Canonical Allele Identifier: CA2582342113

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583544
• ClinVar RCV Id: RCV003337215

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781435_214781436del , CM000664.2:g.214781435_214781436del	GRCh38
NC_000002.11:g.215646159_215646160del , CM000664.1:g.215646159_215646160del	GRCh37
NC_000002.10:g.215354404_215354405del	NCBI36
NG_012047.2:g.33269_33270del
NG_012047.3:g.33276_33277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.438_439del MANE Select	ENSP00000260947.4:p.Trp146CysfsTer2
ENST00000421162.2:c.215+15625_215+15626del	ENSP00000392245.2:n.215+15625_215+15626del
ENST00000613192.2:c.158+27976_158+27977del	ENSP00000483275.2:n.158+27976_158+27977del
ENST00000613374.5:c.158+27976_158+27977del	ENSP00000484464.1:n.158+27976_158+27977del
ENST00000613706.5:c.438_439del	ENSP00000484976.2:p.Trp146CysfsTer2
ENST00000617164.5:c.381_382del	ENSP00000480470.1:p.Trp127CysfsTer2
ENST00000619009.5:c.364+10861_364+10862del	ENSP00000482293.1:n.364+10861_364+10862del
ENST00000650978.1:c.280_281del
ENST00000260947.8:c.438_439del	ENSP00000260947.4:p.Trp146CysfsTer2
ENST00000421162.1:c.215+15625_215+15626del	ENSP00000392245.1:n.215+15625_215+15626del
ENST00000455743.5:c.*58_*59del	ENSP00000412186.1:n.*58_*59del
ENST00000471787.1:n.333_334del
ENST00000613192.1:c.73+27976_73+27977del	ENSP00000483275.1:n.73+27976_73+27977del
ENST00000613374.4:c.158+27976_158+27977del	ENSP00000484464.1:n.158+27976_158+27977del
ENST00000613706.4:c.215+15625_215+15626del	ENSP00000484976.1:n.215+15625_215+15626del
ENST00000617164.4:c.381_382del	ENSP00000480470.1:p.Trp127CysfsTer2
ENST00000619009.4:c.364+10861_364+10862del	ENSP00000482293.1:n.364+10861_364+10862del
ENST00000620057.4:c.364+10861_364+10862del	ENSP00000481988.1:n.364+10861_364+10862del
NM_000465.3:c.438_439del	NP_000456.2:p.Trp146CysfsTer2
NM_001282543.1:c.381_382del	NP_001269472.1:p.Trp127CysfsTer2
NM_001282545.1:c.215+15625_215+15626del	NP_001269474.1:n.215+15625_215+15626del
NM_001282548.1:c.158+27976_158+27977del	NP_001269477.1:n.158+27976_158+27977del
NM_001282549.1:c.364+10861_364+10862del	NP_001269478.1:n.364+10861_364+10862del
NR_104212.1:n.431_432del
NR_104215.1:n.374_375del
NR_104216.1:n.506+10861_506+10862del
XM_011511567.1:c.384_385del	XP_011509869.1:p.Trp128CysfsTer2
XM_011511568.1:c.438_439del	XP_011509870.1:p.Trp146CysfsTer2
XM_017004613.1:c.537_538del	XP_016860102.1:p.Trp179CysfsTer2
XM_017004614.1:c.537_538del	XP_016860103.1:p.Trp179CysfsTer2
XR_002959322.1:n.628_629del
NM_000465.4:c.438_439del MANE Select	NP_000456.2:p.Trp146CysfsTer2
NM_001282543.2:c.381_382del	NP_001269472.1:p.Trp127CysfsTer2
NM_001282545.2:c.215+15625_215+15626del	NP_001269474.1:n.215+15625_215+15626del
NM_001282548.2:c.158+27976_158+27977del	NP_001269477.1:n.158+27976_158+27977del
NM_001282549.2:c.364+10861_364+10862del	NP_001269478.1:n.364+10861_364+10862del
NR_104212.2:n.403_404del
NR_104215.2:n.346_347del
NR_104216.2:n.478+10861_478+10862del