Canonical Allele Identifier: CA3249308028
Community Standard Title: NM_000465.4(BARD1):c.1316_1318del (p.Gly439del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214769310_214769312del , CM000664.2:g.214769310_214769312del GRCh38
NC_000002.11:g.215634034_215634036del , CM000664.1:g.215634034_215634036del GRCh37
NC_000002.10:g.215342279_215342281del NCBI36
NG_012047.2:g.45394_45396del
NG_012047.3:g.45401_45403del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1316_1318del MANE Select NP_000456.2:p.Gly439del
ENST00000260947.9:c.1316_1318del MANE Select ENSP00000260947.4:p.Gly439del
NM_000465.3:c.1316_1318del NP_000456.2:p.Gly439del
NM_001282543.1:c.1259_1261del NP_001269472.1:p.Gly420del
NM_001282543.2:c.1259_1261del NP_001269472.1:p.Gly420del
NM_001282545.1:c.216-16756_216-16754del NP_001269474.1:n.216-16756_216-16754del
NM_001282545.2:c.216-16756_216-16754del NP_001269474.1:n.216-16756_216-16754del
NM_001282548.1:c.159-16756_159-16754del NP_001269477.1:n.159-16756_159-16754del
NM_001282548.2:c.159-16756_159-16754del NP_001269477.1:n.159-16756_159-16754del
NM_001282549.1:c.364+22986_364+22988del NP_001269478.1:n.364+22986_364+22988del
NM_001282549.2:c.364+22986_364+22988del NP_001269478.1:n.364+22986_364+22988del
NR_104212.1:n.1309_1311del
NR_104212.2:n.1281_1283del
NR_104215.1:n.1252_1254del
NR_104215.2:n.1224_1226del
NR_104216.1:n.508_510del
NR_104216.2:n.480_482del
ENST00000260947.8:c.1316_1318del ENSP00000260947.4:p.Gly439del
ENST00000421162.1:c.216-16756_216-16754del ENSP00000392245.1:n.216-16756_216-16754del
ENST00000421162.2:c.216-16756_216-16754del ENSP00000392245.2:n.216-16756_216-16754del
ENST00000455743.5:c.*936_*938del ENSP00000412186.1:n.*936_*938del
ENST00000613192.1:c.74-38803_74-38801del ENSP00000483275.1:n.74-38803_74-38801del
ENST00000613192.2:c.159-38803_159-38801del ENSP00000483275.2:n.159-38803_159-38801del
ENST00000613374.4:c.159-16756_159-16754del ENSP00000484464.1:n.159-16756_159-16754del
ENST00000613374.5:c.159-16756_159-16754del ENSP00000484464.1:n.159-16756_159-16754del
ENST00000613706.4:c.216-16756_216-16754del ENSP00000484976.1:n.216-16756_216-16754del
ENST00000613706.5:c.908_910del ENSP00000484976.2:p.Gly303del
ENST00000617164.4:c.1259_1261del ENSP00000480470.1:p.Gly420del
ENST00000617164.5:c.1259_1261del ENSP00000480470.1:p.Gly420del
ENST00000619009.4:c.364+22986_364+22988del ENSP00000482293.1:n.364+22986_364+22988del
ENST00000619009.5:c.364+22986_364+22988del ENSP00000482293.1:n.364+22986_364+22988del
ENST00000620057.4:c.366_368del ENSP00000481988.1:p.Arg123del
ENST00000650978.1:c.2691_2693del
XM_011511567.1:c.1262_1264del XP_011509869.1:p.Gly421del
XM_011511568.1:c.1316_1318del XP_011509870.1:p.Gly439del
XM_017004613.1:c.1415_1417del XP_016860102.1:p.Gly472del
XM_017004614.1:c.1415_1417del XP_016860103.1:p.Gly472del
XR_002959322.1:n.1506_1508del