Canonical Allele Identifier: CA2582342076

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583569
• ClinVar RCV Id: RCV003334491

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728735dup , CM000664.2:g.214728735dup	GRCh38
NC_000002.11:g.215593459dup , CM000664.1:g.215593459dup	GRCh37
NC_000002.10:g.215301704dup	NCBI36
NG_012047.2:g.85971dup
NG_012047.3:g.85978dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2276dup MANE Select	ENSP00000260947.4:p.Ser760PhefsTer12
ENST00000421162.2:c.923dup	ENSP00000392245.2:p.Ser309PhefsTer12
ENST00000613192.2:c.*339dup	ENSP00000483275.2:n.*339dup
ENST00000613374.5:c.866dup	ENSP00000484464.1:p.Ser290PhefsTer12
ENST00000613706.5:c.1868dup	ENSP00000484976.2:p.Ser624PhefsTer12
ENST00000617164.5:c.2219dup	ENSP00000480470.1:p.Ser741PhefsTer12
ENST00000619009.5:c.737dup	ENSP00000482293.1:p.Ser247PhefsTer12
ENST00000650978.1:c.3651dup
ENST00000260947.8:c.2276dup	ENSP00000260947.4:p.Ser760PhefsTer12
ENST00000432456.5:c.419dup
ENST00000455743.5:c.*1896dup	ENSP00000412186.1:n.*1896dup
ENST00000471590.5:n.611dup
ENST00000613192.1:c.446dup	ENSP00000483275.1:p.Ser150PhefsTer12
ENST00000613374.4:c.866dup	ENSP00000484464.1:p.Ser290PhefsTer12
ENST00000613706.4:c.923dup	ENSP00000484976.1:p.Ser309PhefsTer12
ENST00000617164.4:c.2219dup	ENSP00000480470.1:p.Ser741PhefsTer12
ENST00000619009.4:c.737dup	ENSP00000482293.1:p.Ser247PhefsTer12
ENST00000620057.4:c.*942dup	ENSP00000481988.1:n.*942dup
NM_000465.3:c.2276dup	NP_000456.2:p.Ser760PhefsTer12
NM_001282543.1:c.2219dup	NP_001269472.1:p.Ser741PhefsTer12
NM_001282545.1:c.923dup	NP_001269474.1:p.Ser309PhefsTer12
NM_001282548.1:c.866dup	NP_001269477.1:p.Ser290PhefsTer12
NM_001282549.1:c.737dup	NP_001269478.1:p.Ser247PhefsTer12
NR_104212.1:n.2269dup
NR_104215.1:n.2212dup
NR_104216.1:n.1468dup
XM_011511567.1:c.2222dup	XP_011509869.1:p.Ser742PhefsTer12
XM_017004613.1:c.2375dup	XP_016860102.1:p.Ser793PhefsTer12
XR_002959322.1:n.2642dup
NM_000465.4:c.2276dup MANE Select	NP_000456.2:p.Ser760PhefsTer12
NM_001282543.2:c.2219dup	NP_001269472.1:p.Ser741PhefsTer12
NM_001282545.2:c.923dup	NP_001269474.1:p.Ser309PhefsTer12
NM_001282548.2:c.866dup	NP_001269477.1:p.Ser290PhefsTer12
NM_001282549.2:c.737dup	NP_001269478.1:p.Ser247PhefsTer12
NR_104212.2:n.2241dup
NR_104215.2:n.2184dup
NR_104216.2:n.1440dup