Canonical Allele Identifier: CA645607374
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2759299
ClinVar RCV Id: RCV003515226

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880642del , CM000683.2:g.34880642del GRCh38
NC_000021.8:g.36252939del , CM000683.1:g.36252939del GRCh37
NC_000021.7:g.35174809del NCBI36
NG_011402.2:g.1109071del , LRG_482:g.1109071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.424del MANE Select ENSP00000501943.1:p.Ala142LeufsTer3
ENST00000300305.7:c.424del ENSP00000300305.3:p.Ala142LeufsTer3
ENST00000344691.8:c.343del ENSP00000340690.4:p.Ala115LeufsTer3
ENST00000358356.9:c.343del ENSP00000351123.5:p.Ala115LeufsTer3
ENST00000399237.6:c.388del ENSP00000382182.2:p.Ala130LeufsTer3
ENST00000399240.5:c.343del ENSP00000382184.1:p.Ala115LeufsTer3
ENST00000437180.5:c.424del ENSP00000409227.1:p.Ala142LeufsTer3
ENST00000455571.5:c.385del ENSP00000388189.1:p.Ala129LeufsTer3
ENST00000482318.5:c.*14del ENSP00000477067.1:n.*14del
NM_001001890.2:c.343del NP_001001890.1:p.Ala115LeufsTer3
NM_001122607.1:c.343del NP_001116079.1:p.Ala115LeufsTer3
NM_001754.4:c.424del , LRG_482t1:c.424del NP_001745.2:p.Ala142LeufsTer3
XM_005261068.3:c.388del XP_005261125.1:p.Ala130LeufsTer3
XM_005261069.3:c.424del XP_005261126.1:p.Ala142LeufsTer3
XM_011529766.1:c.424del XP_011528068.1:p.Ala142LeufsTer3
XM_011529767.1:c.385del XP_011528069.1:p.Ala129LeufsTer3
XM_011529768.1:c.385del XP_011528070.1:p.Ala129LeufsTer3
XM_011529770.1:c.424del XP_011528072.1:p.Ala142LeufsTer3
XR_937576.1:n.603del
XM_005261069.4:c.424del XP_005261126.1:p.Ala142LeufsTer3
XM_011529766.2:c.424del XP_011528068.1:p.Ala142LeufsTer3
XM_011529767.2:c.385del XP_011528069.1:p.Ala129LeufsTer3
XM_011529768.2:c.385del XP_011528070.1:p.Ala129LeufsTer3
XM_011529770.2:c.424del XP_011528072.1:p.Ala142LeufsTer3
XM_017028487.1:c.271del XP_016883976.1:p.Ala91LeufsTer3
XR_937576.2:n.650del
NM_001001890.3:c.343del NP_001001890.1:p.Ala115LeufsTer3
NM_001122607.2:c.343del NP_001116079.1:p.Ala115LeufsTer3
NM_001754.5:c.424del MANE Select NP_001745.2:p.Ala142LeufsTer3