Canonical Allele Identifier: CA2754203957
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780774_214780775insTTCTTCACCACCTTCATGCAAACGTA , CM000664.2:g.214780774_214780775insTTCTTCACCACCTTCATGCAAACGTA GRCh38
NC_000002.11:g.215645498_215645499insTTCTTCACCACCTTCATGCAAACGTA , CM000664.1:g.215645498_215645499insTTCTTCACCACCTTCATGCAAACGTA GRCh37
NC_000002.10:g.215353743_215353744insTTCTTCACCACCTTCATGCAAACGTA NCBI36
NG_012047.2:g.33930_33931insTACGTTTGCATGAAGGTGGTGAAGAA
NG_012047.3:g.33937_33938insTACGTTTGCATGAAGGTGGTGAAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1099_1100insTACGTTTGCATGAAGGTGGTGAAGAA MANE Select ENSP00000260947.4:p.Ser367LeufsTer?
ENST00000421162.2:c.215+16286_215+16287insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000392245.2:n.215+16286_215+16287insTACGTTTGCATGAAGGTGG...
ENST00000613192.2:c.158+28637_158+28638insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000483275.2:n.158+28637_158+28638insTACGTTTGCATGAAGGTGG...
ENST00000613374.5:c.159-28220_159-28219insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000484464.1:n.159-28220_159-28219insTACGTTTGCATGAAGGTGG...
ENST00000613706.5:c.906+193_906+194insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000484976.2:n.906+193_906+194insTACGTTTGCATGAAGGTGGTGAA...
ENST00000617164.5:c.1042_1043insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000480470.1:p.Ser348LeufsTer?
ENST00000619009.5:c.364+11522_364+11523insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000482293.1:n.364+11522_364+11523insTACGTTTGCATGAAGGTGG...
ENST00000650978.1:c.941_942insTACGTTTGCATGAAGGTGGTGAAGAA
ENST00000260947.8:c.1099_1100insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000260947.4:p.Ser367LeufsTer?
ENST00000421162.1:c.215+16286_215+16287insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000392245.1:n.215+16286_215+16287insTACGTTTGCATGAAGGTGG...
ENST00000455743.5:c.*719_*720insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000412186.1:n.*719_*720insTACGTTTGCATGAAGGTGGTGAAGAA
ENST00000613192.1:c.73+28637_73+28638insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000483275.1:n.73+28637_73+28638insTACGTTTGCATGAAGGTGGTG...
ENST00000613374.4:c.159-28220_159-28219insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000484464.1:n.159-28220_159-28219insTACGTTTGCATGAAGGTGG...
ENST00000613706.4:c.215+16286_215+16287insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000484976.1:n.215+16286_215+16287insTACGTTTGCATGAAGGTGG...
ENST00000617164.4:c.1042_1043insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000480470.1:p.Ser348LeufsTer?
ENST00000619009.4:c.364+11522_364+11523insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000482293.1:n.364+11522_364+11523insTACGTTTGCATGAAGGTGG...
ENST00000620057.4:c.365-11463_365-11462insTACGTTTGCATGAAGGTGGTGAAGAA ENSP00000481988.1:n.365-11463_365-11462insTACGTTTGCATGAAGGTGG...
NM_000465.3:c.1099_1100insTACGTTTGCATGAAGGTGGTGAAGAA NP_000456.2:p.Ser367LeufsTer?
NM_001282543.1:c.1042_1043insTACGTTTGCATGAAGGTGGTGAAGAA NP_001269472.1:p.Ser348LeufsTer?
NM_001282545.1:c.215+16286_215+16287insTACGTTTGCATGAAGGTGGTGAAGAA NP_001269474.1:n.215+16286_215+16287insTACGTTTGCATGAAGGTGGTGA...
NM_001282548.1:c.159-28220_159-28219insTACGTTTGCATGAAGGTGGTGAAGAA NP_001269477.1:n.159-28220_159-28219insTACGTTTGCATGAAGGTGGTGA...
NM_001282549.1:c.364+11522_364+11523insTACGTTTGCATGAAGGTGGTGAAGAA NP_001269478.1:n.364+11522_364+11523insTACGTTTGCATGAAGGTGGTGA...
NR_104212.1:n.1092_1093insTACGTTTGCATGAAGGTGGTGAAGAA
NR_104215.1:n.1035_1036insTACGTTTGCATGAAGGTGGTGAAGAA
NR_104216.1:n.507-11463_507-11462insTACGTTTGCATGAAGGTGGTGAAGAA
XM_011511567.1:c.1045_1046insTACGTTTGCATGAAGGTGGTGAAGAA XP_011509869.1:p.Ser349LeufsTer?
XM_011511568.1:c.1099_1100insTACGTTTGCATGAAGGTGGTGAAGAA XP_011509870.1:p.Ser367LeufsTer?
XM_017004613.1:c.1198_1199insTACGTTTGCATGAAGGTGGTGAAGAA XP_016860102.1:p.Ser400LeufsTer?
XM_017004614.1:c.1198_1199insTACGTTTGCATGAAGGTGGTGAAGAA XP_016860103.1:p.Ser400LeufsTer?
XR_002959322.1:n.1289_1290insTACGTTTGCATGAAGGTGGTGAAGAA
NM_000465.4:c.1099_1100insTACGTTTGCATGAAGGTGGTGAAGAA MANE Select NP_000456.2:p.Ser367LeufsTer?
NM_001282543.2:c.1042_1043insTACGTTTGCATGAAGGTGGTGAAGAA NP_001269472.1:p.Ser348LeufsTer?
NM_001282545.2:c.215+16286_215+16287insTACGTTTGCATGAAGGTGGTGAAGAA NP_001269474.1:n.215+16286_215+16287insTACGTTTGCATGAAGGTGGTGA...
NM_001282548.2:c.159-28220_159-28219insTACGTTTGCATGAAGGTGGTGAAGAA NP_001269477.1:n.159-28220_159-28219insTACGTTTGCATGAAGGTGGTGA...
NM_001282549.2:c.364+11522_364+11523insTACGTTTGCATGAAGGTGGTGAAGAA NP_001269478.1:n.364+11522_364+11523insTACGTTTGCATGAAGGTGGTGA...
NR_104212.2:n.1064_1065insTACGTTTGCATGAAGGTGGTGAAGAA
NR_104215.2:n.1007_1008insTACGTTTGCATGAAGGTGGTGAAGAA
NR_104216.2:n.479-11463_479-11462insTACGTTTGCATGAAGGTGGTGAAGAA