Canonical Allele Identifier: CA165157
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141342
ClinVar RCV Id: RCV000129827
dbSNP Id: rs587781671

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781215_214781218del , CM000664.2:g.214781215_214781218del GRCh38
NC_000002.11:g.215645939_215645942del , CM000664.1:g.215645939_215645942del GRCh37
NC_000002.10:g.215354184_215354187del NCBI36
NG_012047.2:g.33488_33491del
NG_012047.3:g.33495_33498del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.657_660del MANE Select ENSP00000260947.4:p.Asn219LysfsTer?
ENST00000421162.2:c.215+15844_215+15847del ENSP00000392245.2:n.215+15844_215+15847de...
ENST00000613192.2:c.158+28195_158+28198del ENSP00000483275.2:n.158+28195_158+28198de...
ENST00000613374.5:c.158+28195_158+28198del ENSP00000484464.1:n.158+28195_158+28198de...
ENST00000613706.5:c.657_660del ENSP00000484976.2:p.Asn219LysfsTer?
ENST00000617164.5:c.600_603del ENSP00000480470.1:p.Asn200LysfsTer?
ENST00000619009.5:c.364+11080_364+11083del ENSP00000482293.1:n.364+11080_364+11083de...
ENST00000650978.1:c.499_502del
ENST00000260947.8:c.657_660del ENSP00000260947.4:p.Asn219LysfsTer?
ENST00000421162.1:c.215+15844_215+15847del ENSP00000392245.1:n.215+15844_215+15847de...
ENST00000455743.5:c.*277_*280del ENSP00000412186.1:n.*277_*280del
ENST00000471787.1:n.552_555del
ENST00000613192.1:c.73+28195_73+28198del ENSP00000483275.1:n.73+28195_73+28198del
ENST00000613374.4:c.158+28195_158+28198del ENSP00000484464.1:n.158+28195_158+28198de...
ENST00000613706.4:c.215+15844_215+15847del ENSP00000484976.1:n.215+15844_215+15847de...
ENST00000617164.4:c.600_603del ENSP00000480470.1:p.Asn200LysfsTer?
ENST00000619009.4:c.364+11080_364+11083del ENSP00000482293.1:n.364+11080_364+11083de...
ENST00000620057.4:c.364+11080_364+11083del ENSP00000481988.1:n.364+11080_364+11083de...
NM_000465.3:c.657_660del NP_000456.2:p.Asn219LysfsTer?
NM_001282543.1:c.600_603del NP_001269472.1:p.Asn200LysfsTer?
NM_001282545.1:c.215+15844_215+15847del NP_001269474.1:n.215+15844_215+15847del
NM_001282548.1:c.158+28195_158+28198del NP_001269477.1:n.158+28195_158+28198del
NM_001282549.1:c.364+11080_364+11083del NP_001269478.1:n.364+11080_364+11083del
NR_104212.1:n.650_653del
NR_104215.1:n.593_596del
NR_104216.1:n.506+11080_506+11083del
XM_011511567.1:c.603_606del XP_011509869.1:p.Asn201LysfsTer?
XM_011511568.1:c.657_660del XP_011509870.1:p.Asn219LysfsTer?
XM_017004613.1:c.756_759del XP_016860102.1:p.Asn252LysfsTer?
XM_017004614.1:c.756_759del XP_016860103.1:p.Asn252LysfsTer?
XR_002959322.1:n.847_850del
NM_000465.4:c.657_660del MANE Select NP_000456.2:p.Asn219LysfsTer?
NM_001282543.2:c.600_603del NP_001269472.1:p.Asn200LysfsTer?
NM_001282545.2:c.215+15844_215+15847del NP_001269474.1:n.215+15844_215+15847del
NM_001282548.2:c.158+28195_158+28198del NP_001269477.1:n.158+28195_158+28198del
NM_001282549.2:c.364+11080_364+11083del NP_001269478.1:n.364+11080_364+11083del
NR_104212.2:n.622_625del
NR_104215.2:n.565_568del
NR_104216.2:n.478+11080_478+11083del