Canonical Allele Identifier: CA2695197116
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2664374
ClinVar RCV Id: RCV003445472

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780917_214780923del , CM000664.2:g.214780917_214780923del GRCh38
NC_000002.11:g.215645641_215645647del , CM000664.1:g.215645641_215645647del GRCh37
NC_000002.10:g.215353886_215353892del NCBI36
NG_012047.2:g.33782_33788del
NG_012047.3:g.33789_33795del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.951_957del MANE Select ENSP00000260947.4:p.Asn318GlufsTer22
ENST00000421162.2:c.215+16138_215+16144del ENSP00000392245.2:n.215+16138_215+16144de...
ENST00000613192.2:c.158+28489_158+28495del ENSP00000483275.2:n.158+28489_158+28495de...
ENST00000613374.5:c.159-28368_159-28362del ENSP00000484464.1:n.159-28368_159-28362de...
ENST00000613706.5:c.906+45_906+51del ENSP00000484976.2:n.906+45_906+51del
ENST00000617164.5:c.894_900del ENSP00000480470.1:p.Asn299GlufsTer22
ENST00000619009.5:c.364+11374_364+11380del ENSP00000482293.1:n.364+11374_364+11380de...
ENST00000650978.1:c.793_799del
ENST00000260947.8:c.951_957del ENSP00000260947.4:p.Asn318GlufsTer22
ENST00000421162.1:c.215+16138_215+16144del ENSP00000392245.1:n.215+16138_215+16144de...
ENST00000455743.5:c.*571_*577del ENSP00000412186.1:n.*571_*577del
ENST00000471787.1:n.846_852del
ENST00000613192.1:c.73+28489_73+28495del ENSP00000483275.1:n.73+28489_73+28495del
ENST00000613374.4:c.159-28368_159-28362del ENSP00000484464.1:n.159-28368_159-28362de...
ENST00000613706.4:c.215+16138_215+16144del ENSP00000484976.1:n.215+16138_215+16144de...
ENST00000617164.4:c.894_900del ENSP00000480470.1:p.Asn299GlufsTer22
ENST00000619009.4:c.364+11374_364+11380del ENSP00000482293.1:n.364+11374_364+11380de...
ENST00000620057.4:c.364+11374_364+11380del ENSP00000481988.1:n.364+11374_364+11380de...
NM_000465.3:c.951_957del NP_000456.2:p.Asn318GlufsTer22
NM_001282543.1:c.894_900del NP_001269472.1:p.Asn299GlufsTer22
NM_001282545.1:c.215+16138_215+16144del NP_001269474.1:n.215+16138_215+16144del
NM_001282548.1:c.159-28368_159-28362del NP_001269477.1:n.159-28368_159-28362del
NM_001282549.1:c.364+11374_364+11380del NP_001269478.1:n.364+11374_364+11380del
NR_104212.1:n.944_950del
NR_104215.1:n.887_893del
NR_104216.1:n.506+11374_506+11380del
XM_011511567.1:c.897_903del XP_011509869.1:p.Asn300GlufsTer22
XM_011511568.1:c.951_957del XP_011509870.1:p.Asn318GlufsTer22
XM_017004613.1:c.1050_1056del XP_016860102.1:p.Asn351GlufsTer22
XM_017004614.1:c.1050_1056del XP_016860103.1:p.Asn351GlufsTer22
XR_002959322.1:n.1141_1147del
NM_000465.4:c.951_957del MANE Select NP_000456.2:p.Asn318GlufsTer22
NM_001282543.2:c.894_900del NP_001269472.1:p.Asn299GlufsTer22
NM_001282545.2:c.215+16138_215+16144del NP_001269474.1:n.215+16138_215+16144del
NM_001282548.2:c.159-28368_159-28362del NP_001269477.1:n.159-28368_159-28362del
NM_001282549.2:c.364+11374_364+11380del NP_001269478.1:n.364+11374_364+11380del
NR_104212.2:n.916_922del
NR_104215.2:n.859_865del
NR_104216.2:n.478+11374_478+11380del