Canonical Allele Identifier: CA764546579

Gene: BARD1

Linked Data

• ClinVar Variation Id: 631075
• ClinVar RCV Id: RCV000777118 ; RCV001389579
• dbSNP Id: rs1420243208
• MyVariant Identifiers: chr2:g.215646182_215646183del (hg19) ; chr2:g.214781458_214781459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781458_214781459del , CM000664.2:g.214781458_214781459del	GRCh38
NC_000002.11:g.215646182_215646183del , CM000664.1:g.215646182_215646183del	GRCh37
NC_000002.10:g.215354427_215354428del	NCBI36
NG_012047.2:g.33246_33247del
NG_012047.3:g.33253_33254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.415_416del MANE Select	ENSP00000260947.4:p.Lys139GlufsTer5
ENST00000421162.2:c.215+15602_215+15603del	ENSP00000392245.2:n.215+15602_215+15603del
ENST00000613192.2:c.158+27953_158+27954del	ENSP00000483275.2:n.158+27953_158+27954del
ENST00000613374.5:c.158+27953_158+27954del	ENSP00000484464.1:n.158+27953_158+27954del
ENST00000613706.5:c.415_416del	ENSP00000484976.2:p.Lys139GlufsTer5
ENST00000617164.5:c.358_359del	ENSP00000480470.1:p.Lys120GlufsTer5
ENST00000619009.5:c.364+10838_364+10839del	ENSP00000482293.1:n.364+10838_364+10839del
ENST00000650978.1:c.257_258del
ENST00000260947.8:c.415_416del	ENSP00000260947.4:p.Lys139GlufsTer5
ENST00000421162.1:c.215+15602_215+15603del	ENSP00000392245.1:n.215+15602_215+15603del
ENST00000455743.5:c.*35_*36del	ENSP00000412186.1:n.*35_*36del
ENST00000471787.1:n.310_311del
ENST00000613192.1:c.73+27953_73+27954del	ENSP00000483275.1:n.73+27953_73+27954del
ENST00000613374.4:c.158+27953_158+27954del	ENSP00000484464.1:n.158+27953_158+27954del
ENST00000613706.4:c.215+15602_215+15603del	ENSP00000484976.1:n.215+15602_215+15603del
ENST00000617164.4:c.358_359del	ENSP00000480470.1:p.Lys120GlufsTer5
ENST00000619009.4:c.364+10838_364+10839del	ENSP00000482293.1:n.364+10838_364+10839del
ENST00000620057.4:c.364+10838_364+10839del	ENSP00000481988.1:n.364+10838_364+10839del
NM_000465.3:c.415_416del	NP_000456.2:p.Lys139GlufsTer5
NM_001282543.1:c.358_359del	NP_001269472.1:p.Lys120GlufsTer5
NM_001282545.1:c.215+15602_215+15603del	NP_001269474.1:n.215+15602_215+15603del
NM_001282548.1:c.158+27953_158+27954del	NP_001269477.1:n.158+27953_158+27954del
NM_001282549.1:c.364+10838_364+10839del	NP_001269478.1:n.364+10838_364+10839del
NR_104212.1:n.408_409del
NR_104215.1:n.351_352del
NR_104216.1:n.506+10838_506+10839del
XM_011511567.1:c.361_362del	XP_011509869.1:p.Lys121GlufsTer5
XM_011511568.1:c.415_416del	XP_011509870.1:p.Lys139GlufsTer5
XM_017004613.1:c.514_515del	XP_016860102.1:p.Lys172GlufsTer5
XM_017004614.1:c.514_515del	XP_016860103.1:p.Lys172GlufsTer5
XR_002959322.1:n.605_606del
NM_000465.4:c.415_416del MANE Select	NP_000456.2:p.Lys139GlufsTer5
NM_001282543.2:c.358_359del	NP_001269472.1:p.Lys120GlufsTer5
NM_001282545.2:c.215+15602_215+15603del	NP_001269474.1:n.215+15602_215+15603del
NM_001282548.2:c.158+27953_158+27954del	NP_001269477.1:n.158+27953_158+27954del
NM_001282549.2:c.364+10838_364+10839del	NP_001269478.1:n.364+10838_364+10839del
NR_104212.2:n.380_381del
NR_104215.2:n.323_324del
NR_104216.2:n.478+10838_478+10839del