Canonical Allele Identifier: CA1327076563
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs536345234

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792164_214792168del , CM000664.2:g.214792164_214792168del GRCh38
NC_000002.11:g.215656888_215656892del , CM000664.1:g.215656888_215656892del GRCh37
NC_000002.10:g.215365133_215365137del NCBI36
NG_012047.2:g.22550_22554del
NG_012047.3:g.22557_22561del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.364+142_364+146del MANE Select ENSP00000260947.4:n.364+142_364+146del
ENST00000421162.2:c.215+4906_215+4910del ENSP00000392245.2:n.215+4906_215+4910del
ENST00000613192.2:c.158+17257_158+17261del ENSP00000483275.2:n.158+17257_158+17261de...
ENST00000613374.5:c.158+17257_158+17261del ENSP00000484464.1:n.158+17257_158+17261de...
ENST00000613706.5:c.364+142_364+146del ENSP00000484976.2:n.364+142_364+146del
ENST00000617164.5:c.307+142_307+146del ENSP00000480470.1:n.307+142_307+146del
ENST00000619009.5:c.364+142_364+146del ENSP00000482293.1:n.364+142_364+146del
ENST00000650978.1:c.206+142_206+146del
ENST00000260947.8:c.364+142_364+146del ENSP00000260947.4:n.364+142_364+146del
ENST00000421162.1:c.215+4906_215+4910del ENSP00000392245.1:n.215+4906_215+4910del
ENST00000455743.5:c.215+4906_215+4910del ENSP00000412186.1:n.215+4906_215+4910del
ENST00000471787.1:n.260-10646_260-10642del
ENST00000613192.1:c.73+17257_73+17261del ENSP00000483275.1:n.73+17257_73+17261del
ENST00000613374.4:c.158+17257_158+17261del ENSP00000484464.1:n.158+17257_158+17261de...
ENST00000613706.4:c.215+4906_215+4910del ENSP00000484976.1:n.215+4906_215+4910del
ENST00000617164.4:c.307+142_307+146del ENSP00000480470.1:n.307+142_307+146del
ENST00000619009.4:c.364+142_364+146del ENSP00000482293.1:n.364+142_364+146del
ENST00000620057.4:c.364+142_364+146del ENSP00000481988.1:n.364+142_364+146del
NM_000465.3:c.364+142_364+146del NP_000456.2:n.364+142_364+146del
NM_001282543.1:c.307+142_307+146del NP_001269472.1:n.307+142_307+146del
NM_001282545.1:c.215+4906_215+4910del NP_001269474.1:n.215+4906_215+4910del
NM_001282548.1:c.158+17257_158+17261del NP_001269477.1:n.158+17257_158+17261del
NM_001282549.1:c.364+142_364+146del NP_001269478.1:n.364+142_364+146del
NR_104212.1:n.357+4906_357+4910del
NR_104215.1:n.301-10646_301-10642del
NR_104216.1:n.506+142_506+146del
XM_011511567.1:c.310+142_310+146del XP_011509869.1:n.310+142_310+146del
XM_011511568.1:c.364+142_364+146del XP_011509870.1:n.364+142_364+146del
XM_017004613.1:c.463+142_463+146del XP_016860102.1:n.463+142_463+146del
XM_017004614.1:c.463+142_463+146del XP_016860103.1:n.463+142_463+146del
XR_002959322.1:n.554+142_554+146del
NM_000465.4:c.364+142_364+146del MANE Select NP_000456.2:n.364+142_364+146del
NM_001282543.2:c.307+142_307+146del NP_001269472.1:n.307+142_307+146del
NM_001282545.2:c.215+4906_215+4910del NP_001269474.1:n.215+4906_215+4910del
NM_001282548.2:c.158+17257_158+17261del NP_001269477.1:n.158+17257_158+17261del
NM_001282549.2:c.364+142_364+146del NP_001269478.1:n.364+142_364+146del
NR_104212.2:n.329+4906_329+4910del
NR_104215.2:n.273-10646_273-10642del
NR_104216.2:n.478+142_478+146del