Canonical Allele Identifier: CA1327045595

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728874G= , CM000664.2:g.214728874G=	GRCh38
NC_000002.11:g.215593598G= , CM000664.1:g.215593598G=	GRCh37
NC_000002.10:g.215301843G=	NCBI36
NG_012047.2:g.85831C=
NG_012047.3:g.85838C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2136C= MANE Select	ENSP00000260947.4:p.Asp712=
ENST00000421162.2:c.783C=	ENSP00000392245.2:p.Asp261=
ENST00000613192.2:c.*199C=	ENSP00000483275.2:n.*199C=
ENST00000613374.5:c.726C=	ENSP00000484464.1:p.Asp242=
ENST00000613706.5:c.1728C=	ENSP00000484976.2:p.Asp576=
ENST00000617164.5:c.2079C=	ENSP00000480470.1:p.Asp693=
ENST00000619009.5:c.597C=	ENSP00000482293.1:p.Asp199=
ENST00000650978.1:c.3511C=
ENST00000260947.8:c.2136C=	ENSP00000260947.4:p.Asp712=
ENST00000432456.5:c.279C=
ENST00000455743.5:c.*1756C=	ENSP00000412186.1:n.*1756C=
ENST00000471590.5:n.471C=
ENST00000613192.1:c.306C=	ENSP00000483275.1:p.Asp102=
ENST00000613374.4:c.726C=	ENSP00000484464.1:p.Asp242=
ENST00000613706.4:c.783C=	ENSP00000484976.1:p.Asp261=
ENST00000617164.4:c.2079C=	ENSP00000480470.1:p.Asp693=
ENST00000619009.4:c.597C=	ENSP00000482293.1:p.Asp199=
ENST00000620057.4:c.*802C=	ENSP00000481988.1:n.*802C=
NM_000465.3:c.2136C=	NP_000456.2:p.Asp712=
NM_001282543.1:c.2079C=	NP_001269472.1:p.Asp693=
NM_001282545.1:c.783C=	NP_001269474.1:p.Asp261=
NM_001282548.1:c.726C=	NP_001269477.1:p.Asp242=
NM_001282549.1:c.597C=	NP_001269478.1:p.Asp199=
NR_104212.1:n.2129C=
NR_104215.1:n.2072C=
NR_104216.1:n.1328C=
XM_011511567.1:c.2082C=	XP_011509869.1:p.Asp694=
XM_017004613.1:c.2235C=	XP_016860102.1:p.Asp745=
XR_002959322.1:n.2502C=
NM_000465.4:c.2136C= MANE Select	NP_000456.2:p.Asp712=
NM_001282543.2:c.2079C=	NP_001269472.1:p.Asp693=
NM_001282545.2:c.783C=	NP_001269474.1:p.Asp261=
NM_001282548.2:c.726C=	NP_001269477.1:p.Asp242=
NM_001282549.2:c.597C=	NP_001269478.1:p.Asp199=
NR_104212.2:n.2101C=
NR_104215.2:n.2044C=
NR_104216.2:n.1300C=