Canonical Allele Identifier: CA1139655378
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887028_34887076del , CM000683.2:g.34887028_34887076del GRCh38
NC_000021.8:g.36259325_36259373del , CM000683.1:g.36259325_36259373del GRCh37
NC_000021.7:g.35181195_35181243del NCBI36
NG_011402.2:g.1102637_1102685del , LRG_482:g.1102637_1102685del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.119_167del MANE Select ENSP00000501943.1:p.Phe40CysfsTer16
ENST00000300305.7:c.119_167del ENSP00000300305.3:p.Phe40CysfsTer16
ENST00000344691.8:c.38_86del ENSP00000340690.4:p.Phe13CysfsTer16
ENST00000358356.9:c.38_86del ENSP00000351123.5:p.Phe13CysfsTer16
ENST00000399237.6:c.83_131del ENSP00000382182.2:p.Phe28CysfsTer16
ENST00000399240.5:c.38_86del ENSP00000382184.1:p.Phe13CysfsTer16
ENST00000437180.5:c.119_167del ENSP00000409227.1:p.Phe40CysfsTer16
ENST00000455571.5:c.80_128del ENSP00000388189.1:p.Phe27CysfsTer16
ENST00000482318.5:c.59-6362_59-6314del ENSP00000477067.1:n.59-6362_59-6314del
NM_001001890.2:c.38_86del NP_001001890.1:p.Phe13CysfsTer16
NM_001122607.1:c.38_86del NP_001116079.1:p.Phe13CysfsTer16
NM_001754.4:c.119_167del , LRG_482t1:c.119_167del NP_001745.2:p.Phe40CysfsTer16
XM_005261068.3:c.83_131del XP_005261125.1:p.Phe28CysfsTer16
XM_005261069.3:c.119_167del XP_005261126.1:p.Phe40CysfsTer16
XM_011529766.1:c.119_167del XP_011528068.1:p.Phe40CysfsTer16
XM_011529767.1:c.80_128del XP_011528069.1:p.Phe27CysfsTer16
XM_011529768.1:c.80_128del XP_011528070.1:p.Phe27CysfsTer16
XM_011529770.1:c.119_167del XP_011528072.1:p.Phe40CysfsTer16
XR_937576.1:n.298_346del
XM_005261069.4:c.119_167del XP_005261126.1:p.Phe40CysfsTer16
XM_011529766.2:c.119_167del XP_011528068.1:p.Phe40CysfsTer16
XM_011529767.2:c.80_128del XP_011528069.1:p.Phe27CysfsTer16
XM_011529768.2:c.80_128del XP_011528070.1:p.Phe27CysfsTer16
XM_011529770.2:c.119_167del XP_011528072.1:p.Phe40CysfsTer16
XM_017028487.1:c.-35_14del
XR_937576.2:n.345_393del
NM_001001890.3:c.38_86del NP_001001890.1:p.Phe13CysfsTer16
NM_001122607.2:c.38_86del NP_001116079.1:p.Phe13CysfsTer16
NM_001754.5:c.119_167del MANE Select NP_001745.2:p.Phe40CysfsTer16