Canonical Allele Identifier: CA915941696

Gene: BARD1

Linked Data

• ClinVar Variation Id: 656011
• ClinVar RCV Id: RCV000812313
• dbSNP Id: rs1574821575

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781458_214781464del , CM000664.2:g.214781458_214781464del	GRCh38
NC_000002.11:g.215646182_215646188del , CM000664.1:g.215646182_215646188del	GRCh37
NC_000002.10:g.215354427_215354433del	NCBI36
NG_012047.2:g.33244_33250del
NG_012047.3:g.33251_33257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.413_419del MANE Select	ENSP00000260947.4:p.Asn138ArgfsTer19
ENST00000421162.2:c.215+15600_215+15606del	ENSP00000392245.2:n.215+15600_215+15606del
ENST00000613192.2:c.158+27951_158+27957del	ENSP00000483275.2:n.158+27951_158+27957del
ENST00000613374.5:c.158+27951_158+27957del	ENSP00000484464.1:n.158+27951_158+27957del
ENST00000613706.5:c.413_419del	ENSP00000484976.2:p.Asn138ArgfsTer19
ENST00000617164.5:c.356_362del	ENSP00000480470.1:p.Asn119ArgfsTer19
ENST00000619009.5:c.364+10836_364+10842del	ENSP00000482293.1:n.364+10836_364+10842del
ENST00000650978.1:c.255_261del
ENST00000260947.8:c.413_419del	ENSP00000260947.4:p.Asn138ArgfsTer19
ENST00000421162.1:c.215+15600_215+15606del	ENSP00000392245.1:n.215+15600_215+15606del
ENST00000455743.5:c.*33_*39del	ENSP00000412186.1:n.*33_*39del
ENST00000471787.1:n.308_314del
ENST00000613192.1:c.73+27951_73+27957del	ENSP00000483275.1:n.73+27951_73+27957del
ENST00000613374.4:c.158+27951_158+27957del	ENSP00000484464.1:n.158+27951_158+27957del
ENST00000613706.4:c.215+15600_215+15606del	ENSP00000484976.1:n.215+15600_215+15606del
ENST00000617164.4:c.356_362del	ENSP00000480470.1:p.Asn119ArgfsTer19
ENST00000619009.4:c.364+10836_364+10842del	ENSP00000482293.1:n.364+10836_364+10842del
ENST00000620057.4:c.364+10836_364+10842del	ENSP00000481988.1:n.364+10836_364+10842del
NM_000465.3:c.413_419del	NP_000456.2:p.Asn138ArgfsTer19
NM_001282543.1:c.356_362del	NP_001269472.1:p.Asn119ArgfsTer19
NM_001282545.1:c.215+15600_215+15606del	NP_001269474.1:n.215+15600_215+15606del
NM_001282548.1:c.158+27951_158+27957del	NP_001269477.1:n.158+27951_158+27957del
NM_001282549.1:c.364+10836_364+10842del	NP_001269478.1:n.364+10836_364+10842del
NR_104212.1:n.406_412del
NR_104215.1:n.349_355del
NR_104216.1:n.506+10836_506+10842del
XM_011511567.1:c.359_365del	XP_011509869.1:p.Asn120ArgfsTer19
XM_011511568.1:c.413_419del	XP_011509870.1:p.Asn138ArgfsTer19
XM_017004613.1:c.512_518del	XP_016860102.1:p.Asn171ArgfsTer19
XM_017004614.1:c.512_518del	XP_016860103.1:p.Asn171ArgfsTer19
XR_002959322.1:n.603_609del
NM_000465.4:c.413_419del MANE Select	NP_000456.2:p.Asn138ArgfsTer19
NM_001282543.2:c.356_362del	NP_001269472.1:p.Asn119ArgfsTer19
NM_001282545.2:c.215+15600_215+15606del	NP_001269474.1:n.215+15600_215+15606del
NM_001282548.2:c.158+27951_158+27957del	NP_001269477.1:n.158+27951_158+27957del
NM_001282549.2:c.364+10836_364+10842del	NP_001269478.1:n.364+10836_364+10842del
NR_104212.2:n.378_384del
NR_104215.2:n.321_327del
NR_104216.2:n.478+10836_478+10842del