Canonical Allele Identifier: CA1327045477

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728735G= , CM000664.2:g.214728735G=	GRCh38
NC_000002.11:g.215593459G= , CM000664.1:g.215593459G=	GRCh37
NC_000002.10:g.215301704G=	NCBI36
NG_012047.2:g.85970C=
NG_012047.3:g.85977C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2275C= MANE Select	ENSP00000260947.4:p.Pro759=
ENST00000421162.2:c.922C=	ENSP00000392245.2:p.Pro308=
ENST00000613192.2:c.*338C=	ENSP00000483275.2:n.*338C=
ENST00000613374.5:c.865C=	ENSP00000484464.1:p.Pro289=
ENST00000613706.5:c.1867C=	ENSP00000484976.2:p.Pro623=
ENST00000617164.5:c.2218C=	ENSP00000480470.1:p.Pro740=
ENST00000619009.5:c.736C=	ENSP00000482293.1:p.Pro246=
ENST00000650978.1:c.3650C=
ENST00000260947.8:c.2275C=	ENSP00000260947.4:p.Pro759=
ENST00000432456.5:c.418C=
ENST00000455743.5:c.*1895C=	ENSP00000412186.1:n.*1895C=
ENST00000471590.5:n.610C=
ENST00000613192.1:c.445C=	ENSP00000483275.1:p.Pro149=
ENST00000613374.4:c.865C=	ENSP00000484464.1:p.Pro289=
ENST00000613706.4:c.922C=	ENSP00000484976.1:p.Pro308=
ENST00000617164.4:c.2218C=	ENSP00000480470.1:p.Pro740=
ENST00000619009.4:c.736C=	ENSP00000482293.1:p.Pro246=
ENST00000620057.4:c.*941C=	ENSP00000481988.1:n.*941C=
NM_000465.3:c.2275C=	NP_000456.2:p.Pro759=
NM_001282543.1:c.2218C=	NP_001269472.1:p.Pro740=
NM_001282545.1:c.922C=	NP_001269474.1:p.Pro308=
NM_001282548.1:c.865C=	NP_001269477.1:p.Pro289=
NM_001282549.1:c.736C=	NP_001269478.1:p.Pro246=
NR_104212.1:n.2268C=
NR_104215.1:n.2211C=
NR_104216.1:n.1467C=
XM_011511567.1:c.2221C=	XP_011509869.1:p.Pro741=
XM_017004613.1:c.2374C=	XP_016860102.1:p.Pro792=
XR_002959322.1:n.2641C=
NM_000465.4:c.2275C= MANE Select	NP_000456.2:p.Pro759=
NM_001282543.2:c.2218C=	NP_001269472.1:p.Pro740=
NM_001282545.2:c.922C=	NP_001269474.1:p.Pro308=
NM_001282548.2:c.865C=	NP_001269477.1:p.Pro289=
NM_001282549.2:c.736C=	NP_001269478.1:p.Pro246=
NR_104212.2:n.2240C=
NR_104215.2:n.2183C=
NR_104216.2:n.1439C=