Canonical Allele Identifier: CA512318692
Gene: RUNX1 HGNC NCBI

Linked Data

COSMIC: COSM25135
MyVariant Identifiers: chr21:g.36252893del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880597del , CM000683.2:g.34880597del GRCh38
NC_000021.8:g.36252894del , CM000683.1:g.36252894del GRCh37
NC_000021.7:g.35174764del NCBI36
NG_011402.2:g.1109116del , LRG_482:g.1109116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.469del MANE Select ENSP00000501943.1:p.Arg157AspfsTer19
ENST00000300305.7:c.469del ENSP00000300305.3:p.Arg157AspfsTer19
ENST00000344691.8:c.388del ENSP00000340690.4:p.Arg130AspfsTer19
ENST00000358356.9:c.388del ENSP00000351123.5:p.Arg130AspfsTer19
ENST00000399237.6:c.433del ENSP00000382182.2:p.Arg145AspfsTer19
ENST00000399240.5:c.388del ENSP00000382184.1:p.Arg130AspfsTer19
ENST00000437180.5:c.469del ENSP00000409227.1:p.Arg157AspfsTer19
ENST00000482318.5:c.*59del ENSP00000477067.1:n.*59del
NM_001001890.2:c.388del NP_001001890.1:p.Arg130AspfsTer19
NM_001122607.1:c.388del NP_001116079.1:p.Arg130AspfsTer19
NM_001754.4:c.469del , LRG_482t1:c.469del NP_001745.2:p.Arg157AspfsTer19
XM_005261068.3:c.433del XP_005261125.1:p.Arg145AspfsTer19
XM_005261069.3:c.469del XP_005261126.1:p.Arg157AspfsTer19
XM_011529766.1:c.469del XP_011528068.1:p.Arg157AspfsTer19
XM_011529767.1:c.430del XP_011528069.1:p.Arg144AspfsTer19
XM_011529768.1:c.430del XP_011528070.1:p.Arg144AspfsTer19
XM_011529770.1:c.469del XP_011528072.1:p.Arg157AspfsTer19
XR_937576.1:n.648del
XM_005261069.4:c.469del XP_005261126.1:p.Arg157AspfsTer19
XM_011529766.2:c.469del XP_011528068.1:p.Arg157AspfsTer19
XM_011529767.2:c.430del XP_011528069.1:p.Arg144AspfsTer19
XM_011529768.2:c.430del XP_011528070.1:p.Arg144AspfsTer19
XM_011529770.2:c.469del XP_011528072.1:p.Arg157AspfsTer19
XM_017028487.1:c.316del XP_016883976.1:p.Arg106AspfsTer19
XR_937576.2:n.695del
NM_001001890.3:c.388del NP_001001890.1:p.Arg130AspfsTer19
NM_001122607.2:c.388del NP_001116079.1:p.Arg130AspfsTer19
NM_001754.5:c.469del MANE Select NP_001745.2:p.Arg157AspfsTer19