Canonical Allele Identifier: CA2582342063

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583692
• ClinVar RCV Id: RCV003334614

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730503_214730504dup , CM000664.2:g.214730503_214730504dup	GRCh38
NC_000002.11:g.215595227_215595228dup , CM000664.1:g.215595227_215595228dup	GRCh37
NC_000002.10:g.215303472_215303473dup	NCBI36
NG_012047.2:g.84203_84204dup
NG_012047.3:g.84210_84211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1910_1911dup MANE Select	ENSP00000260947.4:p.Ala638LysfsTer?
ENST00000421162.2:c.557_558dup	ENSP00000392245.2:p.Ala187LysfsTer?
ENST00000613192.2:c.165_166dup	ENSP00000483275.2:p.Ser56LysfsTer?
ENST00000613374.5:c.500_501dup	ENSP00000484464.1:p.Ala168LysfsTer?
ENST00000613706.5:c.1502_1503dup	ENSP00000484976.2:p.Ala502LysfsTer?
ENST00000617164.5:c.1853_1854dup	ENSP00000480470.1:p.Ala619LysfsTer?
ENST00000619009.5:c.371_372dup	ENSP00000482293.1:p.Ala125LysfsTer?
ENST00000650978.1:c.3285_3286dup
ENST00000260947.8:c.1910_1911dup	ENSP00000260947.4:p.Ala638LysfsTer?
ENST00000421162.1:c.557_558dup	ENSP00000392245.1:p.Ala187LysfsTer?
ENST00000432456.5:c.7_8dup
ENST00000455743.5:c.*1530_*1531dup	ENSP00000412186.1:n.*1530_*1531dup
ENST00000471590.5:n.245_246dup
ENST00000613192.1:c.80_81dup	ENSP00000483275.1:p.Ala28LysfsTer?
ENST00000613374.4:c.500_501dup	ENSP00000484464.1:p.Ala168LysfsTer?
ENST00000613706.4:c.557_558dup	ENSP00000484976.1:p.Ala187LysfsTer?
ENST00000617164.4:c.1853_1854dup	ENSP00000480470.1:p.Ala619LysfsTer?
ENST00000619009.4:c.371_372dup	ENSP00000482293.1:p.Ala125LysfsTer?
ENST00000620057.4:c.*576_*577dup	ENSP00000481988.1:n.*576_*577dup
NM_000465.3:c.1910_1911dup	NP_000456.2:p.Ala638LysfsTer?
NM_001282543.1:c.1853_1854dup	NP_001269472.1:p.Ala619LysfsTer?
NM_001282545.1:c.557_558dup	NP_001269474.1:p.Ala187LysfsTer?
NM_001282548.1:c.500_501dup	NP_001269477.1:p.Ala168LysfsTer?
NM_001282549.1:c.371_372dup	NP_001269478.1:p.Ala125LysfsTer?
NR_104212.1:n.1903_1904dup
NR_104215.1:n.1846_1847dup
NR_104216.1:n.1102_1103dup
XM_011511567.1:c.1856_1857dup	XP_011509869.1:p.Ala620LysfsTer?
XM_017004613.1:c.2009_2010dup	XP_016860102.1:p.Ala671LysfsTer?
XR_002959322.1:n.2100_2101dup
NM_000465.4:c.1910_1911dup MANE Select	NP_000456.2:p.Ala638LysfsTer?
NM_001282543.2:c.1853_1854dup	NP_001269472.1:p.Ala619LysfsTer?
NM_001282545.2:c.557_558dup	NP_001269474.1:p.Ala187LysfsTer?
NM_001282548.2:c.500_501dup	NP_001269477.1:p.Ala168LysfsTer?
NM_001282549.2:c.371_372dup	NP_001269478.1:p.Ala125LysfsTer?
NR_104212.2:n.1875_1876dup
NR_104215.2:n.1818_1819dup
NR_104216.2:n.1074_1075dup