Canonical Allele Identifier: CA2662969494
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728494_214728496del , CM000664.2:g.214728494_214728496del GRCh38
NC_000002.11:g.215593218_215593220del , CM000664.1:g.215593218_215593220del GRCh37
NC_000002.10:g.215301463_215301465del NCBI36
NG_012047.2:g.86211_86213del
NG_012047.3:g.86218_86220del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.*182_*184del MANE Select ENSP00000260947.4:n.*182_*184del
ENST00000260947.8:c.*182_*184del ENSP00000260947.4:n.*182_*184del
ENST00000471590.5:n.851_853del
ENST00000613374.4:c.*182_*184del ENSP00000484464.1:n.*182_*184del
ENST00000613706.4:c.*182_*184del ENSP00000484976.1:n.*182_*184del
ENST00000617164.4:c.*182_*184del ENSP00000480470.1:n.*182_*184del
ENST00000619009.4:c.*182_*184del ENSP00000482293.1:n.*182_*184del
NM_000465.3:c.*182_*184del NP_000456.2:n.*182_*184del
NM_001282543.1:c.*182_*184del NP_001269472.1:n.*182_*184del
NM_001282545.1:c.*182_*184del NP_001269474.1:n.*182_*184del
NM_001282548.1:c.*182_*184del NP_001269477.1:n.*182_*184del
NM_001282549.1:c.*182_*184del NP_001269478.1:n.*182_*184del
NR_104212.1:n.2509_2511del
NR_104215.1:n.2452_2454del
NR_104216.1:n.1708_1710del
XM_011511567.1:c.*182_*184del XP_011509869.1:n.*182_*184del
XM_017004613.1:c.*182_*184del XP_016860102.1:n.*182_*184del
NM_000465.4:c.*182_*184del MANE Select NP_000456.2:n.*182_*184del
NM_001282543.2:c.*182_*184del NP_001269472.1:n.*182_*184del
NM_001282545.2:c.*182_*184del NP_001269474.1:n.*182_*184del
NM_001282548.2:c.*182_*184del NP_001269477.1:n.*182_*184del
NM_001282549.2:c.*182_*184del NP_001269478.1:n.*182_*184del
NR_104212.2:n.2481_2483del
NR_104215.2:n.2424_2426del
NR_104216.2:n.1680_1682del