Canonical Allele Identifier: CA2662960674
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780460_214780461del , CM000664.2:g.214780460_214780461del GRCh38
NC_000002.11:g.215645184_215645185del , CM000664.1:g.215645184_215645185del GRCh37
NC_000002.10:g.215353429_215353430del NCBI36
NG_012047.2:g.34244_34245del
NG_012047.3:g.34251_34252del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1314+99_1314+100del MANE Select ENSP00000260947.4:n.1314+99_1314+100del
ENST00000421162.2:c.215+16600_215+16601del ENSP00000392245.2:n.215+16600_215+16601del
ENST00000613192.2:c.158+28951_158+28952del ENSP00000483275.2:n.158+28951_158+28952del
ENST00000613374.5:c.159-27906_159-27905del ENSP00000484464.1:n.159-27906_159-27905del
ENST00000613706.5:c.906+507_906+508del ENSP00000484976.2:n.906+507_906+508del
ENST00000617164.5:c.1257+99_1257+100del ENSP00000480470.1:n.1257+99_1257+100del
ENST00000619009.5:c.364+11836_364+11837del ENSP00000482293.1:n.364+11836_364+11837del
ENST00000650978.1:c.1156+99_1156+100del
ENST00000260947.8:c.1314+99_1314+100del ENSP00000260947.4:n.1314+99_1314+100del
ENST00000421162.1:c.215+16600_215+16601del ENSP00000392245.1:n.215+16600_215+16601del
ENST00000455743.5:c.*934+99_*934+100del ENSP00000412186.1:n.*934+99_*934+100del
ENST00000613192.1:c.73+28951_73+28952del ENSP00000483275.1:n.73+28951_73+28952del
ENST00000613374.4:c.159-27906_159-27905del ENSP00000484464.1:n.159-27906_159-27905del
ENST00000613706.4:c.215+16600_215+16601del ENSP00000484976.1:n.215+16600_215+16601del
ENST00000617164.4:c.1257+99_1257+100del ENSP00000480470.1:n.1257+99_1257+100del
ENST00000619009.4:c.364+11836_364+11837del ENSP00000482293.1:n.364+11836_364+11837del
ENST00000620057.4:c.365-11149_365-11148del ENSP00000481988.1:n.365-11149_365-11148del
NM_000465.3:c.1314+99_1314+100del NP_000456.2:n.1314+99_1314+100del
NM_001282543.1:c.1257+99_1257+100del NP_001269472.1:n.1257+99_1257+100del
NM_001282545.1:c.215+16600_215+16601del NP_001269474.1:n.215+16600_215+16601del
NM_001282548.1:c.159-27906_159-27905del NP_001269477.1:n.159-27906_159-27905del
NM_001282549.1:c.364+11836_364+11837del NP_001269478.1:n.364+11836_364+11837del
NR_104212.1:n.1307+99_1307+100del
NR_104215.1:n.1250+99_1250+100del
NR_104216.1:n.507-11149_507-11148del
XM_011511567.1:c.1260+99_1260+100del XP_011509869.1:n.1260+99_1260+100del
XM_011511568.1:c.1314+99_1314+100del XP_011509870.1:n.1314+99_1314+100del
XM_017004613.1:c.1413+99_1413+100del XP_016860102.1:n.1413+99_1413+100del
XM_017004614.1:c.1413+99_1413+100del XP_016860103.1:n.1413+99_1413+100del
XR_002959322.1:n.1504+99_1504+100del
NM_000465.4:c.1314+99_1314+100del MANE Select NP_000456.2:n.1314+99_1314+100del
NM_001282543.2:c.1257+99_1257+100del NP_001269472.1:n.1257+99_1257+100del
NM_001282545.2:c.215+16600_215+16601del NP_001269474.1:n.215+16600_215+16601del
NM_001282548.2:c.159-27906_159-27905del NP_001269477.1:n.159-27906_159-27905del
NM_001282549.2:c.364+11836_364+11837del NP_001269478.1:n.364+11836_364+11837del
NR_104212.2:n.1279+99_1279+100del
NR_104215.2:n.1222+99_1222+100del
NR_104216.2:n.479-11149_479-11148del