Canonical Allele Identifier: CA913189261
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880606del , CM000683.2:g.34880606del GRCh38
NC_000021.8:g.36252903del , CM000683.1:g.36252903del GRCh37
NC_000021.7:g.35174773del NCBI36
NG_011402.2:g.1109107del , LRG_482:g.1109107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.460del MANE Select ENSP00000501943.1:p.Gln154ArgfsTer22
ENST00000300305.7:c.460del ENSP00000300305.3:p.Gln154ArgfsTer22
ENST00000344691.8:c.379del ENSP00000340690.4:p.Gln127ArgfsTer22
ENST00000358356.9:c.379del ENSP00000351123.5:p.Gln127ArgfsTer22
ENST00000399237.6:c.424del ENSP00000382182.2:p.Gln142ArgfsTer22
ENST00000399240.5:c.379del ENSP00000382184.1:p.Gln127ArgfsTer22
ENST00000437180.5:c.460del ENSP00000409227.1:p.Gln154ArgfsTer22
ENST00000482318.5:c.*50del ENSP00000477067.1:n.*50del
NM_001001890.2:c.379del NP_001001890.1:p.Gln127ArgfsTer22
NM_001122607.1:c.379del NP_001116079.1:p.Gln127ArgfsTer22
NM_001754.4:c.460del , LRG_482t1:c.460del NP_001745.2:p.Gln154ArgfsTer22
XM_005261068.3:c.424del XP_005261125.1:p.Gln142ArgfsTer22
XM_005261069.3:c.460del XP_005261126.1:p.Gln154ArgfsTer22
XM_011529766.1:c.460del XP_011528068.1:p.Gln154ArgfsTer22
XM_011529767.1:c.421del XP_011528069.1:p.Gln141ArgfsTer22
XM_011529768.1:c.421del XP_011528070.1:p.Gln141ArgfsTer22
XM_011529770.1:c.460del XP_011528072.1:p.Gln154ArgfsTer22
XR_937576.1:n.639del
XM_005261069.4:c.460del XP_005261126.1:p.Gln154ArgfsTer22
XM_011529766.2:c.460del XP_011528068.1:p.Gln154ArgfsTer22
XM_011529767.2:c.421del XP_011528069.1:p.Gln141ArgfsTer22
XM_011529768.2:c.421del XP_011528070.1:p.Gln141ArgfsTer22
XM_011529770.2:c.460del XP_011528072.1:p.Gln154ArgfsTer22
XM_017028487.1:c.307del XP_016883976.1:p.Gln103ArgfsTer22
XR_937576.2:n.686del
NM_001001890.3:c.379del NP_001001890.1:p.Gln127ArgfsTer22
NM_001122607.2:c.379del NP_001116079.1:p.Gln127ArgfsTer22
NM_001754.5:c.460del MANE Select NP_001745.2:p.Gln154ArgfsTer22