Canonical Allele Identifier: CA913189256
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 978818
ClinVar RCV Id: RCV001257572
dbSNP Id: rs2058002908

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886999_34887029del , CM000683.2:g.34886999_34887029del GRCh38
NC_000021.8:g.36259296_36259326del , CM000683.1:g.36259296_36259326del GRCh37
NC_000021.7:g.35181166_35181196del NCBI36
NG_011402.2:g.1102684_1102714del , LRG_482:g.1102684_1102714del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.166_196del MANE Select ENSP00000501943.1:p.Leu56ProfsTer6
ENST00000300305.7:c.166_196del ENSP00000300305.3:p.Leu56ProfsTer6
ENST00000344691.8:c.85_115del ENSP00000340690.4:p.Leu29ProfsTer6
ENST00000358356.9:c.85_115del ENSP00000351123.5:p.Leu29ProfsTer6
ENST00000399237.6:c.130_160del ENSP00000382182.2:p.Leu44ProfsTer6
ENST00000399240.5:c.85_115del ENSP00000382184.1:p.Leu29ProfsTer6
ENST00000437180.5:c.166_196del ENSP00000409227.1:p.Leu56ProfsTer6
ENST00000455571.5:c.127_157del ENSP00000388189.1:p.Leu43ProfsTer6
ENST00000482318.5:c.59-6315_59-6285del ENSP00000477067.1:n.59-6315_59-6285del
NM_001001890.2:c.85_115del NP_001001890.1:p.Leu29ProfsTer6
NM_001122607.1:c.85_115del NP_001116079.1:p.Leu29ProfsTer6
NM_001754.4:c.166_196del , LRG_482t1:c.166_196del NP_001745.2:p.Leu56ProfsTer6
XM_005261068.3:c.130_160del XP_005261125.1:p.Leu44ProfsTer6
XM_005261069.3:c.166_196del XP_005261126.1:p.Leu56ProfsTer6
XM_011529766.1:c.166_196del XP_011528068.1:p.Leu56ProfsTer6
XM_011529767.1:c.127_157del XP_011528069.1:p.Leu43ProfsTer6
XM_011529768.1:c.127_157del XP_011528070.1:p.Leu43ProfsTer6
XM_011529770.1:c.166_196del XP_011528072.1:p.Leu56ProfsTer6
XR_937576.1:n.345_375del
XM_005261069.4:c.166_196del XP_005261126.1:p.Leu56ProfsTer6
XM_011529766.2:c.166_196del XP_011528068.1:p.Leu56ProfsTer6
XM_011529767.2:c.127_157del XP_011528069.1:p.Leu43ProfsTer6
XM_011529768.2:c.127_157del XP_011528070.1:p.Leu43ProfsTer6
XM_011529770.2:c.166_196del XP_011528072.1:p.Leu56ProfsTer6
XM_017028487.1:c.13_43del XP_016883976.1:p.Leu5ProfsTer6
XR_937576.2:n.392_422del
NM_001001890.3:c.85_115del NP_001001890.1:p.Leu29ProfsTer6
NM_001122607.2:c.85_115del NP_001116079.1:p.Leu29ProfsTer6
NM_001754.5:c.166_196del MANE Select NP_001745.2:p.Leu56ProfsTer6