Canonical Allele Identifier: CA1327053659

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745759A= , CM000664.2:g.214745759A=	GRCh38
NC_000002.11:g.215610483A= , CM000664.1:g.215610483A=	GRCh37
NC_000002.10:g.215318728A=	NCBI36
NG_012047.2:g.68946T=
NG_012047.3:g.68953T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1773T= MANE Select	ENSP00000260947.4:p.Ile591=
ENST00000421162.2:c.420T=	ENSP00000392245.2:p.Ile140=
ENST00000613192.2:c.159-15251T=	ENSP00000483275.2:n.159-15251T=
ENST00000613374.5:c.363T=	ENSP00000484464.1:p.Ile121=
ENST00000613706.5:c.1365T=	ENSP00000484976.2:p.Ile455=
ENST00000617164.5:c.1716T=	ENSP00000480470.1:p.Ile572=
ENST00000619009.5:c.365-15251T=	ENSP00000482293.1:n.365-15251T=
ENST00000650978.1:c.3148T=
ENST00000260947.8:c.1773T=	ENSP00000260947.4:p.Ile591=
ENST00000421162.1:c.420T=	ENSP00000392245.1:p.Ile140=
ENST00000455743.5:c.*1393T=	ENSP00000412186.1:n.*1393T=
ENST00000465841.1:n.128T=
ENST00000613192.1:c.74-15251T=	ENSP00000483275.1:n.74-15251T=
ENST00000613374.4:c.363T=	ENSP00000484464.1:p.Ile121=
ENST00000613706.4:c.420T=	ENSP00000484976.1:p.Ile140=
ENST00000617164.4:c.1716T=	ENSP00000480470.1:p.Ile572=
ENST00000619009.4:c.365-15251T=	ENSP00000482293.1:n.365-15251T=
ENST00000620057.4:c.*439T=	ENSP00000481988.1:n.*439T=
NM_000465.3:c.1773T=	NP_000456.2:p.Ile591=
NM_001282543.1:c.1716T=	NP_001269472.1:p.Ile572=
NM_001282545.1:c.420T=	NP_001269474.1:p.Ile140=
NM_001282548.1:c.363T=	NP_001269477.1:p.Ile121=
NM_001282549.1:c.365-15251T=	NP_001269478.1:n.365-15251T=
NR_104212.1:n.1766T=
NR_104215.1:n.1709T=
NR_104216.1:n.965T=
XM_011511567.1:c.1719T=	XP_011509869.1:p.Ile573=
XM_011511568.1:c.1773T=	XP_011509870.1:p.Ile591=
XM_017004613.1:c.1872T=	XP_016860102.1:p.Ile624=
XM_017004614.1:c.1872T=	XP_016860103.1:p.Ile624=
XR_002959322.1:n.1963T=
NM_000465.4:c.1773T= MANE Select	NP_000456.2:p.Ile591=
NM_001282543.2:c.1716T=	NP_001269472.1:p.Ile572=
NM_001282545.2:c.420T=	NP_001269474.1:p.Ile140=
NM_001282548.2:c.363T=	NP_001269477.1:p.Ile121=
NM_001282549.2:c.365-15251T=	NP_001269478.1:n.365-15251T=
NR_104212.2:n.1738T=
NR_104215.2:n.1681T=
NR_104216.2:n.937T=