Canonical Allele Identifier: CA10577825
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 232902
dbSNP Id: rs876660061

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780851del , CM000664.2:g.214780851del GRCh38
NC_000002.11:g.215645575del , CM000664.1:g.215645575del GRCh37
NC_000002.10:g.215353820del NCBI36
NG_012047.2:g.33854del
NG_012047.3:g.33861del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1023del MANE Select ENSP00000260947.4:p.Ser342AlafsTer?
ENST00000421162.2:c.215+16210del ENSP00000392245.2:n.215+16210del
ENST00000613192.2:c.158+28561del ENSP00000483275.2:n.158+28561del
ENST00000613374.5:c.159-28296del ENSP00000484464.1:n.159-28296del
ENST00000613706.5:c.906+117del ENSP00000484976.2:n.906+117del
ENST00000617164.5:c.966del ENSP00000480470.1:p.Ser323AlafsTer?
ENST00000619009.5:c.364+11446del ENSP00000482293.1:n.364+11446del
ENST00000650978.1:c.865del
ENST00000260947.8:c.1023del ENSP00000260947.4:p.Ser342AlafsTer?
ENST00000421162.1:c.215+16210del ENSP00000392245.1:n.215+16210del
ENST00000455743.5:c.*643del ENSP00000412186.1:n.*643del
ENST00000613192.1:c.73+28561del ENSP00000483275.1:n.73+28561del
ENST00000613374.4:c.159-28296del ENSP00000484464.1:n.159-28296del
ENST00000613706.4:c.215+16210del ENSP00000484976.1:n.215+16210del
ENST00000617164.4:c.966del ENSP00000480470.1:p.Ser323AlafsTer?
ENST00000619009.4:c.364+11446del ENSP00000482293.1:n.364+11446del
ENST00000620057.4:c.364+11446del ENSP00000481988.1:n.364+11446del
NM_000465.3:c.1023del NP_000456.2:p.Ser342AlafsTer?
NM_001282543.1:c.966del NP_001269472.1:p.Ser323AlafsTer?
NM_001282545.1:c.215+16210del NP_001269474.1:n.215+16210del
NM_001282548.1:c.159-28296del NP_001269477.1:n.159-28296del
NM_001282549.1:c.364+11446del NP_001269478.1:n.364+11446del
NR_104212.1:n.1016del
NR_104215.1:n.959del
NR_104216.1:n.506+11446del
XM_011511567.1:c.969del XP_011509869.1:p.Ser324AlafsTer?
XM_011511568.1:c.1023del XP_011509870.1:p.Ser342AlafsTer?
XM_017004613.1:c.1122del XP_016860102.1:p.Ser375AlafsTer?
XM_017004614.1:c.1122del XP_016860103.1:p.Ser375AlafsTer?
XR_002959322.1:n.1213del
NM_000465.4:c.1023del MANE Select NP_000456.2:p.Ser342AlafsTer?
NM_001282543.2:c.966del NP_001269472.1:p.Ser323AlafsTer?
NM_001282545.2:c.215+16210del NP_001269474.1:n.215+16210del
NM_001282548.2:c.159-28296del NP_001269477.1:n.159-28296del
NM_001282549.2:c.364+11446del NP_001269478.1:n.364+11446del
NR_104212.2:n.988del
NR_104215.2:n.931del
NR_104216.2:n.478+11446del