Canonical Allele Identifier: CA512318740
Gene: RUNX1 HGNC NCBI

Linked Data

COSMIC: COSM24775
MyVariant Identifiers: chr21:g.36252940del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880643del , CM000683.2:g.34880643del GRCh38
NC_000021.8:g.36252940del , CM000683.1:g.36252940del GRCh37
NC_000021.7:g.35174810del NCBI36
NG_011402.2:g.1109069del , LRG_482:g.1109069del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.422del MANE Select ENSP00000501943.1:p.Ser141TrpfsTer4
ENST00000300305.7:c.422del ENSP00000300305.3:p.Ser141TrpfsTer4
ENST00000344691.8:c.341del ENSP00000340690.4:p.Ser114TrpfsTer4
ENST00000358356.9:c.341del ENSP00000351123.5:p.Ser114TrpfsTer4
ENST00000399237.6:c.386del ENSP00000382182.2:p.Ser129TrpfsTer4
ENST00000399240.5:c.341del ENSP00000382184.1:p.Ser114TrpfsTer4
ENST00000437180.5:c.422del ENSP00000409227.1:p.Ser141TrpfsTer4
ENST00000455571.5:c.383del ENSP00000388189.1:p.Ser128TrpfsTer4
ENST00000482318.5:c.*12del ENSP00000477067.1:n.*12del
NM_001001890.2:c.341del NP_001001890.1:p.Ser114TrpfsTer4
NM_001122607.1:c.341del NP_001116079.1:p.Ser114TrpfsTer4
NM_001754.4:c.422del , LRG_482t1:c.422del NP_001745.2:p.Ser141TrpfsTer4
XM_005261068.3:c.386del XP_005261125.1:p.Ser129TrpfsTer4
XM_005261069.3:c.422del XP_005261126.1:p.Ser141TrpfsTer4
XM_011529766.1:c.422del XP_011528068.1:p.Ser141TrpfsTer4
XM_011529767.1:c.383del XP_011528069.1:p.Ser128TrpfsTer4
XM_011529768.1:c.383del XP_011528070.1:p.Ser128TrpfsTer4
XM_011529770.1:c.422del XP_011528072.1:p.Ser141TrpfsTer4
XR_937576.1:n.601del
XM_005261069.4:c.422del XP_005261126.1:p.Ser141TrpfsTer4
XM_011529766.2:c.422del XP_011528068.1:p.Ser141TrpfsTer4
XM_011529767.2:c.383del XP_011528069.1:p.Ser128TrpfsTer4
XM_011529768.2:c.383del XP_011528070.1:p.Ser128TrpfsTer4
XM_011529770.2:c.422del XP_011528072.1:p.Ser141TrpfsTer4
XM_017028487.1:c.269del XP_016883976.1:p.Ser90TrpfsTer4
XR_937576.2:n.648del
NM_001001890.3:c.341del NP_001001890.1:p.Ser114TrpfsTer4
NM_001122607.2:c.341del NP_001116079.1:p.Ser114TrpfsTer4
NM_001754.5:c.422del MANE Select NP_001745.2:p.Ser141TrpfsTer4