Canonical Allele Identifier: CA2580098637
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1897839
ClinVar RCV Id: RCV002573638

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886912del , CM000683.2:g.34886912del GRCh38
NC_000021.8:g.36259209del , CM000683.1:g.36259209del GRCh37
NC_000021.7:g.35181079del NCBI36
NG_011402.2:g.1102803del , LRG_482:g.1102803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.285del MANE Select ENSP00000501943.1:p.Asn96ThrfsTer26
ENST00000300305.7:c.285del ENSP00000300305.3:p.Asn96ThrfsTer26
ENST00000344691.8:c.204del ENSP00000340690.4:p.Asn69ThrfsTer26
ENST00000358356.9:c.204del ENSP00000351123.5:p.Asn69ThrfsTer26
ENST00000399237.6:c.249del ENSP00000382182.2:p.Asn84ThrfsTer26
ENST00000399240.5:c.204del ENSP00000382184.1:p.Asn69ThrfsTer26
ENST00000437180.5:c.285del ENSP00000409227.1:p.Asn96ThrfsTer26
ENST00000455571.5:c.246del ENSP00000388189.1:p.Asn83ThrfsTer26
ENST00000482318.5:c.59-6196del ENSP00000477067.1:n.59-6196del
NM_001001890.2:c.204del NP_001001890.1:p.Asn69ThrfsTer26
NM_001122607.1:c.204del NP_001116079.1:p.Asn69ThrfsTer26
NM_001754.4:c.285del , LRG_482t1:c.285del NP_001745.2:p.Asn96ThrfsTer26
XM_005261068.3:c.249del XP_005261125.1:p.Asn84ThrfsTer26
XM_005261069.3:c.285del XP_005261126.1:p.Asn96ThrfsTer26
XM_011529766.1:c.285del XP_011528068.1:p.Asn96ThrfsTer26
XM_011529767.1:c.246del XP_011528069.1:p.Asn83ThrfsTer26
XM_011529768.1:c.246del XP_011528070.1:p.Asn83ThrfsTer26
XM_011529770.1:c.285del XP_011528072.1:p.Asn96ThrfsTer26
XR_937576.1:n.464del
XM_005261069.4:c.285del XP_005261126.1:p.Asn96ThrfsTer26
XM_011529766.2:c.285del XP_011528068.1:p.Asn96ThrfsTer26
XM_011529767.2:c.246del XP_011528069.1:p.Asn83ThrfsTer26
XM_011529768.2:c.246del XP_011528070.1:p.Asn83ThrfsTer26
XM_011529770.2:c.285del XP_011528072.1:p.Asn96ThrfsTer26
XM_017028487.1:c.132del XP_016883976.1:p.Asn45ThrfsTer26
XR_937576.2:n.511del
NM_001001890.3:c.204del NP_001001890.1:p.Asn69ThrfsTer26
NM_001122607.2:c.204del NP_001116079.1:p.Asn69ThrfsTer26
NM_001754.5:c.285del MANE Select NP_001745.2:p.Asn96ThrfsTer26