Canonical Allele Identifier: CA1327045520
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728783A= , CM000664.2:g.214728783A= GRCh38
NC_000002.11:g.215593507A= , CM000664.1:g.215593507A= GRCh37
NC_000002.10:g.215301752A= NCBI36
NG_012047.2:g.85922T=
NG_012047.3:g.85929T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2227T= MANE Select ENSP00000260947.4:p.Cys743=
ENST00000421162.2:c.874T= ENSP00000392245.2:p.Cys292=
ENST00000613192.2:c.*290T= ENSP00000483275.2:n.*290T=
ENST00000613374.5:c.817T= ENSP00000484464.1:p.Cys273=
ENST00000613706.5:c.1819T= ENSP00000484976.2:p.Cys607=
ENST00000617164.5:c.2170T= ENSP00000480470.1:p.Cys724=
ENST00000619009.5:c.688T= ENSP00000482293.1:p.Cys230=
ENST00000650978.1:c.3602T=
ENST00000260947.8:c.2227T= ENSP00000260947.4:p.Cys743=
ENST00000432456.5:c.370T=
ENST00000455743.5:c.*1847T= ENSP00000412186.1:n.*1847T=
ENST00000471590.5:n.562T=
ENST00000613192.1:c.397T= ENSP00000483275.1:p.Cys133=
ENST00000613374.4:c.817T= ENSP00000484464.1:p.Cys273=
ENST00000613706.4:c.874T= ENSP00000484976.1:p.Cys292=
ENST00000617164.4:c.2170T= ENSP00000480470.1:p.Cys724=
ENST00000619009.4:c.688T= ENSP00000482293.1:p.Cys230=
ENST00000620057.4:c.*893T= ENSP00000481988.1:n.*893T=
NM_000465.3:c.2227T= NP_000456.2:p.Cys743=
NM_001282543.1:c.2170T= NP_001269472.1:p.Cys724=
NM_001282545.1:c.874T= NP_001269474.1:p.Cys292=
NM_001282548.1:c.817T= NP_001269477.1:p.Cys273=
NM_001282549.1:c.688T= NP_001269478.1:p.Cys230=
NR_104212.1:n.2220T=
NR_104215.1:n.2163T=
NR_104216.1:n.1419T=
XM_011511567.1:c.2173T= XP_011509869.1:p.Cys725=
XM_017004613.1:c.2326T= XP_016860102.1:p.Cys776=
XR_002959322.1:n.2593T=
NM_000465.4:c.2227T= MANE Select NP_000456.2:p.Cys743=
NM_001282543.2:c.2170T= NP_001269472.1:p.Cys724=
NM_001282545.2:c.874T= NP_001269474.1:p.Cys292=
NM_001282548.2:c.817T= NP_001269477.1:p.Cys273=
NM_001282549.2:c.688T= NP_001269478.1:p.Cys230=
NR_104212.2:n.2192T=
NR_104215.2:n.2135T=
NR_104216.2:n.1391T=