Canonical Allele Identifier: CA2662969583
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745030del , CM000664.2:g.214745030del GRCh38
NC_000002.11:g.215609754del , CM000664.1:g.215609754del GRCh37
NC_000002.10:g.215317999del NCBI36
NG_012047.2:g.69675del
NG_012047.3:g.69682del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1903+37del MANE Select ENSP00000260947.4:n.1903+37del
ENST00000421162.2:c.550+37del ENSP00000392245.2:n.550+37del
ENST00000613192.2:c.159-14522del ENSP00000483275.2:n.159-14522del
ENST00000613374.5:c.493+37del ENSP00000484464.1:n.493+37del
ENST00000613706.5:c.1495+37del ENSP00000484976.2:n.1495+37del
ENST00000617164.5:c.1846+37del ENSP00000480470.1:n.1846+37del
ENST00000619009.5:c.365-14522del ENSP00000482293.1:n.365-14522del
ENST00000650978.1:c.3278+37del
ENST00000260947.8:c.1903+37del ENSP00000260947.4:n.1903+37del
ENST00000421162.1:c.550+37del ENSP00000392245.1:n.550+37del
ENST00000455743.5:c.*1523+37del ENSP00000412186.1:n.*1523+37del
ENST00000613192.1:c.74-14522del ENSP00000483275.1:n.74-14522del
ENST00000613374.4:c.493+37del ENSP00000484464.1:n.493+37del
ENST00000613706.4:c.550+37del ENSP00000484976.1:n.550+37del
ENST00000617164.4:c.1846+37del ENSP00000480470.1:n.1846+37del
ENST00000619009.4:c.365-14522del ENSP00000482293.1:n.365-14522del
ENST00000620057.4:c.*569+37del ENSP00000481988.1:n.*569+37del
NM_000465.3:c.1903+37del NP_000456.2:n.1903+37del
NM_001282543.1:c.1846+37del NP_001269472.1:n.1846+37del
NM_001282545.1:c.550+37del NP_001269474.1:n.550+37del
NM_001282548.1:c.493+37del NP_001269477.1:n.493+37del
NM_001282549.1:c.365-14522del NP_001269478.1:n.365-14522del
NR_104212.1:n.1896+37del
NR_104215.1:n.1839+37del
NR_104216.1:n.1095+37del
XM_011511567.1:c.1849+37del XP_011509869.1:n.1849+37del
XM_011511568.1:c.1903+37del XP_011509870.1:n.1903+37del
XM_017004613.1:c.2002+37del XP_016860102.1:n.2002+37del
XM_017004614.1:c.2002+37del XP_016860103.1:n.2002+37del
XR_002959322.1:n.2093+37del
NM_000465.4:c.1903+37del MANE Select NP_000456.2:n.1903+37del
NM_001282543.2:c.1846+37del NP_001269472.1:n.1846+37del
NM_001282545.2:c.550+37del NP_001269474.1:n.550+37del
NM_001282548.2:c.493+37del NP_001269477.1:n.493+37del
NM_001282549.2:c.365-14522del NP_001269478.1:n.365-14522del
NR_104212.2:n.1868+37del
NR_104215.2:n.1811+37del
NR_104216.2:n.1067+37del