Canonical Allele Identifier: CA2580098634
Community Standard Title: NM_001754.5(RUNX1):c.590_597del (p.Val197AlafsTer13)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34859491_34859498del , CM000683.2:g.34859491_34859498del GRCh38
NC_000021.8:g.36231788_36231795del , CM000683.1:g.36231788_36231795del GRCh37
NC_000021.7:g.35153658_35153665del NCBI36
NG_011402.2:g.1130215_1130222del , LRG_482:g.1130215_1130222del

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.590_597del MANE Select NP_001745.2:p.Val197AlafsTer13
ENST00000675419.1:c.590_597del MANE Select ENSP00000501943.1:p.Val197AlafsTer13
NM_001001890.2:c.509_516del NP_001001890.1:p.Val170AlafsTer13
NM_001001890.3:c.509_516del NP_001001890.1:p.Val170AlafsTer13
NM_001122607.1:c.509_516del NP_001116079.1:p.Val170AlafsTer13
NM_001122607.2:c.509_516del NP_001116079.1:p.Val170AlafsTer13
NM_001754.4:c.590_597del , LRG_482t1:c.590_597del NP_001745.2:p.Val197AlafsTer13
ENST00000300305.7:c.590_597del ENSP00000300305.3:p.Val197AlafsTer13
ENST00000344691.8:c.509_516del ENSP00000340690.4:p.Val170AlafsTer13
ENST00000358356.9:c.509_516del ENSP00000351123.5:p.Val170AlafsTer13
ENST00000399237.6:c.554_561del ENSP00000382182.2:p.Val185AlafsTer13
ENST00000399240.5:c.509_516del ENSP00000382184.1:p.Val170AlafsTer?
ENST00000437180.5:c.590_597del ENSP00000409227.1:p.Val197AlafsTer13
ENST00000467577.1:n.82_89del
ENST00000482318.5:c.*180_*187del ENSP00000477067.1:n.*180_*187del
XM_005261068.3:c.554_561del XP_005261125.1:p.Val185AlafsTer13
XM_005261069.3:c.590_597del XP_005261126.1:p.Val197AlafsTer?
XM_005261069.4:c.590_597del XP_005261126.1:p.Val197AlafsTer?
XM_011529766.1:c.590_597del XP_011528068.1:p.Val197AlafsTer13
XM_011529766.2:c.590_597del XP_011528068.1:p.Val197AlafsTer13
XM_011529767.1:c.551_558del XP_011528069.1:p.Val184AlafsTer13
XM_011529767.2:c.551_558del XP_011528069.1:p.Val184AlafsTer13
XM_011529768.1:c.551_558del XP_011528070.1:p.Val184AlafsTer?
XM_011529768.2:c.551_558del XP_011528070.1:p.Val184AlafsTer?
XM_011529770.1:c.590_597del XP_011528072.1:p.Val197AlafsTer13
XM_011529770.2:c.590_597del XP_011528072.1:p.Val197AlafsTer13
XM_017028487.1:c.437_444del XP_016883976.1:p.Val146AlafsTer13
XR_937576.1:n.769_776del
XR_937576.2:n.816_823del