Canonical Allele Identifier: CA2582342059

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583377
• ClinVar RCV Id: RCV003337048

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745115_214745116dup , CM000664.2:g.214745115_214745116dup	GRCh38
NC_000002.11:g.215609839_215609840dup , CM000664.1:g.215609839_215609840dup	GRCh37
NC_000002.10:g.215318084_215318085dup	NCBI36
NG_012047.2:g.69589_69590dup
NG_012047.3:g.69596_69597dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1854_1855dup MANE Select	ENSP00000260947.4:p.Lys619ArgfsTer14
ENST00000421162.2:c.501_502dup	ENSP00000392245.2:p.Lys168ArgfsTer14
ENST00000613192.2:c.159-14608_159-14607dup	ENSP00000483275.2:n.159-14608_159-14607dup
ENST00000613374.5:c.444_445dup	ENSP00000484464.1:p.Lys149ArgfsTer14
ENST00000613706.5:c.1446_1447dup	ENSP00000484976.2:p.Lys483ArgfsTer14
ENST00000617164.5:c.1797_1798dup	ENSP00000480470.1:p.Lys600ArgfsTer14
ENST00000619009.5:c.365-14608_365-14607dup	ENSP00000482293.1:n.365-14608_365-14607dup
ENST00000650978.1:c.3229_3230dup
ENST00000260947.8:c.1854_1855dup	ENSP00000260947.4:p.Lys619ArgfsTer14
ENST00000421162.1:c.501_502dup	ENSP00000392245.1:p.Lys168ArgfsTer14
ENST00000455743.5:c.*1474_*1475dup	ENSP00000412186.1:n.*1474_*1475dup
ENST00000613192.1:c.74-14608_74-14607dup	ENSP00000483275.1:n.74-14608_74-14607dup
ENST00000613374.4:c.444_445dup	ENSP00000484464.1:p.Lys149ArgfsTer14
ENST00000613706.4:c.501_502dup	ENSP00000484976.1:p.Lys168ArgfsTer14
ENST00000617164.4:c.1797_1798dup	ENSP00000480470.1:p.Lys600ArgfsTer14
ENST00000619009.4:c.365-14608_365-14607dup	ENSP00000482293.1:n.365-14608_365-14607dup
ENST00000620057.4:c.*520_*521dup	ENSP00000481988.1:n.*520_*521dup
NM_000465.3:c.1854_1855dup	NP_000456.2:p.Lys619ArgfsTer14
NM_001282543.1:c.1797_1798dup	NP_001269472.1:p.Lys600ArgfsTer14
NM_001282545.1:c.501_502dup	NP_001269474.1:p.Lys168ArgfsTer14
NM_001282548.1:c.444_445dup	NP_001269477.1:p.Lys149ArgfsTer14
NM_001282549.1:c.365-14608_365-14607dup	NP_001269478.1:n.365-14608_365-14607dup
NR_104212.1:n.1847_1848dup
NR_104215.1:n.1790_1791dup
NR_104216.1:n.1046_1047dup
XM_011511567.1:c.1800_1801dup	XP_011509869.1:p.Lys601ArgfsTer14
XM_011511568.1:c.1854_1855dup	XP_011509870.1:p.Lys619ArgfsTer14
XM_017004613.1:c.1953_1954dup	XP_016860102.1:p.Lys652ArgfsTer14
XM_017004614.1:c.1953_1954dup	XP_016860103.1:p.Lys652ArgfsTer14
XR_002959322.1:n.2044_2045dup
NM_000465.4:c.1854_1855dup MANE Select	NP_000456.2:p.Lys619ArgfsTer14
NM_001282543.2:c.1797_1798dup	NP_001269472.1:p.Lys600ArgfsTer14
NM_001282545.2:c.501_502dup	NP_001269474.1:p.Lys168ArgfsTer14
NM_001282548.2:c.444_445dup	NP_001269477.1:p.Lys149ArgfsTer14
NM_001282549.2:c.365-14608_365-14607dup	NP_001269478.1:n.365-14608_365-14607dup
NR_104212.2:n.1819_1820dup
NR_104215.2:n.1762_1763dup
NR_104216.2:n.1018_1019dup