Canonical Allele Identifier: CA1327071127
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780871_214780872delinsTC , CM000664.2:g.214780871_214780872delinsTC GRCh38
NC_000002.11:g.215645595_215645596delinsTC , CM000664.1:g.215645595_215645596delinsTC GRCh37
NC_000002.10:g.215353840_215353841delinsTC NCBI36
NG_012047.2:g.33833_33834delinsGA
NG_012047.3:g.33840_33841delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1002_1003delinsGA MANE Select ENSP00000260947.4:p.Lys334=
ENST00000421162.2:c.215+16189_215+16190delinsGA ENSP00000392245.2:n.215+16189_215+16190delinsGA
ENST00000613192.2:c.158+28540_158+28541delinsGA ENSP00000483275.2:n.158+28540_158+28541delinsGA
ENST00000613374.5:c.159-28317_159-28316delinsGA ENSP00000484464.1:n.159-28317_159-28316delinsGA
ENST00000613706.5:c.906+96_906+97delinsGA ENSP00000484976.2:n.906+96_906+97delinsGA
ENST00000617164.5:c.945_946delinsGA ENSP00000480470.1:p.Lys315=
ENST00000619009.5:c.364+11425_364+11426delinsGA ENSP00000482293.1:n.364+11425_364+11426delinsGA
ENST00000650978.1:c.844_845delinsGA
ENST00000260947.8:c.1002_1003delinsGA ENSP00000260947.4:p.Lys334=
ENST00000421162.1:c.215+16189_215+16190delinsGA ENSP00000392245.1:n.215+16189_215+16190delinsGA
ENST00000455743.5:c.*622_*623delinsGA ENSP00000412186.1:n.*622_*623delinsGA
ENST00000613192.1:c.73+28540_73+28541delinsGA ENSP00000483275.1:n.73+28540_73+28541delinsGA
ENST00000613374.4:c.159-28317_159-28316delinsGA ENSP00000484464.1:n.159-28317_159-28316delinsGA
ENST00000613706.4:c.215+16189_215+16190delinsGA ENSP00000484976.1:n.215+16189_215+16190delinsGA
ENST00000617164.4:c.945_946delinsGA ENSP00000480470.1:p.Lys315=
ENST00000619009.4:c.364+11425_364+11426delinsGA ENSP00000482293.1:n.364+11425_364+11426delinsGA
ENST00000620057.4:c.364+11425_364+11426delinsGA ENSP00000481988.1:n.364+11425_364+11426delinsGA
NM_000465.3:c.1002_1003delinsGA NP_000456.2:p.Lys334=
NM_001282543.1:c.945_946delinsGA NP_001269472.1:p.Lys315=
NM_001282545.1:c.215+16189_215+16190delinsGA NP_001269474.1:n.215+16189_215+16190delinsGA
NM_001282548.1:c.159-28317_159-28316delinsGA NP_001269477.1:n.159-28317_159-28316delinsGA
NM_001282549.1:c.364+11425_364+11426delinsGA NP_001269478.1:n.364+11425_364+11426delinsGA
NR_104212.1:n.995_996delinsGA
NR_104215.1:n.938_939delinsGA
NR_104216.1:n.506+11425_506+11426delinsGA
XM_011511567.1:c.948_949delinsGA XP_011509869.1:p.Lys316=
XM_011511568.1:c.1002_1003delinsGA XP_011509870.1:p.Lys334=
XM_017004613.1:c.1101_1102delinsGA XP_016860102.1:p.Lys367=
XM_017004614.1:c.1101_1102delinsGA XP_016860103.1:p.Lys367=
XR_002959322.1:n.1192_1193delinsGA
NM_000465.4:c.1002_1003delinsGA MANE Select NP_000456.2:p.Lys334=
NM_001282543.2:c.945_946delinsGA NP_001269472.1:p.Lys315=
NM_001282545.2:c.215+16189_215+16190delinsGA NP_001269474.1:n.215+16189_215+16190delinsGA
NM_001282548.2:c.159-28317_159-28316delinsGA NP_001269477.1:n.159-28317_159-28316delinsGA
NM_001282549.2:c.364+11425_364+11426delinsGA NP_001269478.1:n.364+11425_364+11426delinsGA
NR_104212.2:n.967_968delinsGA
NR_104215.2:n.910_911delinsGA
NR_104216.2:n.478+11425_478+11426delinsGA