Canonical Allele Identifier: CA2580065656
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1767189

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780917_214780924delinsC , CM000664.2:g.214780917_214780924delinsC GRCh38
NC_000002.11:g.215645641_215645648delinsC , CM000664.1:g.215645641_215645648delinsC GRCh37
NC_000002.10:g.215353886_215353893delinsC NCBI36
NG_012047.2:g.33781_33788delinsG
NG_012047.3:g.33788_33795delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.950_957delinsG MANE Select ENSP00000260947.4:p.Glu317GlyfsTer23
ENST00000421162.2:c.215+16137_215+16144delinsG ENSP00000392245.2:n.215+16137_215+16144de...
ENST00000613192.2:c.158+28488_158+28495delinsG ENSP00000483275.2:n.158+28488_158+28495de...
ENST00000613374.5:c.159-28369_159-28362delinsG ENSP00000484464.1:n.159-28369_159-28362de...
ENST00000613706.5:c.906+44_906+51delinsG ENSP00000484976.2:n.906+44_906+51delinsG
ENST00000617164.5:c.893_900delinsG ENSP00000480470.1:p.Glu298GlyfsTer23
ENST00000619009.5:c.364+11373_364+11380delinsG ENSP00000482293.1:n.364+11373_364+11380de...
ENST00000650978.1:c.792_799delinsG
ENST00000260947.8:c.950_957delinsG ENSP00000260947.4:p.Glu317GlyfsTer23
ENST00000421162.1:c.215+16137_215+16144delinsG ENSP00000392245.1:n.215+16137_215+16144de...
ENST00000455743.5:c.*570_*577delinsG ENSP00000412186.1:n.*570_*577delinsG
ENST00000471787.1:n.845_852delinsG
ENST00000613192.1:c.73+28488_73+28495delinsG ENSP00000483275.1:n.73+28488_73+28495deli...
ENST00000613374.4:c.159-28369_159-28362delinsG ENSP00000484464.1:n.159-28369_159-28362de...
ENST00000613706.4:c.215+16137_215+16144delinsG ENSP00000484976.1:n.215+16137_215+16144de...
ENST00000617164.4:c.893_900delinsG ENSP00000480470.1:p.Glu298GlyfsTer23
ENST00000619009.4:c.364+11373_364+11380delinsG ENSP00000482293.1:n.364+11373_364+11380de...
ENST00000620057.4:c.364+11373_364+11380delinsG ENSP00000481988.1:n.364+11373_364+11380de...
NM_000465.3:c.950_957delinsG NP_000456.2:p.Glu317GlyfsTer23
NM_001282543.1:c.893_900delinsG NP_001269472.1:p.Glu298GlyfsTer23
NM_001282545.1:c.215+16137_215+16144delinsG NP_001269474.1:n.215+16137_215+16144delin...
NM_001282548.1:c.159-28369_159-28362delinsG NP_001269477.1:n.159-28369_159-28362delin...
NM_001282549.1:c.364+11373_364+11380delinsG NP_001269478.1:n.364+11373_364+11380delin...
NR_104212.1:n.943_950delinsG
NR_104215.1:n.886_893delinsG
NR_104216.1:n.506+11373_506+11380delinsG
XM_011511567.1:c.896_903delinsG XP_011509869.1:p.Glu299GlyfsTer23
XM_011511568.1:c.950_957delinsG XP_011509870.1:p.Glu317GlyfsTer23
XM_017004613.1:c.1049_1056delinsG XP_016860102.1:p.Glu350GlyfsTer23
XM_017004614.1:c.1049_1056delinsG XP_016860103.1:p.Glu350GlyfsTer23
XR_002959322.1:n.1140_1147delinsG
NM_000465.4:c.950_957delinsG MANE Select NP_000456.2:p.Glu317GlyfsTer23
NM_001282543.2:c.893_900delinsG NP_001269472.1:p.Glu298GlyfsTer23
NM_001282545.2:c.215+16137_215+16144delinsG NP_001269474.1:n.215+16137_215+16144delin...
NM_001282548.2:c.159-28369_159-28362delinsG NP_001269477.1:n.159-28369_159-28362delin...
NM_001282549.2:c.364+11373_364+11380delinsG NP_001269478.1:n.364+11373_364+11380delin...
NR_104212.2:n.915_922delinsG
NR_104215.2:n.858_865delinsG
NR_104216.2:n.478+11373_478+11380delinsG