Canonical Allele Identifier: CA1327071186
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780962G= , CM000664.2:g.214780962G= GRCh38
NC_000002.11:g.215645686G= , CM000664.1:g.215645686G= GRCh37
NC_000002.10:g.215353931G= NCBI36
NG_012047.2:g.33743C=
NG_012047.3:g.33750C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.912C= MANE Select ENSP00000260947.4:p.Cys304=
ENST00000421162.2:c.215+16099C= ENSP00000392245.2:n.215+16099C=
ENST00000613192.2:c.158+28450C= ENSP00000483275.2:n.158+28450C=
ENST00000613374.5:c.159-28407C= ENSP00000484464.1:n.159-28407C=
ENST00000613706.5:c.906+6C= ENSP00000484976.2:n.906+6C=
ENST00000617164.5:c.855C= ENSP00000480470.1:p.Cys285=
ENST00000619009.5:c.364+11335C= ENSP00000482293.1:n.364+11335C=
ENST00000650978.1:c.754C=
ENST00000260947.8:c.912C= ENSP00000260947.4:p.Cys304=
ENST00000421162.1:c.215+16099C= ENSP00000392245.1:n.215+16099C=
ENST00000455743.5:c.*532C= ENSP00000412186.1:n.*532C=
ENST00000471787.1:n.807C=
ENST00000613192.1:c.73+28450C= ENSP00000483275.1:n.73+28450C=
ENST00000613374.4:c.159-28407C= ENSP00000484464.1:n.159-28407C=
ENST00000613706.4:c.215+16099C= ENSP00000484976.1:n.215+16099C=
ENST00000617164.4:c.855C= ENSP00000480470.1:p.Cys285=
ENST00000619009.4:c.364+11335C= ENSP00000482293.1:n.364+11335C=
ENST00000620057.4:c.364+11335C= ENSP00000481988.1:n.364+11335C=
NM_000465.3:c.912C= NP_000456.2:p.Cys304=
NM_001282543.1:c.855C= NP_001269472.1:p.Cys285=
NM_001282545.1:c.215+16099C= NP_001269474.1:n.215+16099C=
NM_001282548.1:c.159-28407C= NP_001269477.1:n.159-28407C=
NM_001282549.1:c.364+11335C= NP_001269478.1:n.364+11335C=
NR_104212.1:n.905C=
NR_104215.1:n.848C=
NR_104216.1:n.506+11335C=
XM_011511567.1:c.858C= XP_011509869.1:p.Cys286=
XM_011511568.1:c.912C= XP_011509870.1:p.Cys304=
XM_017004613.1:c.1011C= XP_016860102.1:p.Cys337=
XM_017004614.1:c.1011C= XP_016860103.1:p.Cys337=
XR_002959322.1:n.1102C=
NM_000465.4:c.912C= MANE Select NP_000456.2:p.Cys304=
NM_001282543.2:c.855C= NP_001269472.1:p.Cys285=
NM_001282545.2:c.215+16099C= NP_001269474.1:n.215+16099C=
NM_001282548.2:c.159-28407C= NP_001269477.1:n.159-28407C=
NM_001282549.2:c.364+11335C= NP_001269478.1:n.364+11335C=
NR_104212.2:n.877C=
NR_104215.2:n.820C=
NR_104216.2:n.478+11335C=