Canonical Allele Identifier: CA1139533020
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880558del , CM000683.2:g.34880558del GRCh38
NC_000021.8:g.36252855del , CM000683.1:g.36252855del GRCh37
NC_000021.7:g.35174725del NCBI36
NG_011402.2:g.1109154del , LRG_482:g.1109154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.507del MANE Select ENSP00000501943.1:p.Ser172AlafsTer4
ENST00000300305.7:c.507del ENSP00000300305.3:p.Ser172AlafsTer4
ENST00000344691.8:c.426del ENSP00000340690.4:p.Ser145AlafsTer4
ENST00000358356.9:c.426del ENSP00000351123.5:p.Ser145AlafsTer4
ENST00000399237.6:c.471del ENSP00000382182.2:p.Ser160AlafsTer4
ENST00000399240.5:c.426del ENSP00000382184.1:p.Ser145AlafsTer4
ENST00000437180.5:c.507del ENSP00000409227.1:p.Ser172AlafsTer4
ENST00000482318.5:c.*97del ENSP00000477067.1:n.*97del
NM_001001890.2:c.426del NP_001001890.1:p.Ser145AlafsTer4
NM_001122607.1:c.426del NP_001116079.1:p.Ser145AlafsTer4
NM_001754.4:c.507del , LRG_482t1:c.507del NP_001745.2:p.Ser172AlafsTer4
XM_005261068.3:c.471del XP_005261125.1:p.Ser160AlafsTer4
XM_005261069.3:c.507del XP_005261126.1:p.Ser172AlafsTer4
XM_011529766.1:c.507del XP_011528068.1:p.Ser172AlafsTer4
XM_011529767.1:c.468del XP_011528069.1:p.Ser159AlafsTer4
XM_011529768.1:c.468del XP_011528070.1:p.Ser159AlafsTer4
XM_011529770.1:c.507del XP_011528072.1:p.Ser172AlafsTer4
XR_937576.1:n.686del
XM_005261069.4:c.507del XP_005261126.1:p.Ser172AlafsTer4
XM_011529766.2:c.507del XP_011528068.1:p.Ser172AlafsTer4
XM_011529767.2:c.468del XP_011528069.1:p.Ser159AlafsTer4
XM_011529768.2:c.468del XP_011528070.1:p.Ser159AlafsTer4
XM_011529770.2:c.507del XP_011528072.1:p.Ser172AlafsTer4
XM_017028487.1:c.354del XP_016883976.1:p.Ser121AlafsTer4
XR_937576.2:n.733del
NM_001001890.3:c.426del NP_001001890.1:p.Ser145AlafsTer4
NM_001122607.2:c.426del NP_001116079.1:p.Ser145AlafsTer4
NM_001754.5:c.507del MANE Select NP_001745.2:p.Ser172AlafsTer4