Canonical Allele Identifier: CA1327045482
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728740T= , CM000664.2:g.214728740T= GRCh38
NC_000002.11:g.215593464T= , CM000664.1:g.215593464T= GRCh37
NC_000002.10:g.215301709T= NCBI36
NG_012047.2:g.85965A=
NG_012047.3:g.85972A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2270A= MANE Select ENSP00000260947.4:p.Lys757=
ENST00000421162.2:c.917A= ENSP00000392245.2:p.Lys306=
ENST00000613192.2:c.*333A= ENSP00000483275.2:n.*333A=
ENST00000613374.5:c.860A= ENSP00000484464.1:p.Lys287=
ENST00000613706.5:c.1862A= ENSP00000484976.2:p.Lys621=
ENST00000617164.5:c.2213A= ENSP00000480470.1:p.Lys738=
ENST00000619009.5:c.731A= ENSP00000482293.1:p.Lys244=
ENST00000650978.1:c.3645A=
ENST00000260947.8:c.2270A= ENSP00000260947.4:p.Lys757=
ENST00000432456.5:c.413A=
ENST00000455743.5:c.*1890A= ENSP00000412186.1:n.*1890A=
ENST00000471590.5:n.605A=
ENST00000613192.1:c.440A= ENSP00000483275.1:p.Lys147=
ENST00000613374.4:c.860A= ENSP00000484464.1:p.Lys287=
ENST00000613706.4:c.917A= ENSP00000484976.1:p.Lys306=
ENST00000617164.4:c.2213A= ENSP00000480470.1:p.Lys738=
ENST00000619009.4:c.731A= ENSP00000482293.1:p.Lys244=
ENST00000620057.4:c.*936A= ENSP00000481988.1:n.*936A=
NM_000465.3:c.2270A= NP_000456.2:p.Lys757=
NM_001282543.1:c.2213A= NP_001269472.1:p.Lys738=
NM_001282545.1:c.917A= NP_001269474.1:p.Lys306=
NM_001282548.1:c.860A= NP_001269477.1:p.Lys287=
NM_001282549.1:c.731A= NP_001269478.1:p.Lys244=
NR_104212.1:n.2263A=
NR_104215.1:n.2206A=
NR_104216.1:n.1462A=
XM_011511567.1:c.2216A= XP_011509869.1:p.Lys739=
XM_017004613.1:c.2369A= XP_016860102.1:p.Lys790=
XR_002959322.1:n.2636A=
NM_000465.4:c.2270A= MANE Select NP_000456.2:p.Lys757=
NM_001282543.2:c.2213A= NP_001269472.1:p.Lys738=
NM_001282545.2:c.917A= NP_001269474.1:p.Lys306=
NM_001282548.2:c.860A= NP_001269477.1:p.Lys287=
NM_001282549.2:c.731A= NP_001269478.1:p.Lys244=
NR_104212.2:n.2235A=
NR_104215.2:n.2178A=
NR_104216.2:n.1434A=