Canonical Allele Identifier: CA913189262
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880559dup , CM000683.2:g.34880559dup GRCh38
NC_000021.8:g.36252856dup , CM000683.1:g.36252856dup GRCh37
NC_000021.7:g.35174726dup NCBI36
NG_011402.2:g.1109153dup , LRG_482:g.1109153dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.506dup MANE Select ENSP00000501943.1:p.Gly170ArgfsTer?
ENST00000300305.7:c.506dup ENSP00000300305.3:p.Gly170ArgfsTer?
ENST00000344691.8:c.425dup ENSP00000340690.4:p.Gly143ArgfsTer?
ENST00000358356.9:c.425dup ENSP00000351123.5:p.Gly143ArgfsTer?
ENST00000399237.6:c.470dup ENSP00000382182.2:p.Gly158ArgfsTer?
ENST00000399240.5:c.425dup ENSP00000382184.1:p.Gly143ArgfsTer?
ENST00000437180.5:c.506dup ENSP00000409227.1:p.Gly170ArgfsTer?
ENST00000482318.5:c.*96dup ENSP00000477067.1:n.*96dup
NM_001001890.2:c.425dup NP_001001890.1:p.Gly143ArgfsTer?
NM_001122607.1:c.425dup NP_001116079.1:p.Gly143ArgfsTer?
NM_001754.4:c.506dup , LRG_482t1:c.506dup NP_001745.2:p.Gly170ArgfsTer?
XM_005261068.3:c.470dup XP_005261125.1:p.Gly158ArgfsTer?
XM_005261069.3:c.506dup XP_005261126.1:p.Gly170ArgfsTer?
XM_011529766.1:c.506dup XP_011528068.1:p.Gly170ArgfsTer?
XM_011529767.1:c.467dup XP_011528069.1:p.Gly157ArgfsTer?
XM_011529768.1:c.467dup XP_011528070.1:p.Gly157ArgfsTer?
XM_011529770.1:c.506dup XP_011528072.1:p.Gly170ArgfsTer?
XR_937576.1:n.685dup
XM_005261069.4:c.506dup XP_005261126.1:p.Gly170ArgfsTer?
XM_011529766.2:c.506dup XP_011528068.1:p.Gly170ArgfsTer?
XM_011529767.2:c.467dup XP_011528069.1:p.Gly157ArgfsTer?
XM_011529768.2:c.467dup XP_011528070.1:p.Gly157ArgfsTer?
XM_011529770.2:c.506dup XP_011528072.1:p.Gly170ArgfsTer?
XM_017028487.1:c.353dup XP_016883976.1:p.Gly119ArgfsTer?
XR_937576.2:n.732dup
NM_001001890.3:c.425dup NP_001001890.1:p.Gly143ArgfsTer?
NM_001122607.2:c.425dup NP_001116079.1:p.Gly143ArgfsTer?
NM_001754.5:c.506dup MANE Select NP_001745.2:p.Gly170ArgfsTer?