Canonical Allele Identifier: CA3249309973
Community Standard Title: NM_000465.4(BARD1):c.240_242del (p.Thr81del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792419_214792421del , CM000664.2:g.214792419_214792421del GRCh38
NC_000002.11:g.215657143_215657145del , CM000664.1:g.215657143_215657145del GRCh37
NC_000002.10:g.215365388_215365390del NCBI36
NG_012047.2:g.22284_22286del
NG_012047.3:g.22291_22293del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.240_242del MANE Select NP_000456.2:p.Thr81del
ENST00000260947.9:c.240_242del MANE Select ENSP00000260947.4:p.Thr81del
NM_000465.3:c.240_242del NP_000456.2:p.Thr81del
NM_001282543.1:c.183_185del NP_001269472.1:p.Thr62del
NM_001282543.2:c.183_185del NP_001269472.1:p.Thr62del
NM_001282545.1:c.215+4640_215+4642del NP_001269474.1:n.215+4640_215+4642del
NM_001282545.2:c.215+4640_215+4642del NP_001269474.1:n.215+4640_215+4642del
NM_001282548.1:c.158+16991_158+16993del NP_001269477.1:n.158+16991_158+16993del
NM_001282548.2:c.158+16991_158+16993del NP_001269477.1:n.158+16991_158+16993del
NM_001282549.1:c.240_242del NP_001269478.1:p.Thr81del
NM_001282549.2:c.240_242del NP_001269478.1:p.Thr81del
NR_104212.1:n.357+4640_357+4642del
NR_104212.2:n.329+4640_329+4642del
NR_104215.1:n.301-10912_301-10910del
NR_104215.2:n.273-10912_273-10910del
NR_104216.1:n.382_384del
NR_104216.2:n.354_356del
ENST00000260947.8:c.240_242del ENSP00000260947.4:p.Thr81del
ENST00000421162.1:c.215+4640_215+4642del ENSP00000392245.1:n.215+4640_215+4642del
ENST00000421162.2:c.215+4640_215+4642del ENSP00000392245.2:n.215+4640_215+4642del
ENST00000455743.5:c.215+4640_215+4642del ENSP00000412186.1:n.215+4640_215+4642del
ENST00000471787.1:n.260-10912_260-10910del
ENST00000613192.1:c.73+16991_73+16993del ENSP00000483275.1:n.73+16991_73+16993del
ENST00000613192.2:c.158+16991_158+16993del ENSP00000483275.2:n.158+16991_158+16993del
ENST00000613374.4:c.158+16991_158+16993del ENSP00000484464.1:n.158+16991_158+16993del
ENST00000613374.5:c.158+16991_158+16993del ENSP00000484464.1:n.158+16991_158+16993del
ENST00000613706.4:c.215+4640_215+4642del ENSP00000484976.1:n.215+4640_215+4642del
ENST00000613706.5:c.240_242del ENSP00000484976.2:p.Thr81del
ENST00000617164.4:c.183_185del ENSP00000480470.1:p.Thr62del
ENST00000617164.5:c.183_185del ENSP00000480470.1:p.Thr62del
ENST00000619009.4:c.240_242del ENSP00000482293.1:p.Thr81del
ENST00000619009.5:c.240_242del ENSP00000482293.1:p.Thr81del
ENST00000620057.4:c.240_242del ENSP00000481988.1:p.Thr81del
ENST00000650978.1:c.82_84del
XM_011511567.1:c.186_188del XP_011509869.1:p.Thr63del
XM_011511568.1:c.240_242del XP_011509870.1:p.Thr81del
XM_017004613.1:c.339_341del XP_016860102.1:p.Thr114del
XM_017004614.1:c.339_341del XP_016860103.1:p.Thr114del
XR_002959322.1:n.430_432del