Canonical Allele Identifier: CA190785
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs786201868

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781015_214781016del , CM000664.2:g.214781015_214781016del GRCh38
NC_000002.11:g.215645739_215645740del , CM000664.1:g.215645739_215645740del GRCh37
NC_000002.10:g.215353984_215353985del NCBI36
NG_012047.2:g.33691_33692del
NG_012047.3:g.33698_33699del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.860_861del MANE Select ENSP00000260947.4:p.Glu287ValfsTer5
ENST00000421162.2:c.215+16047_215+16048del ENSP00000392245.2:p.=
ENST00000613192.2:c.158+28398_158+28399del ENSP00000483275.2:p.=
ENST00000613374.5:c.158+28398_158+28399del ENSP00000484464.1:p.=
ENST00000613706.5:c.860_861del ENSP00000484976.2:p.Glu287ValfsTer5
ENST00000617164.5:c.803_804del ENSP00000480470.1:p.Glu268ValfsTer5
ENST00000619009.5:c.364+11283_364+11284del ENSP00000482293.1:p.=
ENST00000650978.1:n.702_703del
ENST00000260947.8:c.860_861del ENSP00000260947.4:p.Glu287ValfsTer5
ENST00000421162.1:c.215+16047_215+16048del ENSP00000392245.1:p.=
ENST00000455743.5:c.*480_*481del ENSP00000412186.1:p.=
ENST00000471787.1:n.755_756del
ENST00000613192.1:c.73+28398_73+28399del ENSP00000483275.1:p.=
ENST00000613374.4:c.158+28398_158+28399del ENSP00000484464.1:p.=
ENST00000613706.4:c.215+16047_215+16048del ENSP00000484976.1:p.=
ENST00000617164.4:c.803_804del ENSP00000480470.1:p.Glu268ValfsTer5
ENST00000619009.4:c.364+11283_364+11284del ENSP00000482293.1:p.=
ENST00000620057.4:c.364+11283_364+11284del ENSP00000481988.1:p.=
NM_000465.3:c.860_861del NP_000456.2:p.Glu287ValfsTer5
NM_001282543.1:c.803_804del NP_001269472.1:p.Glu268ValfsTer5
NM_001282545.1:c.215+16047_215+16048del NP_001269474.1:p.=
NM_001282548.1:c.158+28398_158+28399del NP_001269477.1:p.=
NM_001282549.1:c.364+11283_364+11284del NP_001269478.1:p.=
NR_104212.1:n.853_854del
NR_104215.1:n.796_797del
NR_104216.1:n.506+11283_506+11284del
XM_011511567.1:c.806_807del XP_011509869.1:p.Glu269ValfsTer5
XM_011511568.1:c.860_861del XP_011509870.1:p.Glu287ValfsTer5
XM_017004613.1:c.959_960del XP_016860102.1:p.Glu320ValfsTer5
XM_017004614.1:c.959_960del XP_016860103.1:p.Glu320ValfsTer5
XR_002959322.1:n.1050_1051del
NM_000465.4:c.860_861del MANE Select NP_000456.2:p.Glu287ValfsTer5
NM_001282543.2:c.803_804del NP_001269472.1:p.Glu268ValfsTer5
NM_001282545.2:c.215+16047_215+16048del NP_001269474.1:p.=
NM_001282548.2:c.158+28398_158+28399del NP_001269477.1:p.=
NM_001282549.2:c.364+11283_364+11284del NP_001269478.1:p.=
NR_104212.2:n.825_826del
NR_104215.2:n.768_769del
NR_104216.2:n.478+11283_478+11284del