Canonical Allele Identifier: CA1327071215
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781001_214781002delinsAG , CM000664.2:g.214781001_214781002delinsAG GRCh38
NC_000002.11:g.215645725_215645726delinsAG , CM000664.1:g.215645725_215645726delinsAG GRCh37
NC_000002.10:g.215353970_215353971delinsAG NCBI36
NG_012047.2:g.33703_33704delinsCT
NG_012047.3:g.33710_33711delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.872_873delinsCT MANE Select ENSP00000260947.4:p.Thr291=
ENST00000421162.2:c.215+16059_215+16060delinsCT ENSP00000392245.2:n.215+16059_215+16060delinsCT
ENST00000613192.2:c.158+28410_158+28411delinsCT ENSP00000483275.2:n.158+28410_158+28411delinsCT
ENST00000613374.5:c.158+28410_158+28411delinsCT ENSP00000484464.1:n.158+28410_158+28411delinsCT
ENST00000613706.5:c.872_873delinsCT ENSP00000484976.2:p.Thr291=
ENST00000617164.5:c.815_816delinsCT ENSP00000480470.1:p.Thr272=
ENST00000619009.5:c.364+11295_364+11296delinsCT ENSP00000482293.1:n.364+11295_364+11296delinsCT
ENST00000650978.1:c.714_715delinsCT
ENST00000260947.8:c.872_873delinsCT ENSP00000260947.4:p.Thr291=
ENST00000421162.1:c.215+16059_215+16060delinsCT ENSP00000392245.1:n.215+16059_215+16060delinsCT
ENST00000455743.5:c.*492_*493delinsCT ENSP00000412186.1:n.*492_*493delinsCT
ENST00000471787.1:n.767_768delinsCT
ENST00000613192.1:c.73+28410_73+28411delinsCT ENSP00000483275.1:n.73+28410_73+28411delinsCT
ENST00000613374.4:c.158+28410_158+28411delinsCT ENSP00000484464.1:n.158+28410_158+28411delinsCT
ENST00000613706.4:c.215+16059_215+16060delinsCT ENSP00000484976.1:n.215+16059_215+16060delinsCT
ENST00000617164.4:c.815_816delinsCT ENSP00000480470.1:p.Thr272=
ENST00000619009.4:c.364+11295_364+11296delinsCT ENSP00000482293.1:n.364+11295_364+11296delinsCT
ENST00000620057.4:c.364+11295_364+11296delinsCT ENSP00000481988.1:n.364+11295_364+11296delinsCT
NM_000465.3:c.872_873delinsCT NP_000456.2:p.Thr291=
NM_001282543.1:c.815_816delinsCT NP_001269472.1:p.Thr272=
NM_001282545.1:c.215+16059_215+16060delinsCT NP_001269474.1:n.215+16059_215+16060delinsCT
NM_001282548.1:c.158+28410_158+28411delinsCT NP_001269477.1:n.158+28410_158+28411delinsCT
NM_001282549.1:c.364+11295_364+11296delinsCT NP_001269478.1:n.364+11295_364+11296delinsCT
NR_104212.1:n.865_866delinsCT
NR_104215.1:n.808_809delinsCT
NR_104216.1:n.506+11295_506+11296delinsCT
XM_011511567.1:c.818_819delinsCT XP_011509869.1:p.Thr273=
XM_011511568.1:c.872_873delinsCT XP_011509870.1:p.Thr291=
XM_017004613.1:c.971_972delinsCT XP_016860102.1:p.Thr324=
XM_017004614.1:c.971_972delinsCT XP_016860103.1:p.Thr324=
XR_002959322.1:n.1062_1063delinsCT
NM_000465.4:c.872_873delinsCT MANE Select NP_000456.2:p.Thr291=
NM_001282543.2:c.815_816delinsCT NP_001269472.1:p.Thr272=
NM_001282545.2:c.215+16059_215+16060delinsCT NP_001269474.1:n.215+16059_215+16060delinsCT
NM_001282548.2:c.158+28410_158+28411delinsCT NP_001269477.1:n.158+28410_158+28411delinsCT
NM_001282549.2:c.364+11295_364+11296delinsCT NP_001269478.1:n.364+11295_364+11296delinsCT
NR_104212.2:n.837_838delinsCT
NR_104215.2:n.780_781delinsCT
NR_104216.2:n.478+11295_478+11296delinsCT