Canonical Allele Identifier: CA1327046355

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730418T= , CM000664.2:g.214730418T=	GRCh38
NC_000002.11:g.215595142T= , CM000664.1:g.215595142T=	GRCh37
NC_000002.10:g.215303387T=	NCBI36
NG_012047.2:g.84287A=
NG_012047.3:g.84294A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1994A= MANE Select	ENSP00000260947.4:p.Glu665=
ENST00000421162.2:c.641A=	ENSP00000392245.2:p.Glu214=
ENST00000613192.2:c.*57A=	ENSP00000483275.2:n.*57A=
ENST00000613374.5:c.584A=	ENSP00000484464.1:p.Glu195=
ENST00000613706.5:c.1586A=	ENSP00000484976.2:p.Glu529=
ENST00000617164.5:c.1937A=	ENSP00000480470.1:p.Glu646=
ENST00000619009.5:c.455A=	ENSP00000482293.1:p.Glu152=
ENST00000650978.1:c.3369A=
ENST00000260947.8:c.1994A=	ENSP00000260947.4:p.Glu665=
ENST00000421162.1:c.641A=	ENSP00000392245.1:p.Glu214=
ENST00000432456.5:c.91A=
ENST00000455743.5:c.*1614A=	ENSP00000412186.1:n.*1614A=
ENST00000471590.5:n.329A=
ENST00000613192.1:c.164A=	ENSP00000483275.1:p.Glu55=
ENST00000613374.4:c.584A=	ENSP00000484464.1:p.Glu195=
ENST00000613706.4:c.641A=	ENSP00000484976.1:p.Glu214=
ENST00000617164.4:c.1937A=	ENSP00000480470.1:p.Glu646=
ENST00000619009.4:c.455A=	ENSP00000482293.1:p.Glu152=
ENST00000620057.4:c.*660A=	ENSP00000481988.1:n.*660A=
NM_000465.3:c.1994A=	NP_000456.2:p.Glu665=
NM_001282543.1:c.1937A=	NP_001269472.1:p.Glu646=
NM_001282545.1:c.641A=	NP_001269474.1:p.Glu214=
NM_001282548.1:c.584A=	NP_001269477.1:p.Glu195=
NM_001282549.1:c.455A=	NP_001269478.1:p.Glu152=
NR_104212.1:n.1987A=
NR_104215.1:n.1930A=
NR_104216.1:n.1186A=
XM_011511567.1:c.1940A=	XP_011509869.1:p.Glu647=
XM_017004613.1:c.2093A=	XP_016860102.1:p.Glu698=
XR_002959322.1:n.2184A=
NM_000465.4:c.1994A= MANE Select	NP_000456.2:p.Glu665=
NM_001282543.2:c.1937A=	NP_001269472.1:p.Glu646=
NM_001282545.2:c.641A=	NP_001269474.1:p.Glu214=
NM_001282548.2:c.584A=	NP_001269477.1:p.Glu195=
NM_001282549.2:c.455A=	NP_001269478.1:p.Glu152=
NR_104212.2:n.1959A=
NR_104215.2:n.1902A=
NR_104216.2:n.1158A=