Canonical Allele Identifier: CA2573320718
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2665099
ClinVar RCV Id: RCV003448649
ERepo: CA2573320718/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792610del , CM000683.2:g.34792610del GRCh38
NC_000021.8:g.36164907del , CM000683.1:g.36164907del GRCh37
NC_000021.7:g.35086777del NCBI36
NG_011402.2:g.1197102del , LRG_482:g.1197102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.968del MANE Select ENSP00000501943.1:p.Thr323ArgfsTer5
ENST00000300305.7:c.968del ENSP00000300305.3:p.Thr323ArgfsTer5
ENST00000344691.8:c.887del ENSP00000340690.4:p.Thr296ArgfsTer5
ENST00000399240.5:c.695del ENSP00000382184.1:p.Thr232ArgfsTer5
ENST00000437180.5:c.968del ENSP00000409227.1:p.Thr323ArgfsTer5
ENST00000482318.5:c.*558del ENSP00000477067.1:n.*558del
NM_001001890.2:c.887del NP_001001890.1:p.Thr296ArgfsTer5
NM_001754.4:c.968del , LRG_482t1:c.968del NP_001745.2:p.Thr323ArgfsTer5
XM_005261068.3:c.932del XP_005261125.1:p.Thr311ArgfsTer5
XM_005261069.3:c.776del XP_005261126.1:p.Thr259ArgfsTer5
XM_011529766.1:c.968del XP_011528068.1:p.Thr323ArgfsTer5
XM_011529767.1:c.929del XP_011528069.1:p.Thr310ArgfsTer5
XM_011529768.1:c.737del XP_011528070.1:p.Thr246ArgfsTer5
XR_937576.1:n.4572del
XM_005261069.4:c.776del XP_005261126.1:p.Thr259ArgfsTer5
XM_011529766.2:c.968del XP_011528068.1:p.Thr323ArgfsTer5
XM_011529767.2:c.929del XP_011528069.1:p.Thr310ArgfsTer5
XM_011529768.2:c.737del XP_011528070.1:p.Thr246ArgfsTer5
XM_017028487.1:c.815del XP_016883976.1:p.Thr272ArgfsTer5
XR_937576.2:n.4619del
NM_001001890.3:c.887del NP_001001890.1:p.Thr296ArgfsTer5
NM_001754.5:c.968del MANE Select NP_001745.2:p.Thr323ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'