Canonical Allele Identifier: CA645607327
Gene: RUNX1 HGNC NCBI

Linked Data

COSMIC: COSM5879731 COSM5879732
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880567_34880568insAGCC , CM000683.2:g.34880567_34880568insAGCC GRCh38
NC_000021.8:g.36252864_36252865insAGCC , CM000683.1:g.36252864_36252865insAGCC GRCh37
NC_000021.7:g.35174734_35174735insAGCC NCBI36
NG_011402.2:g.1109144_1109145insGGCT , LRG_482:g.1109144_1109145insGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.497_498insGGCT MANE Select ENSP00000501943.1:p.Ser167AlafsTer?
ENST00000300305.7:c.497_498insGGCT ENSP00000300305.3:p.Ser167AlafsTer?
ENST00000344691.8:c.416_417insGGCT ENSP00000340690.4:p.Ser140AlafsTer?
ENST00000358356.9:c.416_417insGGCT ENSP00000351123.5:p.Ser140AlafsTer?
ENST00000399237.6:c.461_462insGGCT ENSP00000382182.2:p.Ser155AlafsTer?
ENST00000399240.5:c.416_417insGGCT ENSP00000382184.1:p.Ser140AlafsTer?
ENST00000437180.5:c.497_498insGGCT ENSP00000409227.1:p.Ser167AlafsTer?
ENST00000482318.5:c.*87_*88insGGCT ENSP00000477067.1:n.*87_*88insGGCT
NM_001001890.2:c.416_417insGGCT NP_001001890.1:p.Ser140AlafsTer?
NM_001122607.1:c.416_417insGGCT NP_001116079.1:p.Ser140AlafsTer?
NM_001754.4:c.497_498insGGCT , LRG_482t1:c.497_498insGGCT NP_001745.2:p.Ser167AlafsTer?
XM_005261068.3:c.461_462insGGCT XP_005261125.1:p.Ser155AlafsTer?
XM_005261069.3:c.497_498insGGCT XP_005261126.1:p.Ser167AlafsTer?
XM_011529766.1:c.497_498insGGCT XP_011528068.1:p.Ser167AlafsTer?
XM_011529767.1:c.458_459insGGCT XP_011528069.1:p.Ser154AlafsTer?
XM_011529768.1:c.458_459insGGCT XP_011528070.1:p.Ser154AlafsTer?
XM_011529770.1:c.497_498insGGCT XP_011528072.1:p.Ser167AlafsTer?
XR_937576.1:n.676_677insGGCT
XM_005261069.4:c.497_498insGGCT XP_005261126.1:p.Ser167AlafsTer?
XM_011529766.2:c.497_498insGGCT XP_011528068.1:p.Ser167AlafsTer?
XM_011529767.2:c.458_459insGGCT XP_011528069.1:p.Ser154AlafsTer?
XM_011529768.2:c.458_459insGGCT XP_011528070.1:p.Ser154AlafsTer?
XM_011529770.2:c.497_498insGGCT XP_011528072.1:p.Ser167AlafsTer?
XM_017028487.1:c.344_345insGGCT XP_016883976.1:p.Ser116AlafsTer?
XR_937576.2:n.723_724insGGCT
NM_001001890.3:c.416_417insGGCT NP_001001890.1:p.Ser140AlafsTer?
NM_001122607.2:c.416_417insGGCT NP_001116079.1:p.Ser140AlafsTer?
NM_001754.5:c.497_498insGGCT MANE Select NP_001745.2:p.Ser167AlafsTer?
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