Canonical Allele Identifier: CA2580065599

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1929293
• ClinVar RCV Id: RCV002618633 ; RCV003365761

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745129_214745132dup , CM000664.2:g.214745129_214745132dup	GRCh38
NC_000002.11:g.215609853_215609856dup , CM000664.1:g.215609853_215609856dup	GRCh37
NC_000002.10:g.215318098_215318101dup	NCBI36
NG_012047.2:g.69573_69576dup
NG_012047.3:g.69580_69583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1838_1841dup MANE Select	ENSP00000260947.4:p.Gln615SerfsTer21
ENST00000421162.2:c.485_488dup	ENSP00000392245.2:p.Gln164SerfsTer21
ENST00000613192.2:c.159-14624_159-14621dup	ENSP00000483275.2:n.159-14624_159-14621dup
ENST00000613374.5:c.428_431dup	ENSP00000484464.1:p.Gln145SerfsTer21
ENST00000613706.5:c.1430_1433dup	ENSP00000484976.2:p.Gln479SerfsTer21
ENST00000617164.5:c.1781_1784dup	ENSP00000480470.1:p.Gln596SerfsTer21
ENST00000619009.5:c.365-14624_365-14621dup	ENSP00000482293.1:n.365-14624_365-14621dup
ENST00000650978.1:c.3213_3216dup
ENST00000260947.8:c.1838_1841dup	ENSP00000260947.4:p.Gln615SerfsTer21
ENST00000421162.1:c.485_488dup	ENSP00000392245.1:p.Gln164SerfsTer21
ENST00000455743.5:c.*1458_*1461dup	ENSP00000412186.1:n.*1458_*1461dup
ENST00000613192.1:c.74-14624_74-14621dup	ENSP00000483275.1:n.74-14624_74-14621dup
ENST00000613374.4:c.428_431dup	ENSP00000484464.1:p.Gln145SerfsTer21
ENST00000613706.4:c.485_488dup	ENSP00000484976.1:p.Gln164SerfsTer21
ENST00000617164.4:c.1781_1784dup	ENSP00000480470.1:p.Gln596SerfsTer21
ENST00000619009.4:c.365-14624_365-14621dup	ENSP00000482293.1:n.365-14624_365-14621dup
ENST00000620057.4:c.*504_*507dup	ENSP00000481988.1:n.*504_*507dup
NM_000465.3:c.1838_1841dup	NP_000456.2:p.Gln615SerfsTer21
NM_001282543.1:c.1781_1784dup	NP_001269472.1:p.Gln596SerfsTer21
NM_001282545.1:c.485_488dup	NP_001269474.1:p.Gln164SerfsTer21
NM_001282548.1:c.428_431dup	NP_001269477.1:p.Gln145SerfsTer21
NM_001282549.1:c.365-14624_365-14621dup	NP_001269478.1:n.365-14624_365-14621dup
NR_104212.1:n.1831_1834dup
NR_104215.1:n.1774_1777dup
NR_104216.1:n.1030_1033dup
XM_011511567.1:c.1784_1787dup	XP_011509869.1:p.Gln597SerfsTer21
XM_011511568.1:c.1838_1841dup	XP_011509870.1:p.Gln615SerfsTer21
XM_017004613.1:c.1937_1940dup	XP_016860102.1:p.Gln648SerfsTer21
XM_017004614.1:c.1937_1940dup	XP_016860103.1:p.Gln648SerfsTer21
XR_002959322.1:n.2028_2031dup
NM_000465.4:c.1838_1841dup MANE Select	NP_000456.2:p.Gln615SerfsTer21
NM_001282543.2:c.1781_1784dup	NP_001269472.1:p.Gln596SerfsTer21
NM_001282545.2:c.485_488dup	NP_001269474.1:p.Gln164SerfsTer21
NM_001282548.2:c.428_431dup	NP_001269477.1:p.Gln145SerfsTer21
NM_001282549.2:c.365-14624_365-14621dup	NP_001269478.1:n.365-14624_365-14621dup
NR_104212.2:n.1803_1806dup
NR_104215.2:n.1746_1749dup
NR_104216.2:n.1002_1005dup