Canonical Allele Identifier: CA1327071297
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781127_214781128delinsGA , CM000664.2:g.214781127_214781128delinsGA GRCh38
NC_000002.11:g.215645851_215645852delinsGA , CM000664.1:g.215645851_215645852delinsGA GRCh37
NC_000002.10:g.215354096_215354097delinsGA NCBI36
NG_012047.2:g.33577_33578delinsTC
NG_012047.3:g.33584_33585delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.746_747delinsTC MANE Select ENSP00000260947.4:p.Ile249=
ENST00000421162.2:c.215+15933_215+15934delinsTC ENSP00000392245.2:n.215+15933_215+15934delinsTC
ENST00000613192.2:c.158+28284_158+28285delinsTC ENSP00000483275.2:n.158+28284_158+28285delinsTC
ENST00000613374.5:c.158+28284_158+28285delinsTC ENSP00000484464.1:n.158+28284_158+28285delinsTC
ENST00000613706.5:c.746_747delinsTC ENSP00000484976.2:p.Ile249=
ENST00000617164.5:c.689_690delinsTC ENSP00000480470.1:p.Ile230=
ENST00000619009.5:c.364+11169_364+11170delinsTC ENSP00000482293.1:n.364+11169_364+11170delinsTC
ENST00000650978.1:c.588_589delinsTC
ENST00000260947.8:c.746_747delinsTC ENSP00000260947.4:p.Ile249=
ENST00000421162.1:c.215+15933_215+15934delinsTC ENSP00000392245.1:n.215+15933_215+15934delinsTC
ENST00000455743.5:c.*366_*367delinsTC ENSP00000412186.1:n.*366_*367delinsTC
ENST00000471787.1:n.641_642delinsTC
ENST00000613192.1:c.73+28284_73+28285delinsTC ENSP00000483275.1:n.73+28284_73+28285delinsTC
ENST00000613374.4:c.158+28284_158+28285delinsTC ENSP00000484464.1:n.158+28284_158+28285delinsTC
ENST00000613706.4:c.215+15933_215+15934delinsTC ENSP00000484976.1:n.215+15933_215+15934delinsTC
ENST00000617164.4:c.689_690delinsTC ENSP00000480470.1:p.Ile230=
ENST00000619009.4:c.364+11169_364+11170delinsTC ENSP00000482293.1:n.364+11169_364+11170delinsTC
ENST00000620057.4:c.364+11169_364+11170delinsTC ENSP00000481988.1:n.364+11169_364+11170delinsTC
NM_000465.3:c.746_747delinsTC NP_000456.2:p.Ile249=
NM_001282543.1:c.689_690delinsTC NP_001269472.1:p.Ile230=
NM_001282545.1:c.215+15933_215+15934delinsTC NP_001269474.1:n.215+15933_215+15934delinsTC
NM_001282548.1:c.158+28284_158+28285delinsTC NP_001269477.1:n.158+28284_158+28285delinsTC
NM_001282549.1:c.364+11169_364+11170delinsTC NP_001269478.1:n.364+11169_364+11170delinsTC
NR_104212.1:n.739_740delinsTC
NR_104215.1:n.682_683delinsTC
NR_104216.1:n.506+11169_506+11170delinsTC
XM_011511567.1:c.692_693delinsTC XP_011509869.1:p.Ile231=
XM_011511568.1:c.746_747delinsTC XP_011509870.1:p.Ile249=
XM_017004613.1:c.845_846delinsTC XP_016860102.1:p.Ile282=
XM_017004614.1:c.845_846delinsTC XP_016860103.1:p.Ile282=
XR_002959322.1:n.936_937delinsTC
NM_000465.4:c.746_747delinsTC MANE Select NP_000456.2:p.Ile249=
NM_001282543.2:c.689_690delinsTC NP_001269472.1:p.Ile230=
NM_001282545.2:c.215+15933_215+15934delinsTC NP_001269474.1:n.215+15933_215+15934delinsTC
NM_001282548.2:c.158+28284_158+28285delinsTC NP_001269477.1:n.158+28284_158+28285delinsTC
NM_001282549.2:c.364+11169_364+11170delinsTC NP_001269478.1:n.364+11169_364+11170delinsTC
NR_104212.2:n.711_712delinsTC
NR_104215.2:n.654_655delinsTC
NR_104216.2:n.478+11169_478+11170delinsTC