Canonical Allele Identifier: CA1327071192
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780971C= , CM000664.2:g.214780971C= GRCh38
NC_000002.11:g.215645695C= , CM000664.1:g.215645695C= GRCh37
NC_000002.10:g.215353940C= NCBI36
NG_012047.2:g.33734G=
NG_012047.3:g.33741G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.903G= MANE Select ENSP00000260947.4:p.Glu301=
ENST00000421162.2:c.215+16090G= ENSP00000392245.2:n.215+16090G=
ENST00000613192.2:c.158+28441G= ENSP00000483275.2:n.158+28441G=
ENST00000613374.5:c.159-28416G= ENSP00000484464.1:n.159-28416G=
ENST00000613706.5:c.903G= ENSP00000484976.2:p.Glu301=
ENST00000617164.5:c.846G= ENSP00000480470.1:p.Glu282=
ENST00000619009.5:c.364+11326G= ENSP00000482293.1:n.364+11326G=
ENST00000650978.1:c.745G=
ENST00000260947.8:c.903G= ENSP00000260947.4:p.Glu301=
ENST00000421162.1:c.215+16090G= ENSP00000392245.1:n.215+16090G=
ENST00000455743.5:c.*523G= ENSP00000412186.1:n.*523G=
ENST00000471787.1:n.798G=
ENST00000613192.1:c.73+28441G= ENSP00000483275.1:n.73+28441G=
ENST00000613374.4:c.159-28416G= ENSP00000484464.1:n.159-28416G=
ENST00000613706.4:c.215+16090G= ENSP00000484976.1:n.215+16090G=
ENST00000617164.4:c.846G= ENSP00000480470.1:p.Glu282=
ENST00000619009.4:c.364+11326G= ENSP00000482293.1:n.364+11326G=
ENST00000620057.4:c.364+11326G= ENSP00000481988.1:n.364+11326G=
NM_000465.3:c.903G= NP_000456.2:p.Glu301=
NM_001282543.1:c.846G= NP_001269472.1:p.Glu282=
NM_001282545.1:c.215+16090G= NP_001269474.1:n.215+16090G=
NM_001282548.1:c.159-28416G= NP_001269477.1:n.159-28416G=
NM_001282549.1:c.364+11326G= NP_001269478.1:n.364+11326G=
NR_104212.1:n.896G=
NR_104215.1:n.839G=
NR_104216.1:n.506+11326G=
XM_011511567.1:c.849G= XP_011509869.1:p.Glu283=
XM_011511568.1:c.903G= XP_011509870.1:p.Glu301=
XM_017004613.1:c.1002G= XP_016860102.1:p.Glu334=
XM_017004614.1:c.1002G= XP_016860103.1:p.Glu334=
XR_002959322.1:n.1093G=
NM_000465.4:c.903G= MANE Select NP_000456.2:p.Glu301=
NM_001282543.2:c.846G= NP_001269472.1:p.Glu282=
NM_001282545.2:c.215+16090G= NP_001269474.1:n.215+16090G=
NM_001282548.2:c.159-28416G= NP_001269477.1:n.159-28416G=
NM_001282549.2:c.364+11326G= NP_001269478.1:n.364+11326G=
NR_104212.2:n.868G=
NR_104215.2:n.811G=
NR_104216.2:n.478+11326G=