Canonical Allele Identifier: CA2580065708

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1801624
• ClinVar RCV Id: RCV003164660

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781450_214781460del , CM000664.2:g.214781450_214781460del	GRCh38
NC_000002.11:g.215646174_215646184del , CM000664.1:g.215646174_215646184del	GRCh37
NC_000002.10:g.215354419_215354429del	NCBI36
NG_012047.2:g.33248_33258del
NG_012047.3:g.33255_33265del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.417_427del MANE Select	ENSP00000260947.4:p.Lys139AsnfsTer2
ENST00000421162.2:c.215+15604_215+15614del	ENSP00000392245.2:n.215+15604_215+15614del
ENST00000613192.2:c.158+27955_158+27965del	ENSP00000483275.2:n.158+27955_158+27965del
ENST00000613374.5:c.158+27955_158+27965del	ENSP00000484464.1:n.158+27955_158+27965del
ENST00000613706.5:c.417_427del	ENSP00000484976.2:p.Lys139AsnfsTer2
ENST00000617164.5:c.360_370del	ENSP00000480470.1:p.Lys120AsnfsTer2
ENST00000619009.5:c.364+10840_364+10850del	ENSP00000482293.1:n.364+10840_364+10850del
ENST00000650978.1:c.259_269del
ENST00000260947.8:c.417_427del	ENSP00000260947.4:p.Lys139AsnfsTer2
ENST00000421162.1:c.215+15604_215+15614del	ENSP00000392245.1:n.215+15604_215+15614del
ENST00000455743.5:c.*37_*47del	ENSP00000412186.1:n.*37_*47del
ENST00000471787.1:n.312_322del
ENST00000613192.1:c.73+27955_73+27965del	ENSP00000483275.1:n.73+27955_73+27965del
ENST00000613374.4:c.158+27955_158+27965del	ENSP00000484464.1:n.158+27955_158+27965del
ENST00000613706.4:c.215+15604_215+15614del	ENSP00000484976.1:n.215+15604_215+15614del
ENST00000617164.4:c.360_370del	ENSP00000480470.1:p.Lys120AsnfsTer2
ENST00000619009.4:c.364+10840_364+10850del	ENSP00000482293.1:n.364+10840_364+10850del
ENST00000620057.4:c.364+10840_364+10850del	ENSP00000481988.1:n.364+10840_364+10850del
NM_000465.3:c.417_427del	NP_000456.2:p.Lys139AsnfsTer2
NM_001282543.1:c.360_370del	NP_001269472.1:p.Lys120AsnfsTer2
NM_001282545.1:c.215+15604_215+15614del	NP_001269474.1:n.215+15604_215+15614del
NM_001282548.1:c.158+27955_158+27965del	NP_001269477.1:n.158+27955_158+27965del
NM_001282549.1:c.364+10840_364+10850del	NP_001269478.1:n.364+10840_364+10850del
NR_104212.1:n.410_420del
NR_104215.1:n.353_363del
NR_104216.1:n.506+10840_506+10850del
XM_011511567.1:c.363_373del	XP_011509869.1:p.Lys121AsnfsTer2
XM_011511568.1:c.417_427del	XP_011509870.1:p.Lys139AsnfsTer2
XM_017004613.1:c.516_526del	XP_016860102.1:p.Lys172AsnfsTer2
XM_017004614.1:c.516_526del	XP_016860103.1:p.Lys172AsnfsTer2
XR_002959322.1:n.607_617del
NM_000465.4:c.417_427del MANE Select	NP_000456.2:p.Lys139AsnfsTer2
NM_001282543.2:c.360_370del	NP_001269472.1:p.Lys120AsnfsTer2
NM_001282545.2:c.215+15604_215+15614del	NP_001269474.1:n.215+15604_215+15614del
NM_001282548.2:c.158+27955_158+27965del	NP_001269477.1:n.158+27955_158+27965del
NM_001282549.2:c.364+10840_364+10850del	NP_001269478.1:n.364+10840_364+10850del
NR_104212.2:n.382_392del
NR_104215.2:n.325_335del
NR_104216.2:n.478+10840_478+10850del