Canonical Allele Identifier: CA2737785213
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146411066

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886957del , CM000683.2:g.34886957del GRCh38
NC_000021.8:g.36259254del , CM000683.1:g.36259254del GRCh37
NC_000021.7:g.35181124del NCBI36
NG_011402.2:g.1102756del , LRG_482:g.1102756del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.238del MANE Select ENSP00000501943.1:p.Glu80ArgfsTer?
ENST00000300305.7:c.238del ENSP00000300305.3:p.Glu80ArgfsTer?
ENST00000344691.8:c.157del ENSP00000340690.4:p.Glu53ArgfsTer?
ENST00000358356.9:c.157del ENSP00000351123.5:p.Glu53ArgfsTer?
ENST00000399237.6:c.202del ENSP00000382182.2:p.Glu68ArgfsTer?
ENST00000399240.5:c.157del ENSP00000382184.1:p.Glu53ArgfsTer?
ENST00000437180.5:c.238del ENSP00000409227.1:p.Glu80ArgfsTer?
ENST00000455571.5:c.199del ENSP00000388189.1:p.Glu67ArgfsTer?
ENST00000482318.5:c.59-6243del ENSP00000477067.1:n.59-6243del
NM_001001890.2:c.157del NP_001001890.1:p.Glu53ArgfsTer?
NM_001122607.1:c.157del NP_001116079.1:p.Glu53ArgfsTer?
NM_001754.4:c.238del , LRG_482t1:c.238del NP_001745.2:p.Glu80ArgfsTer?
XM_005261068.3:c.202del XP_005261125.1:p.Glu68ArgfsTer?
XM_005261069.3:c.238del XP_005261126.1:p.Glu80ArgfsTer?
XM_011529766.1:c.238del XP_011528068.1:p.Glu80ArgfsTer?
XM_011529767.1:c.199del XP_011528069.1:p.Glu67ArgfsTer?
XM_011529768.1:c.199del XP_011528070.1:p.Glu67ArgfsTer?
XM_011529770.1:c.238del XP_011528072.1:p.Glu80ArgfsTer?
XR_937576.1:n.417del
XM_005261069.4:c.238del XP_005261126.1:p.Glu80ArgfsTer?
XM_011529766.2:c.238del XP_011528068.1:p.Glu80ArgfsTer?
XM_011529767.2:c.199del XP_011528069.1:p.Glu67ArgfsTer?
XM_011529768.2:c.199del XP_011528070.1:p.Glu67ArgfsTer?
XM_011529770.2:c.238del XP_011528072.1:p.Glu80ArgfsTer?
XM_017028487.1:c.85del XP_016883976.1:p.Glu29ArgfsTer?
XR_937576.2:n.464del
NM_001001890.3:c.157del NP_001001890.1:p.Glu53ArgfsTer?
NM_001122607.2:c.157del NP_001116079.1:p.Glu53ArgfsTer?
NM_001754.5:c.238del MANE Select NP_001745.2:p.Glu80ArgfsTer?