Canonical Allele Identifier: CA1327071051
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780775_214780776delinsAA , CM000664.2:g.214780775_214780776delinsAA GRCh38
NC_000002.11:g.215645499_215645500delinsAA , CM000664.1:g.215645499_215645500delinsAA GRCh37
NC_000002.10:g.215353744_215353745delinsAA NCBI36
NG_012047.2:g.33929_33930delinsTT
NG_012047.3:g.33936_33937delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1098_1099delinsTT MANE Select ENSP00000260947.4:p.Pro366=
ENST00000421162.2:c.215+16285_215+16286delinsTT ENSP00000392245.2:n.215+16285_215+16286delinsTT
ENST00000613192.2:c.158+28636_158+28637delinsTT ENSP00000483275.2:n.158+28636_158+28637delinsTT
ENST00000613374.5:c.159-28221_159-28220delinsTT ENSP00000484464.1:n.159-28221_159-28220delinsTT
ENST00000613706.5:c.906+192_906+193delinsTT ENSP00000484976.2:n.906+192_906+193delinsTT
ENST00000617164.5:c.1041_1042delinsTT ENSP00000480470.1:p.Pro347=
ENST00000619009.5:c.364+11521_364+11522delinsTT ENSP00000482293.1:n.364+11521_364+11522delinsTT
ENST00000650978.1:c.940_941delinsTT
ENST00000260947.8:c.1098_1099delinsTT ENSP00000260947.4:p.Pro366=
ENST00000421162.1:c.215+16285_215+16286delinsTT ENSP00000392245.1:n.215+16285_215+16286delinsTT
ENST00000455743.5:c.*718_*719delinsTT ENSP00000412186.1:n.*718_*719delinsTT
ENST00000613192.1:c.73+28636_73+28637delinsTT ENSP00000483275.1:n.73+28636_73+28637delinsTT
ENST00000613374.4:c.159-28221_159-28220delinsTT ENSP00000484464.1:n.159-28221_159-28220delinsTT
ENST00000613706.4:c.215+16285_215+16286delinsTT ENSP00000484976.1:n.215+16285_215+16286delinsTT
ENST00000617164.4:c.1041_1042delinsTT ENSP00000480470.1:p.Pro347=
ENST00000619009.4:c.364+11521_364+11522delinsTT ENSP00000482293.1:n.364+11521_364+11522delinsTT
ENST00000620057.4:c.365-11464_365-11463delinsTT ENSP00000481988.1:n.365-11464_365-11463delinsTT
NM_000465.3:c.1098_1099delinsTT NP_000456.2:p.Pro366=
NM_001282543.1:c.1041_1042delinsTT NP_001269472.1:p.Pro347=
NM_001282545.1:c.215+16285_215+16286delinsTT NP_001269474.1:n.215+16285_215+16286delinsTT
NM_001282548.1:c.159-28221_159-28220delinsTT NP_001269477.1:n.159-28221_159-28220delinsTT
NM_001282549.1:c.364+11521_364+11522delinsTT NP_001269478.1:n.364+11521_364+11522delinsTT
NR_104212.1:n.1091_1092delinsTT
NR_104215.1:n.1034_1035delinsTT
NR_104216.1:n.507-11464_507-11463delinsTT
XM_011511567.1:c.1044_1045delinsTT XP_011509869.1:p.Pro348=
XM_011511568.1:c.1098_1099delinsTT XP_011509870.1:p.Pro366=
XM_017004613.1:c.1197_1198delinsTT XP_016860102.1:p.Pro399=
XM_017004614.1:c.1197_1198delinsTT XP_016860103.1:p.Pro399=
XR_002959322.1:n.1288_1289delinsTT
NM_000465.4:c.1098_1099delinsTT MANE Select NP_000456.2:p.Pro366=
NM_001282543.2:c.1041_1042delinsTT NP_001269472.1:p.Pro347=
NM_001282545.2:c.215+16285_215+16286delinsTT NP_001269474.1:n.215+16285_215+16286delinsTT
NM_001282548.2:c.159-28221_159-28220delinsTT NP_001269477.1:n.159-28221_159-28220delinsTT
NM_001282549.2:c.364+11521_364+11522delinsTT NP_001269478.1:n.364+11521_364+11522delinsTT
NR_104212.2:n.1063_1064delinsTT
NR_104215.2:n.1006_1007delinsTT
NR_104216.2:n.479-11464_479-11463delinsTT