Canonical Allele Identifier: CA1327071150
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780909C= , CM000664.2:g.214780909C= GRCh38
NC_000002.11:g.215645633C= , CM000664.1:g.215645633C= GRCh37
NC_000002.10:g.215353878C= NCBI36
NG_012047.2:g.33796G=
NG_012047.3:g.33803G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.965G= MANE Select ENSP00000260947.4:p.Arg322=
ENST00000421162.2:c.215+16152G= ENSP00000392245.2:n.215+16152G=
ENST00000613192.2:c.158+28503G= ENSP00000483275.2:n.158+28503G=
ENST00000613374.5:c.159-28354G= ENSP00000484464.1:n.159-28354G=
ENST00000613706.5:c.906+59G= ENSP00000484976.2:n.906+59G=
ENST00000617164.5:c.908G= ENSP00000480470.1:p.Arg303=
ENST00000619009.5:c.364+11388G= ENSP00000482293.1:n.364+11388G=
ENST00000650978.1:c.807G=
ENST00000260947.8:c.965G= ENSP00000260947.4:p.Arg322=
ENST00000421162.1:c.215+16152G= ENSP00000392245.1:n.215+16152G=
ENST00000455743.5:c.*585G= ENSP00000412186.1:n.*585G=
ENST00000471787.1:n.860G=
ENST00000613192.1:c.73+28503G= ENSP00000483275.1:n.73+28503G=
ENST00000613374.4:c.159-28354G= ENSP00000484464.1:n.159-28354G=
ENST00000613706.4:c.215+16152G= ENSP00000484976.1:n.215+16152G=
ENST00000617164.4:c.908G= ENSP00000480470.1:p.Arg303=
ENST00000619009.4:c.364+11388G= ENSP00000482293.1:n.364+11388G=
ENST00000620057.4:c.364+11388G= ENSP00000481988.1:n.364+11388G=
NM_000465.3:c.965G= NP_000456.2:p.Arg322=
NM_001282543.1:c.908G= NP_001269472.1:p.Arg303=
NM_001282545.1:c.215+16152G= NP_001269474.1:n.215+16152G=
NM_001282548.1:c.159-28354G= NP_001269477.1:n.159-28354G=
NM_001282549.1:c.364+11388G= NP_001269478.1:n.364+11388G=
NR_104212.1:n.958G=
NR_104215.1:n.901G=
NR_104216.1:n.506+11388G=
XM_011511567.1:c.911G= XP_011509869.1:p.Arg304=
XM_011511568.1:c.965G= XP_011509870.1:p.Arg322=
XM_017004613.1:c.1064G= XP_016860102.1:p.Arg355=
XM_017004614.1:c.1064G= XP_016860103.1:p.Arg355=
XR_002959322.1:n.1155G=
NM_000465.4:c.965G= MANE Select NP_000456.2:p.Arg322=
NM_001282543.2:c.908G= NP_001269472.1:p.Arg303=
NM_001282545.2:c.215+16152G= NP_001269474.1:n.215+16152G=
NM_001282548.2:c.159-28354G= NP_001269477.1:n.159-28354G=
NM_001282549.2:c.364+11388G= NP_001269478.1:n.364+11388G=
NR_104212.2:n.930G=
NR_104215.2:n.873G=
NR_104216.2:n.478+11388G=