Canonical Allele Identifier: CA2580618079
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880640_34880642delinsAGG , CM000683.2:g.34880640_34880642delinsAGG GRCh38
NC_000021.8:g.36252937_36252939delinsAGG , CM000683.1:g.36252937_36252939delinsAGG GRCh37
NC_000021.7:g.35174807_35174809delinsAGG NCBI36
NG_011402.2:g.1109070_1109072delinsCCT , LRG_482:g.1109070_1109072delinsCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.423_425delinsCCT MANE Select ENSP00000501943.1:p.Ala142Leu
ENST00000300305.7:c.423_425delinsCCT ENSP00000300305.3:p.Ala142Leu
ENST00000344691.8:c.342_344delinsCCT ENSP00000340690.4:p.Ala115Leu
ENST00000358356.9:c.342_344delinsCCT ENSP00000351123.5:p.Ala115Leu
ENST00000399237.6:c.387_389delinsCCT ENSP00000382182.2:p.Ala130Leu
ENST00000399240.5:c.342_344delinsCCT ENSP00000382184.1:p.Ala115Leu
ENST00000437180.5:c.423_425delinsCCT ENSP00000409227.1:p.Ala142Leu
ENST00000455571.5:c.384_386delinsCCT ENSP00000388189.1:p.Ala129Leu
ENST00000482318.5:c.*13_*15delinsCCT ENSP00000477067.1:n.*13_*15delinsCCT
NM_001001890.2:c.342_344delinsCCT NP_001001890.1:p.Ala115Leu
NM_001122607.1:c.342_344delinsCCT NP_001116079.1:p.Ala115Leu
NM_001754.4:c.423_425delinsCCT , LRG_482t1:c.423_425delinsCCT NP_001745.2:p.Ala142Leu
XM_005261068.3:c.387_389delinsCCT XP_005261125.1:p.Ala130Leu
XM_005261069.3:c.423_425delinsCCT XP_005261126.1:p.Ala142Leu
XM_011529766.1:c.423_425delinsCCT XP_011528068.1:p.Ala142Leu
XM_011529767.1:c.384_386delinsCCT XP_011528069.1:p.Ala129Leu
XM_011529768.1:c.384_386delinsCCT XP_011528070.1:p.Ala129Leu
XM_011529770.1:c.423_425delinsCCT XP_011528072.1:p.Ala142Leu
XR_937576.1:n.602_604delinsCCT
XM_005261069.4:c.423_425delinsCCT XP_005261126.1:p.Ala142Leu
XM_011529766.2:c.423_425delinsCCT XP_011528068.1:p.Ala142Leu
XM_011529767.2:c.384_386delinsCCT XP_011528069.1:p.Ala129Leu
XM_011529768.2:c.384_386delinsCCT XP_011528070.1:p.Ala129Leu
XM_011529770.2:c.423_425delinsCCT XP_011528072.1:p.Ala142Leu
XM_017028487.1:c.270_272delinsCCT XP_016883976.1:p.Ala91Leu
XR_937576.2:n.649_651delinsCCT
NM_001001890.3:c.342_344delinsCCT NP_001001890.1:p.Ala115Leu
NM_001122607.2:c.342_344delinsCCT NP_001116079.1:p.Ala115Leu
NM_001754.5:c.423_425delinsCCT MANE Select NP_001745.2:p.Ala142Leu