Canonical Allele Identifier: CA1327071553
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781492_214781493delinsGT , CM000664.2:g.214781492_214781493delinsGT GRCh38
NC_000002.11:g.215646216_215646217delinsGT , CM000664.1:g.215646216_215646217delinsGT GRCh37
NC_000002.10:g.215354461_215354462delinsGT NCBI36
NG_012047.2:g.33212_33213delinsAC
NG_012047.3:g.33219_33220delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.381_382delinsAC MANE Select ENSP00000260947.4:p.Lys127=
ENST00000421162.2:c.215+15568_215+15569delinsAC ENSP00000392245.2:n.215+15568_215+15569delinsAC
ENST00000613192.2:c.158+27919_158+27920delinsAC ENSP00000483275.2:n.158+27919_158+27920delinsAC
ENST00000613374.5:c.158+27919_158+27920delinsAC ENSP00000484464.1:n.158+27919_158+27920delinsAC
ENST00000613706.5:c.381_382delinsAC ENSP00000484976.2:p.Lys127=
ENST00000617164.5:c.324_325delinsAC ENSP00000480470.1:p.Lys108=
ENST00000619009.5:c.364+10804_364+10805delinsAC ENSP00000482293.1:n.364+10804_364+10805delinsAC
ENST00000650978.1:c.223_224delinsAC
ENST00000260947.8:c.381_382delinsAC ENSP00000260947.4:p.Lys127=
ENST00000421162.1:c.215+15568_215+15569delinsAC ENSP00000392245.1:n.215+15568_215+15569delinsAC
ENST00000455743.5:c.*1_*2delinsAC ENSP00000412186.1:n.*1_*2delinsAC
ENST00000471787.1:n.276_277delinsAC
ENST00000613192.1:c.73+27919_73+27920delinsAC ENSP00000483275.1:n.73+27919_73+27920delinsAC
ENST00000613374.4:c.158+27919_158+27920delinsAC ENSP00000484464.1:n.158+27919_158+27920delinsAC
ENST00000613706.4:c.215+15568_215+15569delinsAC ENSP00000484976.1:n.215+15568_215+15569delinsAC
ENST00000617164.4:c.324_325delinsAC ENSP00000480470.1:p.Lys108=
ENST00000619009.4:c.364+10804_364+10805delinsAC ENSP00000482293.1:n.364+10804_364+10805delinsAC
ENST00000620057.4:c.364+10804_364+10805delinsAC ENSP00000481988.1:n.364+10804_364+10805delinsAC
NM_000465.3:c.381_382delinsAC NP_000456.2:p.Lys127=
NM_001282543.1:c.324_325delinsAC NP_001269472.1:p.Lys108=
NM_001282545.1:c.215+15568_215+15569delinsAC NP_001269474.1:n.215+15568_215+15569delinsAC
NM_001282548.1:c.158+27919_158+27920delinsAC NP_001269477.1:n.158+27919_158+27920delinsAC
NM_001282549.1:c.364+10804_364+10805delinsAC NP_001269478.1:n.364+10804_364+10805delinsAC
NR_104212.1:n.374_375delinsAC
NR_104215.1:n.317_318delinsAC
NR_104216.1:n.506+10804_506+10805delinsAC
XM_011511567.1:c.327_328delinsAC XP_011509869.1:p.Lys109=
XM_011511568.1:c.381_382delinsAC XP_011509870.1:p.Lys127=
XM_017004613.1:c.480_481delinsAC XP_016860102.1:p.Lys160=
XM_017004614.1:c.480_481delinsAC XP_016860103.1:p.Lys160=
XR_002959322.1:n.571_572delinsAC
NM_000465.4:c.381_382delinsAC MANE Select NP_000456.2:p.Lys127=
NM_001282543.2:c.324_325delinsAC NP_001269472.1:p.Lys108=
NM_001282545.2:c.215+15568_215+15569delinsAC NP_001269474.1:n.215+15568_215+15569delinsAC
NM_001282548.2:c.158+27919_158+27920delinsAC NP_001269477.1:n.158+27919_158+27920delinsAC
NM_001282549.2:c.364+10804_364+10805delinsAC NP_001269478.1:n.364+10804_364+10805delinsAC
NR_104212.2:n.346_347delinsAC
NR_104215.2:n.289_290delinsAC
NR_104216.2:n.478+10804_478+10805delinsAC