= MANE Select	NP_000456.2:p.Asp765=
NM_001282543.2:c.2236G=	NP_001269472.1:p.Asp746=
NM_001282545.2:c.940G=	NP_001269474.1:p.Asp314=
NM_001282548.2:c.883G=	NP_001269477.1:p.Asp295=
NM_001282549.2:c.754G=	NP_001269478.1:p.Asp252=
NR_104212.2:n.2258G=
NR_104215.2:n.2201G=
NR_104216.2:n.1457G=