Canonical Allele Identifier: CA2701486910
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs2105990759

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730478del , CM000664.2:g.214730478del GRCh38
NC_000002.11:g.215595202del , CM000664.1:g.215595202del GRCh37
NC_000002.10:g.215303447del NCBI36
NG_012047.2:g.84227del
NG_012047.3:g.84234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1934del MANE Select ENSP00000260947.4:p.Cys645LeufsTer?
ENST00000421162.2:c.581del ENSP00000392245.2:p.Cys194LeufsTer?
ENST00000613192.2:c.189del ENSP00000483275.2:p.Met63IlefsTer?
ENST00000613374.5:c.524del ENSP00000484464.1:p.Cys175LeufsTer?
ENST00000613706.5:c.1526del ENSP00000484976.2:p.Cys509LeufsTer?
ENST00000617164.5:c.1877del ENSP00000480470.1:p.Cys626LeufsTer?
ENST00000619009.5:c.395del ENSP00000482293.1:p.Cys132LeufsTer?
ENST00000650978.1:c.3309del
ENST00000260947.8:c.1934del ENSP00000260947.4:p.Cys645LeufsTer?
ENST00000421162.1:c.581del ENSP00000392245.1:p.Cys194LeufsTer?
ENST00000432456.5:c.31del
ENST00000455743.5:c.*1554del ENSP00000412186.1:n.*1554del
ENST00000471590.5:n.269del
ENST00000613192.1:c.104del ENSP00000483275.1:p.Cys35LeufsTer?
ENST00000613374.4:c.524del ENSP00000484464.1:p.Cys175LeufsTer?
ENST00000613706.4:c.581del ENSP00000484976.1:p.Cys194LeufsTer?
ENST00000617164.4:c.1877del ENSP00000480470.1:p.Cys626LeufsTer?
ENST00000619009.4:c.395del ENSP00000482293.1:p.Cys132LeufsTer?
ENST00000620057.4:c.*600del ENSP00000481988.1:n.*600del
NM_000465.3:c.1934del NP_000456.2:p.Cys645LeufsTer?
NM_001282543.1:c.1877del NP_001269472.1:p.Cys626LeufsTer?
NM_001282545.1:c.581del NP_001269474.1:p.Cys194LeufsTer?
NM_001282548.1:c.524del NP_001269477.1:p.Cys175LeufsTer?
NM_001282549.1:c.395del NP_001269478.1:p.Cys132LeufsTer?
NR_104212.1:n.1927del
NR_104215.1:n.1870del
NR_104216.1:n.1126del
XM_011511567.1:c.1880del XP_011509869.1:p.Cys627LeufsTer?
XM_017004613.1:c.2033del XP_016860102.1:p.Cys678LeufsTer?
XR_002959322.1:n.2124del
NM_000465.4:c.1934del MANE Select NP_000456.2:p.Cys645LeufsTer?
NM_001282543.2:c.1877del NP_001269472.1:p.Cys626LeufsTer?
NM_001282545.2:c.581del NP_001269474.1:p.Cys194LeufsTer?
NM_001282548.2:c.524del NP_001269477.1:p.Cys175LeufsTer?
NM_001282549.2:c.395del NP_001269478.1:p.Cys132LeufsTer?
NR_104212.2:n.1899del
NR_104215.2:n.1842del
NR_104216.2:n.1098del