Canonical Allele Identifier: CA2580098653
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2101398
ClinVar RCV Id: RCV003016883

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887050del , CM000683.2:g.34887050del GRCh38
NC_000021.8:g.36259347del , CM000683.1:g.36259347del GRCh37
NC_000021.7:g.35181217del NCBI36
NG_011402.2:g.1102664del , LRG_482:g.1102664del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.146del MANE Select ENSP00000501943.1:p.Pro49GlnfsTer4
ENST00000300305.7:c.146del ENSP00000300305.3:p.Pro49GlnfsTer4
ENST00000344691.8:c.65del ENSP00000340690.4:p.Pro22GlnfsTer4
ENST00000358356.9:c.65del ENSP00000351123.5:p.Pro22GlnfsTer4
ENST00000399237.6:c.110del ENSP00000382182.2:p.Pro37GlnfsTer4
ENST00000399240.5:c.65del ENSP00000382184.1:p.Pro22GlnfsTer4
ENST00000437180.5:c.146del ENSP00000409227.1:p.Pro49GlnfsTer4
ENST00000455571.5:c.107del ENSP00000388189.1:p.Pro36GlnfsTer4
ENST00000475045.6:c.146del ENSP00000477072.1:p.Pro49GlnfsTer?
ENST00000482318.5:c.59-6335del ENSP00000477067.1:n.59-6335del
NM_001001890.2:c.65del NP_001001890.1:p.Pro22GlnfsTer4
NM_001122607.1:c.65del NP_001116079.1:p.Pro22GlnfsTer4
NM_001754.4:c.146del , LRG_482t1:c.146del NP_001745.2:p.Pro49GlnfsTer4
XM_005261068.3:c.110del XP_005261125.1:p.Pro37GlnfsTer4
XM_005261069.3:c.146del XP_005261126.1:p.Pro49GlnfsTer4
XM_011529766.1:c.146del XP_011528068.1:p.Pro49GlnfsTer4
XM_011529767.1:c.107del XP_011528069.1:p.Pro36GlnfsTer4
XM_011529768.1:c.107del XP_011528070.1:p.Pro36GlnfsTer4
XM_011529770.1:c.146del XP_011528072.1:p.Pro49GlnfsTer4
XR_937576.1:n.325del
XM_005261069.4:c.146del XP_005261126.1:p.Pro49GlnfsTer4
XM_011529766.2:c.146del XP_011528068.1:p.Pro49GlnfsTer4
XM_011529767.2:c.107del XP_011528069.1:p.Pro36GlnfsTer4
XM_011529768.2:c.107del XP_011528070.1:p.Pro36GlnfsTer4
XM_011529770.2:c.146del XP_011528072.1:p.Pro49GlnfsTer4
XM_017028487.1:c.-8del XP_016883976.1:n.-8del
XR_937576.2:n.372del
NM_001001890.3:c.65del NP_001001890.1:p.Pro22GlnfsTer4
NM_001122607.2:c.65del NP_001116079.1:p.Pro22GlnfsTer4
NM_001754.5:c.146del MANE Select NP_001745.2:p.Pro49GlnfsTer4