Canonical Allele Identifier: CA2662972036
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792234_214792235del , CM000664.2:g.214792234_214792235del GRCh38
NC_000002.11:g.215656958_215656959del , CM000664.1:g.215656958_215656959del GRCh37
NC_000002.10:g.215365203_215365204del NCBI36
NG_012047.2:g.22470_22471del
NG_012047.3:g.22477_22478del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.364+62_364+63del MANE Select ENSP00000260947.4:n.364+62_364+63del
ENST00000421162.2:c.215+4826_215+4827del ENSP00000392245.2:n.215+4826_215+4827del
ENST00000613192.2:c.158+17177_158+17178del ENSP00000483275.2:n.158+17177_158+17178de...
ENST00000613374.5:c.158+17177_158+17178del ENSP00000484464.1:n.158+17177_158+17178de...
ENST00000613706.5:c.364+62_364+63del ENSP00000484976.2:n.364+62_364+63del
ENST00000617164.5:c.307+62_307+63del ENSP00000480470.1:n.307+62_307+63del
ENST00000619009.5:c.364+62_364+63del ENSP00000482293.1:n.364+62_364+63del
ENST00000650978.1:c.206+62_206+63del
ENST00000260947.8:c.364+62_364+63del ENSP00000260947.4:n.364+62_364+63del
ENST00000421162.1:c.215+4826_215+4827del ENSP00000392245.1:n.215+4826_215+4827del
ENST00000455743.5:c.215+4826_215+4827del ENSP00000412186.1:n.215+4826_215+4827del
ENST00000471787.1:n.260-10726_260-10725del
ENST00000613192.1:c.73+17177_73+17178del ENSP00000483275.1:n.73+17177_73+17178del
ENST00000613374.4:c.158+17177_158+17178del ENSP00000484464.1:n.158+17177_158+17178de...
ENST00000613706.4:c.215+4826_215+4827del ENSP00000484976.1:n.215+4826_215+4827del
ENST00000617164.4:c.307+62_307+63del ENSP00000480470.1:n.307+62_307+63del
ENST00000619009.4:c.364+62_364+63del ENSP00000482293.1:n.364+62_364+63del
ENST00000620057.4:c.364+62_364+63del ENSP00000481988.1:n.364+62_364+63del
NM_000465.3:c.364+62_364+63del NP_000456.2:n.364+62_364+63del
NM_001282543.1:c.307+62_307+63del NP_001269472.1:n.307+62_307+63del
NM_001282545.1:c.215+4826_215+4827del NP_001269474.1:n.215+4826_215+4827del
NM_001282548.1:c.158+17177_158+17178del NP_001269477.1:n.158+17177_158+17178del
NM_001282549.1:c.364+62_364+63del NP_001269478.1:n.364+62_364+63del
NR_104212.1:n.357+4826_357+4827del
NR_104215.1:n.301-10726_301-10725del
NR_104216.1:n.506+62_506+63del
XM_011511567.1:c.310+62_310+63del XP_011509869.1:n.310+62_310+63del
XM_011511568.1:c.364+62_364+63del XP_011509870.1:n.364+62_364+63del
XM_017004613.1:c.463+62_463+63del XP_016860102.1:n.463+62_463+63del
XM_017004614.1:c.463+62_463+63del XP_016860103.1:n.463+62_463+63del
XR_002959322.1:n.554+62_554+63del
NM_000465.4:c.364+62_364+63del MANE Select NP_000456.2:n.364+62_364+63del
NM_001282543.2:c.307+62_307+63del NP_001269472.1:n.307+62_307+63del
NM_001282545.2:c.215+4826_215+4827del NP_001269474.1:n.215+4826_215+4827del
NM_001282548.2:c.158+17177_158+17178del NP_001269477.1:n.158+17177_158+17178del
NM_001282549.2:c.364+62_364+63del NP_001269478.1:n.364+62_364+63del
NR_104212.2:n.329+4826_329+4827del
NR_104215.2:n.273-10726_273-10725del
NR_104216.2:n.478+62_478+63del