Canonical Allele Identifier: CA1327045521

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728784C= , CM000664.2:g.214728784C=	GRCh38
NC_000002.11:g.215593508C= , CM000664.1:g.215593508C=	GRCh37
NC_000002.10:g.215301753C=	NCBI36
NG_012047.2:g.85921G=
NG_012047.3:g.85928G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2226G= MANE Select	ENSP00000260947.4:p.Leu742=
ENST00000421162.2:c.873G=	ENSP00000392245.2:p.Leu291=
ENST00000613192.2:c.*289G=	ENSP00000483275.2:n.*289G=
ENST00000613374.5:c.816G=	ENSP00000484464.1:p.Leu272=
ENST00000613706.5:c.1818G=	ENSP00000484976.2:p.Leu606=
ENST00000617164.5:c.2169G=	ENSP00000480470.1:p.Leu723=
ENST00000619009.5:c.687G=	ENSP00000482293.1:p.Leu229=
ENST00000650978.1:c.3601G=
ENST00000260947.8:c.2226G=	ENSP00000260947.4:p.Leu742=
ENST00000432456.5:c.369G=
ENST00000455743.5:c.*1846G=	ENSP00000412186.1:n.*1846G=
ENST00000471590.5:n.561G=
ENST00000613192.1:c.396G=	ENSP00000483275.1:p.Leu132=
ENST00000613374.4:c.816G=	ENSP00000484464.1:p.Leu272=
ENST00000613706.4:c.873G=	ENSP00000484976.1:p.Leu291=
ENST00000617164.4:c.2169G=	ENSP00000480470.1:p.Leu723=
ENST00000619009.4:c.687G=	ENSP00000482293.1:p.Leu229=
ENST00000620057.4:c.*892G=	ENSP00000481988.1:n.*892G=
NM_000465.3:c.2226G=	NP_000456.2:p.Leu742=
NM_001282543.1:c.2169G=	NP_001269472.1:p.Leu723=
NM_001282545.1:c.873G=	NP_001269474.1:p.Leu291=
NM_001282548.1:c.816G=	NP_001269477.1:p.Leu272=
NM_001282549.1:c.687G=	NP_001269478.1:p.Leu229=
NR_104212.1:n.2219G=
NR_104215.1:n.2162G=
NR_104216.1:n.1418G=
XM_011511567.1:c.2172G=	XP_011509869.1:p.Leu724=
XM_017004613.1:c.2325G=	XP_016860102.1:p.Leu775=
XR_002959322.1:n.2592G=
NM_000465.4:c.2226G= MANE Select	NP_000456.2:p.Leu742=
NM_001282543.2:c.2169G=	NP_001269472.1:p.Leu723=
NM_001282545.2:c.873G=	NP_001269474.1:p.Leu291=
NM_001282548.2:c.816G=	NP_001269477.1:p.Leu272=
NM_001282549.2:c.687G=	NP_001269478.1:p.Leu229=
NR_104212.2:n.2191G=
NR_104215.2:n.2134G=
NR_104216.2:n.1390G=