Canonical Allele Identifier: CA2586965587
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780977_214780978insC , CM000664.2:g.214780977_214780978insC GRCh38
NC_000002.11:g.215645701_215645702insC , CM000664.1:g.215645701_215645702insC GRCh37
NC_000002.10:g.215353946_215353947insC NCBI36
NG_012047.2:g.33727_33728insG
NG_012047.3:g.33734_33735insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.896_897insG MANE Select ENSP00000260947.4:p.Pro300SerfsTer2
ENST00000421162.2:c.215+16083_215+16084insG ENSP00000392245.2:n.215+16083_215+16084insG
ENST00000613192.2:c.158+28434_158+28435insG ENSP00000483275.2:n.158+28434_158+28435insG
ENST00000613374.5:c.159-28423_159-28422insG ENSP00000484464.1:n.159-28423_159-28422insG
ENST00000613706.5:c.896_897insG ENSP00000484976.2:p.Pro300SerfsTer2
ENST00000617164.5:c.839_840insG ENSP00000480470.1:p.Pro281SerfsTer2
ENST00000619009.5:c.364+11319_364+11320insG ENSP00000482293.1:n.364+11319_364+11320insG
ENST00000650978.1:c.738_739insG
ENST00000260947.8:c.896_897insG ENSP00000260947.4:p.Pro300SerfsTer2
ENST00000421162.1:c.215+16083_215+16084insG ENSP00000392245.1:n.215+16083_215+16084insG
ENST00000455743.5:c.*516_*517insG ENSP00000412186.1:n.*516_*517insG
ENST00000471787.1:n.791_792insG
ENST00000613192.1:c.73+28434_73+28435insG ENSP00000483275.1:n.73+28434_73+28435insG
ENST00000613374.4:c.159-28423_159-28422insG ENSP00000484464.1:n.159-28423_159-28422insG
ENST00000613706.4:c.215+16083_215+16084insG ENSP00000484976.1:n.215+16083_215+16084insG
ENST00000617164.4:c.839_840insG ENSP00000480470.1:p.Pro281SerfsTer2
ENST00000619009.4:c.364+11319_364+11320insG ENSP00000482293.1:n.364+11319_364+11320insG
ENST00000620057.4:c.364+11319_364+11320insG ENSP00000481988.1:n.364+11319_364+11320insG
NM_000465.3:c.896_897insG NP_000456.2:p.Pro300SerfsTer2
NM_001282543.1:c.839_840insG NP_001269472.1:p.Pro281SerfsTer2
NM_001282545.1:c.215+16083_215+16084insG NP_001269474.1:n.215+16083_215+16084insG
NM_001282548.1:c.159-28423_159-28422insG NP_001269477.1:n.159-28423_159-28422insG
NM_001282549.1:c.364+11319_364+11320insG NP_001269478.1:n.364+11319_364+11320insG
NR_104212.1:n.889_890insG
NR_104215.1:n.832_833insG
NR_104216.1:n.506+11319_506+11320insG
XM_011511567.1:c.842_843insG XP_011509869.1:p.Pro282SerfsTer2
XM_011511568.1:c.896_897insG XP_011509870.1:p.Pro300SerfsTer2
XM_017004613.1:c.995_996insG XP_016860102.1:p.Pro333SerfsTer2
XM_017004614.1:c.995_996insG XP_016860103.1:p.Pro333SerfsTer2
XR_002959322.1:n.1086_1087insG
NM_000465.4:c.896_897insG MANE Select NP_000456.2:p.Pro300SerfsTer2
NM_001282543.2:c.839_840insG NP_001269472.1:p.Pro281SerfsTer2
NM_001282545.2:c.215+16083_215+16084insG NP_001269474.1:n.215+16083_215+16084insG
NM_001282548.2:c.159-28423_159-28422insG NP_001269477.1:n.159-28423_159-28422insG
NM_001282549.2:c.364+11319_364+11320insG NP_001269478.1:n.364+11319_364+11320insG
NR_104212.2:n.861_862insG
NR_104215.2:n.804_805insG
NR_104216.2:n.478+11319_478+11320insG