Canonical Allele Identifier: CA2580065712

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1737198
• ClinVar RCV Id: RCV002375752 ; RCV003094490

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781470_214781471delinsAA , CM000664.2:g.214781470_214781471delinsAA	GRCh38
NC_000002.11:g.215646194_215646195delinsAA , CM000664.1:g.215646194_215646195delinsAA	GRCh37
NC_000002.10:g.215354439_215354440delinsAA	NCBI36
NG_012047.2:g.33234_33235delinsTT
NG_012047.3:g.33241_33242delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.403_404delinsTT MANE Select	ENSP00000260947.4:p.Asp135Phe
ENST00000421162.2:c.215+15590_215+15591delinsTT	ENSP00000392245.2:n.215+15590_215+15591delinsTT
ENST00000613192.2:c.158+27941_158+27942delinsTT	ENSP00000483275.2:n.158+27941_158+27942delinsTT
ENST00000613374.5:c.158+27941_158+27942delinsTT	ENSP00000484464.1:n.158+27941_158+27942delinsTT
ENST00000613706.5:c.403_404delinsTT	ENSP00000484976.2:p.Asp135Phe
ENST00000617164.5:c.346_347delinsTT	ENSP00000480470.1:p.Asp116Phe
ENST00000619009.5:c.364+10826_364+10827delinsTT	ENSP00000482293.1:n.364+10826_364+10827delinsTT
ENST00000650978.1:c.245_246delinsTT
ENST00000260947.8:c.403_404delinsTT	ENSP00000260947.4:p.Asp135Phe
ENST00000421162.1:c.215+15590_215+15591delinsTT	ENSP00000392245.1:n.215+15590_215+15591delinsTT
ENST00000455743.5:c.*23_*24delinsTT	ENSP00000412186.1:n.*23_*24delinsTT
ENST00000471787.1:n.298_299delinsTT
ENST00000613192.1:c.73+27941_73+27942delinsTT	ENSP00000483275.1:n.73+27941_73+27942delinsTT
ENST00000613374.4:c.158+27941_158+27942delinsTT	ENSP00000484464.1:n.158+27941_158+27942delinsTT
ENST00000613706.4:c.215+15590_215+15591delinsTT	ENSP00000484976.1:n.215+15590_215+15591delinsTT
ENST00000617164.4:c.346_347delinsTT	ENSP00000480470.1:p.Asp116Phe
ENST00000619009.4:c.364+10826_364+10827delinsTT	ENSP00000482293.1:n.364+10826_364+10827delinsTT
ENST00000620057.4:c.364+10826_364+10827delinsTT	ENSP00000481988.1:n.364+10826_364+10827delinsTT
NM_000465.3:c.403_404delinsTT	NP_000456.2:p.Asp135Phe
NM_001282543.1:c.346_347delinsTT	NP_001269472.1:p.Asp116Phe
NM_001282545.1:c.215+15590_215+15591delinsTT	NP_001269474.1:n.215+15590_215+15591delinsTT
NM_001282548.1:c.158+27941_158+27942delinsTT	NP_001269477.1:n.158+27941_158+27942delinsTT
NM_001282549.1:c.364+10826_364+10827delinsTT	NP_001269478.1:n.364+10826_364+10827delinsTT
NR_104212.1:n.396_397delinsTT
NR_104215.1:n.339_340delinsTT
NR_104216.1:n.506+10826_506+10827delinsTT
XM_011511567.1:c.349_350delinsTT	XP_011509869.1:p.Asp117Phe
XM_011511568.1:c.403_404delinsTT	XP_011509870.1:p.Asp135Phe
XM_017004613.1:c.502_503delinsTT	XP_016860102.1:p.Asp168Phe
XM_017004614.1:c.502_503delinsTT	XP_016860103.1:p.Asp168Phe
XR_002959322.1:n.593_594delinsTT
NM_000465.4:c.403_404delinsTT MANE Select	NP_000456.2:p.Asp135Phe
NM_001282543.2:c.346_347delinsTT	NP_001269472.1:p.Asp116Phe
NM_001282545.2:c.215+15590_215+15591delinsTT	NP_001269474.1:n.215+15590_215+15591delinsTT
NM_001282548.2:c.158+27941_158+27942delinsTT	NP_001269477.1:n.158+27941_158+27942delinsTT
NM_001282549.2:c.364+10826_364+10827delinsTT	NP_001269478.1:n.364+10826_364+10827delinsTT
NR_104212.2:n.368_369delinsTT
NR_104215.2:n.311_312delinsTT
NR_104216.2:n.478+10826_478+10827delinsTT