Canonical Allele Identifier: CA2586971187

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728836_214728843del , CM000664.2:g.214728836_214728843del	GRCh38
NC_000002.11:g.215593560_215593567del , CM000664.1:g.215593560_215593567del	GRCh37
NC_000002.10:g.215301805_215301812del	NCBI36
NG_012047.2:g.85862_85869del
NG_012047.3:g.85869_85876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2167_2174del MANE Select	ENSP00000260947.4:p.His723ThrfsTer4
ENST00000421162.2:c.814_821del	ENSP00000392245.2:p.His272ThrfsTer4
ENST00000613192.2:c.*230_*237del	ENSP00000483275.2:n.*230_*237del
ENST00000613374.5:c.757_764del	ENSP00000484464.1:p.His253ThrfsTer4
ENST00000613706.5:c.1759_1766del	ENSP00000484976.2:p.His587ThrfsTer4
ENST00000617164.5:c.2110_2117del	ENSP00000480470.1:p.His704ThrfsTer4
ENST00000619009.5:c.628_635del	ENSP00000482293.1:p.His210ThrfsTer4
ENST00000650978.1:c.3542_3549del
ENST00000260947.8:c.2167_2174del	ENSP00000260947.4:p.His723ThrfsTer4
ENST00000432456.5:c.310_317del
ENST00000455743.5:c.*1787_*1794del	ENSP00000412186.1:n.*1787_*1794del
ENST00000471590.5:n.502_509del
ENST00000613192.1:c.337_344del	ENSP00000483275.1:p.His113ThrfsTer4
ENST00000613374.4:c.757_764del	ENSP00000484464.1:p.His253ThrfsTer4
ENST00000613706.4:c.814_821del	ENSP00000484976.1:p.His272ThrfsTer4
ENST00000617164.4:c.2110_2117del	ENSP00000480470.1:p.His704ThrfsTer4
ENST00000619009.4:c.628_635del	ENSP00000482293.1:p.His210ThrfsTer4
ENST00000620057.4:c.*833_*840del	ENSP00000481988.1:n.*833_*840del
NM_000465.3:c.2167_2174del	NP_000456.2:p.His723ThrfsTer4
NM_001282543.1:c.2110_2117del	NP_001269472.1:p.His704ThrfsTer4
NM_001282545.1:c.814_821del	NP_001269474.1:p.His272ThrfsTer4
NM_001282548.1:c.757_764del	NP_001269477.1:p.His253ThrfsTer4
NM_001282549.1:c.628_635del	NP_001269478.1:p.His210ThrfsTer4
NR_104212.1:n.2160_2167del
NR_104215.1:n.2103_2110del
NR_104216.1:n.1359_1366del
XM_011511567.1:c.2113_2120del	XP_011509869.1:p.His705ThrfsTer4
XM_017004613.1:c.2266_2273del	XP_016860102.1:p.His756ThrfsTer4
XR_002959322.1:n.2533_2540del
NM_000465.4:c.2167_2174del MANE Select	NP_000456.2:p.His723ThrfsTer4
NM_001282543.2:c.2110_2117del	NP_001269472.1:p.His704ThrfsTer4
NM_001282545.2:c.814_821del	NP_001269474.1:p.His272ThrfsTer4
NM_001282548.2:c.757_764del	NP_001269477.1:p.His253ThrfsTer4
NM_001282549.2:c.628_635del	NP_001269478.1:p.His210ThrfsTer4
NR_104212.2:n.2132_2139del
NR_104215.2:n.2075_2082del
NR_104216.2:n.1331_1338del