Canonical Allele Identifier: CA2577234439
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214797034_214797040del , CM000664.2:g.214797034_214797040del GRCh38
NC_000002.11:g.215661758_215661764del , CM000664.1:g.215661758_215661764del GRCh37
NC_000002.10:g.215370003_215370009del NCBI36
NG_012047.2:g.17668_17674del
NG_012047.3:g.17675_17681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.215+24_215+30del MANE Select ENSP00000260947.4:n.215+24_215+30del
ENST00000421162.2:c.215+24_215+30del ENSP00000392245.2:n.215+24_215+30del
ENST00000613192.2:c.158+12375_158+12381del ENSP00000483275.2:n.158+12375_158+12381del
ENST00000613374.5:c.158+12375_158+12381del ENSP00000484464.1:n.158+12375_158+12381del
ENST00000613706.5:c.215+24_215+30del ENSP00000484976.2:n.215+24_215+30del
ENST00000617164.5:c.159-4592_159-4586del ENSP00000480470.1:n.159-4592_159-4586del
ENST00000619009.5:c.215+24_215+30del ENSP00000482293.1:n.215+24_215+30del
ENST00000650978.1:c.57+24_57+30del
ENST00000260947.8:c.215+24_215+30del ENSP00000260947.4:n.215+24_215+30del
ENST00000421162.1:c.215+24_215+30del ENSP00000392245.1:n.215+24_215+30del
ENST00000455743.5:c.215+24_215+30del ENSP00000412186.1:n.215+24_215+30del
ENST00000471787.1:n.259+12375_259+12381del
ENST00000479904.1:n.330_336del
ENST00000613192.1:c.73+12375_73+12381del ENSP00000483275.1:n.73+12375_73+12381del
ENST00000613374.4:c.158+12375_158+12381del ENSP00000484464.1:n.158+12375_158+12381del
ENST00000613706.4:c.215+24_215+30del ENSP00000484976.1:n.215+24_215+30del
ENST00000617164.4:c.159-4592_159-4586del ENSP00000480470.1:n.159-4592_159-4586del
ENST00000619009.4:c.215+24_215+30del ENSP00000482293.1:n.215+24_215+30del
ENST00000620057.4:c.215+24_215+30del ENSP00000481988.1:n.215+24_215+30del
NM_000465.3:c.215+24_215+30del NP_000456.2:n.215+24_215+30del
NM_001282543.1:c.159-4592_159-4586del NP_001269472.1:n.159-4592_159-4586del
NM_001282545.1:c.215+24_215+30del NP_001269474.1:n.215+24_215+30del
NM_001282548.1:c.158+12375_158+12381del NP_001269477.1:n.158+12375_158+12381del
NM_001282549.1:c.215+24_215+30del NP_001269478.1:n.215+24_215+30del
NR_104212.1:n.357+24_357+30del
NR_104215.1:n.300+12375_300+12381del
NR_104216.1:n.357+24_357+30del
XM_011511567.1:c.161+24_161+30del XP_011509869.1:n.161+24_161+30del
XM_011511568.1:c.215+24_215+30del XP_011509870.1:n.215+24_215+30del
XM_017004613.1:c.215+24_215+30del XP_016860102.1:n.215+24_215+30del
XM_017004614.1:c.215+24_215+30del XP_016860103.1:n.215+24_215+30del
XR_002959322.1:n.306+24_306+30del
NM_000465.4:c.215+24_215+30del MANE Select NP_000456.2:n.215+24_215+30del
NM_001282543.2:c.159-4592_159-4586del NP_001269472.1:n.159-4592_159-4586del
NM_001282545.2:c.215+24_215+30del NP_001269474.1:n.215+24_215+30del
NM_001282548.2:c.158+12375_158+12381del NP_001269477.1:n.158+12375_158+12381del
NM_001282549.2:c.215+24_215+30del NP_001269478.1:n.215+24_215+30del
NR_104212.2:n.329+24_329+30del
NR_104215.2:n.272+12375_272+12381del
NR_104216.2:n.329+24_329+30del