Canonical Allele Identifier: CA2586965586
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780948_214780949del , CM000664.2:g.214780948_214780949del GRCh38
NC_000002.11:g.215645672_215645673del , CM000664.1:g.215645672_215645673del GRCh37
NC_000002.10:g.215353917_215353918del NCBI36
NG_012047.2:g.33757_33758del
NG_012047.3:g.33764_33765del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.926_927del MANE Select ENSP00000260947.4:p.Thr309IlefsTer2
ENST00000421162.2:c.215+16113_215+16114del ENSP00000392245.2:n.215+16113_215+16114del
ENST00000613192.2:c.158+28464_158+28465del ENSP00000483275.2:n.158+28464_158+28465del
ENST00000613374.5:c.159-28393_159-28392del ENSP00000484464.1:n.159-28393_159-28392del
ENST00000613706.5:c.906+20_906+21del ENSP00000484976.2:n.906+20_906+21del
ENST00000617164.5:c.869_870del ENSP00000480470.1:p.Thr290IlefsTer2
ENST00000619009.5:c.364+11349_364+11350del ENSP00000482293.1:n.364+11349_364+11350del
ENST00000650978.1:c.768_769del
ENST00000260947.8:c.926_927del ENSP00000260947.4:p.Thr309IlefsTer2
ENST00000421162.1:c.215+16113_215+16114del ENSP00000392245.1:n.215+16113_215+16114del
ENST00000455743.5:c.*546_*547del ENSP00000412186.1:n.*546_*547del
ENST00000471787.1:n.821_822del
ENST00000613192.1:c.73+28464_73+28465del ENSP00000483275.1:n.73+28464_73+28465del
ENST00000613374.4:c.159-28393_159-28392del ENSP00000484464.1:n.159-28393_159-28392del
ENST00000613706.4:c.215+16113_215+16114del ENSP00000484976.1:n.215+16113_215+16114del
ENST00000617164.4:c.869_870del ENSP00000480470.1:p.Thr290IlefsTer2
ENST00000619009.4:c.364+11349_364+11350del ENSP00000482293.1:n.364+11349_364+11350del
ENST00000620057.4:c.364+11349_364+11350del ENSP00000481988.1:n.364+11349_364+11350del
NM_000465.3:c.926_927del NP_000456.2:p.Thr309IlefsTer2
NM_001282543.1:c.869_870del NP_001269472.1:p.Thr290IlefsTer2
NM_001282545.1:c.215+16113_215+16114del NP_001269474.1:n.215+16113_215+16114del
NM_001282548.1:c.159-28393_159-28392del NP_001269477.1:n.159-28393_159-28392del
NM_001282549.1:c.364+11349_364+11350del NP_001269478.1:n.364+11349_364+11350del
NR_104212.1:n.919_920del
NR_104215.1:n.862_863del
NR_104216.1:n.506+11349_506+11350del
XM_011511567.1:c.872_873del XP_011509869.1:p.Thr291IlefsTer2
XM_011511568.1:c.926_927del XP_011509870.1:p.Thr309IlefsTer2
XM_017004613.1:c.1025_1026del XP_016860102.1:p.Thr342IlefsTer2
XM_017004614.1:c.1025_1026del XP_016860103.1:p.Thr342IlefsTer2
XR_002959322.1:n.1116_1117del
NM_000465.4:c.926_927del MANE Select NP_000456.2:p.Thr309IlefsTer2
NM_001282543.2:c.869_870del NP_001269472.1:p.Thr290IlefsTer2
NM_001282545.2:c.215+16113_215+16114del NP_001269474.1:n.215+16113_215+16114del
NM_001282548.2:c.159-28393_159-28392del NP_001269477.1:n.159-28393_159-28392del
NM_001282549.2:c.364+11349_364+11350del NP_001269478.1:n.364+11349_364+11350del
NR_104212.2:n.891_892del
NR_104215.2:n.834_835del
NR_104216.2:n.478+11349_478+11350del