Canonical Allele Identifier: CA2695201453
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2635335
ClinVar RCV Id: RCV003393038

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886883del , CM000683.2:g.34886883del GRCh38
NC_000021.8:g.36259180del , CM000683.1:g.36259180del GRCh37
NC_000021.7:g.35181050del NCBI36
NG_011402.2:g.1102829del , LRG_482:g.1102829del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.311del MANE Select ENSP00000501943.1:p.Thr104SerfsTer18
ENST00000300305.7:c.311del ENSP00000300305.3:p.Thr104SerfsTer18
ENST00000344691.8:c.230del ENSP00000340690.4:p.Thr77SerfsTer18
ENST00000358356.9:c.230del ENSP00000351123.5:p.Thr77SerfsTer18
ENST00000399237.6:c.275del ENSP00000382182.2:p.Thr92SerfsTer18
ENST00000399240.5:c.230del ENSP00000382184.1:p.Thr77SerfsTer18
ENST00000437180.5:c.311del ENSP00000409227.1:p.Thr104SerfsTer18
ENST00000455571.5:c.272del ENSP00000388189.1:p.Thr91SerfsTer18
ENST00000482318.5:c.59-6170del ENSP00000477067.1:n.59-6170del
NM_001001890.2:c.230del NP_001001890.1:p.Thr77SerfsTer18
NM_001122607.1:c.230del NP_001116079.1:p.Thr77SerfsTer18
NM_001754.4:c.311del , LRG_482t1:c.311del NP_001745.2:p.Thr104SerfsTer18
XM_005261068.3:c.275del XP_005261125.1:p.Thr92SerfsTer18
XM_005261069.3:c.311del XP_005261126.1:p.Thr104SerfsTer18
XM_011529766.1:c.311del XP_011528068.1:p.Thr104SerfsTer18
XM_011529767.1:c.272del XP_011528069.1:p.Thr91SerfsTer18
XM_011529768.1:c.272del XP_011528070.1:p.Thr91SerfsTer18
XM_011529770.1:c.311del XP_011528072.1:p.Thr104SerfsTer18
XR_937576.1:n.490del
XM_005261069.4:c.311del XP_005261126.1:p.Thr104SerfsTer18
XM_011529766.2:c.311del XP_011528068.1:p.Thr104SerfsTer18
XM_011529767.2:c.272del XP_011528069.1:p.Thr91SerfsTer18
XM_011529768.2:c.272del XP_011528070.1:p.Thr91SerfsTer18
XM_011529770.2:c.311del XP_011528072.1:p.Thr104SerfsTer18
XM_017028487.1:c.158del XP_016883976.1:p.Thr53SerfsTer18
XR_937576.2:n.537del
NM_001001890.3:c.230del NP_001001890.1:p.Thr77SerfsTer18
NM_001122607.2:c.230del NP_001116079.1:p.Thr77SerfsTer18
NM_001754.5:c.311del MANE Select NP_001745.2:p.Thr104SerfsTer18