Canonical Allele Identifier: CA1327076645
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792306C= , CM000664.2:g.214792306C= GRCh38
NC_000002.11:g.215657030C= , CM000664.1:g.215657030C= GRCh37
NC_000002.10:g.215365275C= NCBI36
NG_012047.2:g.22399G=
NG_012047.3:g.22406G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.355G= MANE Select ENSP00000260947.4:p.Glu119=
ENST00000421162.2:c.215+4755G= ENSP00000392245.2:n.215+4755G=
ENST00000613192.2:c.158+17106G= ENSP00000483275.2:n.158+17106G=
ENST00000613374.5:c.158+17106G= ENSP00000484464.1:n.158+17106G=
ENST00000613706.5:c.355G= ENSP00000484976.2:p.Glu119=
ENST00000617164.5:c.298G= ENSP00000480470.1:p.Glu100=
ENST00000619009.5:c.355G= ENSP00000482293.1:p.Glu119=
ENST00000650978.1:c.197G=
ENST00000260947.8:c.355G= ENSP00000260947.4:p.Glu119=
ENST00000421162.1:c.215+4755G= ENSP00000392245.1:n.215+4755G=
ENST00000455743.5:c.215+4755G= ENSP00000412186.1:n.215+4755G=
ENST00000471787.1:n.260-10797G=
ENST00000613192.1:c.73+17106G= ENSP00000483275.1:n.73+17106G=
ENST00000613374.4:c.158+17106G= ENSP00000484464.1:n.158+17106G=
ENST00000613706.4:c.215+4755G= ENSP00000484976.1:n.215+4755G=
ENST00000617164.4:c.298G= ENSP00000480470.1:p.Glu100=
ENST00000619009.4:c.355G= ENSP00000482293.1:p.Glu119=
ENST00000620057.4:c.355G= ENSP00000481988.1:p.Glu119=
NM_000465.3:c.355G= NP_000456.2:p.Glu119=
NM_001282543.1:c.298G= NP_001269472.1:p.Glu100=
NM_001282545.1:c.215+4755G= NP_001269474.1:n.215+4755G=
NM_001282548.1:c.158+17106G= NP_001269477.1:n.158+17106G=
NM_001282549.1:c.355G= NP_001269478.1:p.Glu119=
NR_104212.1:n.357+4755G=
NR_104215.1:n.301-10797G=
NR_104216.1:n.497G=
XM_011511567.1:c.301G= XP_011509869.1:p.Glu101=
XM_011511568.1:c.355G= XP_011509870.1:p.Glu119=
XM_017004613.1:c.454G= XP_016860102.1:p.Glu152=
XM_017004614.1:c.454G= XP_016860103.1:p.Glu152=
XR_002959322.1:n.545G=
NM_000465.4:c.355G= MANE Select NP_000456.2:p.Glu119=
NM_001282543.2:c.298G= NP_001269472.1:p.Glu100=
NM_001282545.2:c.215+4755G= NP_001269474.1:n.215+4755G=
NM_001282548.2:c.158+17106G= NP_001269477.1:n.158+17106G=
NM_001282549.2:c.355G= NP_001269478.1:p.Glu119=
NR_104212.2:n.329+4755G=
NR_104215.2:n.273-10797G=
NR_104216.2:n.469G=