Canonical Allele Identifier: CA2695230130
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880648_34880660del , CM000683.2:g.34880648_34880660del GRCh38
NC_000021.8:g.36252945_36252957del , CM000683.1:g.36252945_36252957del GRCh37
NC_000021.7:g.35174815_35174827del NCBI36
NG_011402.2:g.1109052_1109064del , LRG_482:g.1109052_1109064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.405_417del MANE Select ENSP00000501943.1:p.Asn136ThrfsTer5
ENST00000300305.7:c.405_417del ENSP00000300305.3:p.Asn136ThrfsTer5
ENST00000344691.8:c.324_336del ENSP00000340690.4:p.Asn109ThrfsTer5
ENST00000358356.9:c.324_336del ENSP00000351123.5:p.Asn109ThrfsTer5
ENST00000399237.6:c.369_381del ENSP00000382182.2:p.Asn124ThrfsTer5
ENST00000399240.5:c.324_336del ENSP00000382184.1:p.Asn109ThrfsTer5
ENST00000437180.5:c.405_417del ENSP00000409227.1:p.Asn136ThrfsTer5
ENST00000455571.5:c.366_378del ENSP00000388189.1:p.Asn123ThrfsTer5
ENST00000482318.5:c.112_*7del ENSP00000477067.1:n.[c.112_*7del;Gln38TyrfsTer?]
NM_001001890.2:c.324_336del NP_001001890.1:p.Asn109ThrfsTer5
NM_001122607.1:c.324_336del NP_001116079.1:p.Asn109ThrfsTer5
NM_001754.4:c.405_417del , LRG_482t1:c.405_417del NP_001745.2:p.Asn136ThrfsTer5
XM_005261068.3:c.369_381del XP_005261125.1:p.Asn124ThrfsTer5
XM_005261069.3:c.405_417del XP_005261126.1:p.Asn136ThrfsTer5
XM_011529766.1:c.405_417del XP_011528068.1:p.Asn136ThrfsTer5
XM_011529767.1:c.366_378del XP_011528069.1:p.Asn123ThrfsTer5
XM_011529768.1:c.366_378del XP_011528070.1:p.Asn123ThrfsTer5
XM_011529770.1:c.405_417del XP_011528072.1:p.Asn136ThrfsTer5
XR_937576.1:n.584_596del
XM_005261069.4:c.405_417del XP_005261126.1:p.Asn136ThrfsTer5
XM_011529766.2:c.405_417del XP_011528068.1:p.Asn136ThrfsTer5
XM_011529767.2:c.366_378del XP_011528069.1:p.Asn123ThrfsTer5
XM_011529768.2:c.366_378del XP_011528070.1:p.Asn123ThrfsTer5
XM_011529770.2:c.405_417del XP_011528072.1:p.Asn136ThrfsTer5
XM_017028487.1:c.252_264del XP_016883976.1:p.Asn85ThrfsTer5
XR_937576.2:n.631_643del
NM_001001890.3:c.324_336del NP_001001890.1:p.Asn109ThrfsTer5
NM_001122607.2:c.324_336del NP_001116079.1:p.Asn109ThrfsTer5
NM_001754.5:c.405_417del MANE Select NP_001745.2:p.Asn136ThrfsTer5