Canonical Allele Identifier: CA2830782556
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880572_34880575del , CM000683.2:g.34880572_34880575del GRCh38
NC_000021.8:g.36252869_36252872del , CM000683.1:g.36252869_36252872del GRCh37
NC_000021.7:g.35174739_35174742del NCBI36
NG_011402.2:g.1109141_1109144del , LRG_482:g.1109141_1109144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.494_497del MANE Select ENSP00000501943.1:p.Gly165GlufsTer10
ENST00000300305.7:c.494_497del ENSP00000300305.3:p.Gly165GlufsTer10
ENST00000344691.8:c.413_416del ENSP00000340690.4:p.Gly138GlufsTer10
ENST00000358356.9:c.413_416del ENSP00000351123.5:p.Gly138GlufsTer10
ENST00000399237.6:c.458_461del ENSP00000382182.2:p.Gly153GlufsTer10
ENST00000399240.5:c.413_416del ENSP00000382184.1:p.Gly138GlufsTer10
ENST00000437180.5:c.494_497del ENSP00000409227.1:p.Gly165GlufsTer10
ENST00000482318.5:c.*84_*87del ENSP00000477067.1:n.*84_*87del
NM_001001890.2:c.413_416del NP_001001890.1:p.Gly138GlufsTer10
NM_001122607.1:c.413_416del NP_001116079.1:p.Gly138GlufsTer10
NM_001754.4:c.494_497del , LRG_482t1:c.494_497del NP_001745.2:p.Gly165GlufsTer10
XM_005261068.3:c.458_461del XP_005261125.1:p.Gly153GlufsTer10
XM_005261069.3:c.494_497del XP_005261126.1:p.Gly165GlufsTer10
XM_011529766.1:c.494_497del XP_011528068.1:p.Gly165GlufsTer10
XM_011529767.1:c.455_458del XP_011528069.1:p.Gly152GlufsTer10
XM_011529768.1:c.455_458del XP_011528070.1:p.Gly152GlufsTer10
XM_011529770.1:c.494_497del XP_011528072.1:p.Gly165GlufsTer10
XR_937576.1:n.673_676del
XM_005261069.4:c.494_497del XP_005261126.1:p.Gly165GlufsTer10
XM_011529766.2:c.494_497del XP_011528068.1:p.Gly165GlufsTer10
XM_011529767.2:c.455_458del XP_011528069.1:p.Gly152GlufsTer10
XM_011529768.2:c.455_458del XP_011528070.1:p.Gly152GlufsTer10
XM_011529770.2:c.494_497del XP_011528072.1:p.Gly165GlufsTer10
XM_017028487.1:c.341_344del XP_016883976.1:p.Gly114GlufsTer10
XR_937576.2:n.720_723del
NM_001001890.3:c.413_416del NP_001001890.1:p.Gly138GlufsTer10
NM_001122607.2:c.413_416del NP_001116079.1:p.Gly138GlufsTer10
NM_001754.5:c.494_497del MANE Select NP_001745.2:p.Gly165GlufsTer10