Canonical Allele Identifier: CA512318709
Gene: RUNX1 HGNC NCBI

Linked Data

COSMIC: COSM42108
MyVariant Identifiers: chr21:g.36252908del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880611del , CM000683.2:g.34880611del GRCh38
NC_000021.8:g.36252908del , CM000683.1:g.36252908del GRCh37
NC_000021.7:g.35174778del NCBI36
NG_011402.2:g.1109102del , LRG_482:g.1109102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.455del MANE Select ENSP00000501943.1:p.Lys152ArgfsTer24
ENST00000300305.7:c.455del ENSP00000300305.3:p.Lys152ArgfsTer24
ENST00000344691.8:c.374del ENSP00000340690.4:p.Lys125ArgfsTer24
ENST00000358356.9:c.374del ENSP00000351123.5:p.Lys125ArgfsTer24
ENST00000399237.6:c.419del ENSP00000382182.2:p.Lys140ArgfsTer24
ENST00000399240.5:c.374del ENSP00000382184.1:p.Lys125ArgfsTer24
ENST00000437180.5:c.455del ENSP00000409227.1:p.Lys152ArgfsTer24
ENST00000455571.5:c.416del ENSP00000388189.1:p.Lys139ArgfsTer?
ENST00000482318.5:c.*45del ENSP00000477067.1:n.*45del
NM_001001890.2:c.374del NP_001001890.1:p.Lys125ArgfsTer24
NM_001122607.1:c.374del NP_001116079.1:p.Lys125ArgfsTer24
NM_001754.4:c.455del , LRG_482t1:c.455del NP_001745.2:p.Lys152ArgfsTer24
XM_005261068.3:c.419del XP_005261125.1:p.Lys140ArgfsTer24
XM_005261069.3:c.455del XP_005261126.1:p.Lys152ArgfsTer24
XM_011529766.1:c.455del XP_011528068.1:p.Lys152ArgfsTer24
XM_011529767.1:c.416del XP_011528069.1:p.Lys139ArgfsTer24
XM_011529768.1:c.416del XP_011528070.1:p.Lys139ArgfsTer24
XM_011529770.1:c.455del XP_011528072.1:p.Lys152ArgfsTer24
XR_937576.1:n.634del
XM_005261069.4:c.455del XP_005261126.1:p.Lys152ArgfsTer24
XM_011529766.2:c.455del XP_011528068.1:p.Lys152ArgfsTer24
XM_011529767.2:c.416del XP_011528069.1:p.Lys139ArgfsTer24
XM_011529768.2:c.416del XP_011528070.1:p.Lys139ArgfsTer24
XM_011529770.2:c.455del XP_011528072.1:p.Lys152ArgfsTer24
XM_017028487.1:c.302del XP_016883976.1:p.Lys101ArgfsTer24
XR_937576.2:n.681del
NM_001001890.3:c.374del NP_001001890.1:p.Lys125ArgfsTer24
NM_001122607.2:c.374del NP_001116079.1:p.Lys125ArgfsTer24
NM_001754.5:c.455del MANE Select NP_001745.2:p.Lys152ArgfsTer24