Canonical Allele Identifier: CA512318794
Gene: RUNX1 HGNC NCBI

Linked Data

COSMIC: COSM25129
MyVariant Identifiers: chr21:g.36253004del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880708del , CM000683.2:g.34880708del GRCh38
NC_000021.8:g.36253005del , CM000683.1:g.36253005del GRCh37
NC_000021.7:g.35174875del NCBI36
NG_011402.2:g.1109005del , LRG_482:g.1109005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.358del MANE Select ENSP00000501943.1:p.Ala120ProfsTer2
ENST00000300305.7:c.358del ENSP00000300305.3:p.Ala120ProfsTer2
ENST00000344691.8:c.277del ENSP00000340690.4:p.Ala93ProfsTer2
ENST00000358356.9:c.277del ENSP00000351123.5:p.Ala93ProfsTer2
ENST00000399237.6:c.322del ENSP00000382182.2:p.Ala108ProfsTer2
ENST00000399240.5:c.277del ENSP00000382184.1:p.Ala93ProfsTer2
ENST00000437180.5:c.358del ENSP00000409227.1:p.Ala120ProfsTer2
ENST00000455571.5:c.319del ENSP00000388189.1:p.Ala107ProfsTer2
ENST00000482318.5:c.65del ENSP00000477067.1:p.Gly22AlafsTer?
NM_001001890.2:c.277del NP_001001890.1:p.Ala93ProfsTer2
NM_001122607.1:c.277del NP_001116079.1:p.Ala93ProfsTer2
NM_001754.4:c.358del , LRG_482t1:c.358del NP_001745.2:p.Ala120ProfsTer2
XM_005261068.3:c.322del XP_005261125.1:p.Ala108ProfsTer2
XM_005261069.3:c.358del XP_005261126.1:p.Ala120ProfsTer2
XM_011529766.1:c.358del XP_011528068.1:p.Ala120ProfsTer2
XM_011529767.1:c.319del XP_011528069.1:p.Ala107ProfsTer2
XM_011529768.1:c.319del XP_011528070.1:p.Ala107ProfsTer2
XM_011529770.1:c.358del XP_011528072.1:p.Ala120ProfsTer2
XR_937576.1:n.537del
XM_005261069.4:c.358del XP_005261126.1:p.Ala120ProfsTer2
XM_011529766.2:c.358del XP_011528068.1:p.Ala120ProfsTer2
XM_011529767.2:c.319del XP_011528069.1:p.Ala107ProfsTer2
XM_011529768.2:c.319del XP_011528070.1:p.Ala107ProfsTer2
XM_011529770.2:c.358del XP_011528072.1:p.Ala120ProfsTer2
XM_017028487.1:c.205del XP_016883976.1:p.Ala69ProfsTer2
XR_937576.2:n.584del
NM_001001890.3:c.277del NP_001001890.1:p.Ala93ProfsTer2
NM_001122607.2:c.277del NP_001116079.1:p.Ala93ProfsTer2
NM_001754.5:c.358del MANE Select NP_001745.2:p.Ala120ProfsTer2