Canonical Allele Identifier: CA2580065709

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1738653
• ClinVar RCV Id: RCV002327864 ; RCV003094582

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781453_214781454delinsAA , CM000664.2:g.214781453_214781454delinsAA	GRCh38
NC_000002.11:g.215646177_215646178delinsAA , CM000664.1:g.215646177_215646178delinsAA	GRCh37
NC_000002.10:g.215354422_215354423delinsAA	NCBI36
NG_012047.2:g.33251_33252delinsTT
NG_012047.3:g.33258_33259delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.420_421delinsTT MANE Select	ENSP00000260947.4:p.Lys140_Asn141delinsAsnTyr
ENST00000421162.2:c.215+15607_215+15608delinsTT	ENSP00000392245.2:n.215+15607_215+15608delinsTT
ENST00000613192.2:c.158+27958_158+27959delinsTT	ENSP00000483275.2:n.158+27958_158+27959delinsTT
ENST00000613374.5:c.158+27958_158+27959delinsTT	ENSP00000484464.1:n.158+27958_158+27959delinsTT
ENST00000613706.5:c.420_421delinsTT	ENSP00000484976.2:p.Lys140_Asn141delinsAsnTyr
ENST00000617164.5:c.363_364delinsTT	ENSP00000480470.1:p.Lys121_Asn122delinsAsnTyr
ENST00000619009.5:c.364+10843_364+10844delinsTT	ENSP00000482293.1:n.364+10843_364+10844delinsTT
ENST00000650978.1:c.262_263delinsTT
ENST00000260947.8:c.420_421delinsTT	ENSP00000260947.4:p.Lys140_Asn141delinsAsnTyr
ENST00000421162.1:c.215+15607_215+15608delinsTT	ENSP00000392245.1:n.215+15607_215+15608delinsTT
ENST00000455743.5:c.*40_*41delinsTT	ENSP00000412186.1:n.*40_*41delinsTT
ENST00000471787.1:n.315_316delinsTT
ENST00000613192.1:c.73+27958_73+27959delinsTT	ENSP00000483275.1:n.73+27958_73+27959delinsTT
ENST00000613374.4:c.158+27958_158+27959delinsTT	ENSP00000484464.1:n.158+27958_158+27959delinsTT
ENST00000613706.4:c.215+15607_215+15608delinsTT	ENSP00000484976.1:n.215+15607_215+15608delinsTT
ENST00000617164.4:c.363_364delinsTT	ENSP00000480470.1:p.Lys121_Asn122delinsAsnTyr
ENST00000619009.4:c.364+10843_364+10844delinsTT	ENSP00000482293.1:n.364+10843_364+10844delinsTT
ENST00000620057.4:c.364+10843_364+10844delinsTT	ENSP00000481988.1:n.364+10843_364+10844delinsTT
NM_000465.3:c.420_421delinsTT	NP_000456.2:p.Lys140_Asn141delinsAsnTyr
NM_001282543.1:c.363_364delinsTT	NP_001269472.1:p.Lys121_Asn122delinsAsnTyr
NM_001282545.1:c.215+15607_215+15608delinsTT	NP_001269474.1:n.215+15607_215+15608delinsTT
NM_001282548.1:c.158+27958_158+27959delinsTT	NP_001269477.1:n.158+27958_158+27959delinsTT
NM_001282549.1:c.364+10843_364+10844delinsTT	NP_001269478.1:n.364+10843_364+10844delinsTT
NR_104212.1:n.413_414delinsTT
NR_104215.1:n.356_357delinsTT
NR_104216.1:n.506+10843_506+10844delinsTT
XM_011511567.1:c.366_367delinsTT	XP_011509869.1:p.Lys122_Asn123delinsAsnTyr
XM_011511568.1:c.420_421delinsTT	XP_011509870.1:p.Lys140_Asn141delinsAsnTyr
XM_017004613.1:c.519_520delinsTT	XP_016860102.1:p.Lys173_Asn174delinsAsnTyr
XM_017004614.1:c.519_520delinsTT	XP_016860103.1:p.Lys173_Asn174delinsAsnTyr
XR_002959322.1:n.610_611delinsTT
NM_000465.4:c.420_421delinsTT MANE Select	NP_000456.2:p.Lys140_Asn141delinsAsnTyr
NM_001282543.2:c.363_364delinsTT	NP_001269472.1:p.Lys121_Asn122delinsAsnTyr
NM_001282545.2:c.215+15607_215+15608delinsTT	NP_001269474.1:n.215+15607_215+15608delinsTT
NM_001282548.2:c.158+27958_158+27959delinsTT	NP_001269477.1:n.158+27958_158+27959delinsTT
NM_001282549.2:c.364+10843_364+10844delinsTT	NP_001269478.1:n.364+10843_364+10844delinsTT
NR_104212.2:n.385_386delinsTT
NR_104215.2:n.328_329delinsTT
NR_104216.2:n.478+10843_478+10844delinsTT