Canonical Allele Identifier: CA2580065605

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2203255
• ClinVar RCV Id: RCV002651599 ; RCV003294603
• gnomAD v4: 2-214728715-GTCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728717_214728720del , CM000664.2:g.214728717_214728720del	GRCh38
NC_000002.11:g.215593441_215593444del , CM000664.1:g.215593441_215593444del	GRCh37
NC_000002.10:g.215301686_215301689del	NCBI36
NG_012047.2:g.85986_85989del
NG_012047.3:g.85993_85996del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2291_2294del MANE Select	ENSP00000260947.4:p.Ile764ThrfsTer3
ENST00000421162.2:c.938_941del	ENSP00000392245.2:p.Ile313ThrfsTer3
ENST00000613192.2:c.*354_*357del	ENSP00000483275.2:n.*354_*357del
ENST00000613374.5:c.881_884del	ENSP00000484464.1:p.Ile294ThrfsTer3
ENST00000613706.5:c.1883_1886del	ENSP00000484976.2:p.Ile628ThrfsTer3
ENST00000617164.5:c.2234_2237del	ENSP00000480470.1:p.Ile745ThrfsTer3
ENST00000619009.5:c.752_755del	ENSP00000482293.1:p.Ile251ThrfsTer3
ENST00000650978.1:c.3666_3669del
ENST00000260947.8:c.2291_2294del	ENSP00000260947.4:p.Ile764ThrfsTer3
ENST00000432456.5:c.434_437del
ENST00000455743.5:c.*1911_*1914del	ENSP00000412186.1:n.*1911_*1914del
ENST00000471590.5:n.626_629del
ENST00000613192.1:c.461_464del	ENSP00000483275.1:p.Ile154ThrfsTer3
ENST00000613374.4:c.881_884del	ENSP00000484464.1:p.Ile294ThrfsTer3
ENST00000613706.4:c.938_941del	ENSP00000484976.1:p.Ile313ThrfsTer3
ENST00000617164.4:c.2234_2237del	ENSP00000480470.1:p.Ile745ThrfsTer3
ENST00000619009.4:c.752_755del	ENSP00000482293.1:p.Ile251ThrfsTer3
ENST00000620057.4:c.*957_*960del	ENSP00000481988.1:n.*957_*960del
NM_000465.3:c.2291_2294del	NP_000456.2:p.Ile764ThrfsTer3
NM_001282543.1:c.2234_2237del	NP_001269472.1:p.Ile745ThrfsTer3
NM_001282545.1:c.938_941del	NP_001269474.1:p.Ile313ThrfsTer3
NM_001282548.1:c.881_884del	NP_001269477.1:p.Ile294ThrfsTer3
NM_001282549.1:c.752_755del	NP_001269478.1:p.Ile251ThrfsTer3
NR_104212.1:n.2284_2287del
NR_104215.1:n.2227_2230del
NR_104216.1:n.1483_1486del
XM_011511567.1:c.2237_2240del	XP_011509869.1:p.Ile746ThrfsTer3
XM_017004613.1:c.2390_2393del	XP_016860102.1:p.Ile797ThrfsTer3
XR_002959322.1:n.2657_2660del
NM_000465.4:c.2291_2294del MANE Select	NP_000456.2:p.Ile764ThrfsTer3
NM_001282543.2:c.2234_2237del	NP_001269472.1:p.Ile745ThrfsTer3
NM_001282545.2:c.938_941del	NP_001269474.1:p.Ile313ThrfsTer3
NM_001282548.2:c.881_884del	NP_001269477.1:p.Ile294ThrfsTer3
NM_001282549.2:c.752_755del	NP_001269478.1:p.Ile251ThrfsTer3
NR_104212.2:n.2256_2259del
NR_104215.2:n.2199_2202del
NR_104216.2:n.1455_1458del