Canonical Allele Identifier: CA2580617823
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880620_34880651dup , CM000683.2:g.34880620_34880651dup GRCh38
NC_000021.8:g.36252917_36252948dup , CM000683.1:g.36252917_36252948dup GRCh37
NC_000021.7:g.35174787_35174818dup NCBI36
NG_011402.2:g.1109061_1109092dup , LRG_482:g.1109061_1109092dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.414_445dup MANE Select ENSP00000501943.1:p.Ala149GlufsTer7
ENST00000300305.7:c.414_445dup ENSP00000300305.3:p.Ala149GlufsTer7
ENST00000344691.8:c.333_364dup ENSP00000340690.4:p.Ala122GlufsTer7
ENST00000358356.9:c.333_364dup ENSP00000351123.5:p.Ala122GlufsTer7
ENST00000399237.6:c.378_409dup ENSP00000382182.2:p.Ala137GlufsTer7
ENST00000399240.5:c.333_364dup ENSP00000382184.1:p.Ala122GlufsTer7
ENST00000437180.5:c.414_445dup ENSP00000409227.1:p.Ala149GlufsTer7
ENST00000455571.5:c.375_406dup ENSP00000388189.1:p.Ala136GlufsTer7
ENST00000482318.5:c.*4_*35dup ENSP00000477067.1:n.*4_*35dup
NM_001001890.2:c.333_364dup NP_001001890.1:p.Ala122GlufsTer7
NM_001122607.1:c.333_364dup NP_001116079.1:p.Ala122GlufsTer7
NM_001754.4:c.414_445dup , LRG_482t1:c.414_445dup NP_001745.2:p.Ala149GlufsTer7
XM_005261068.3:c.378_409dup XP_005261125.1:p.Ala137GlufsTer7
XM_005261069.3:c.414_445dup XP_005261126.1:p.Ala149GlufsTer7
XM_011529766.1:c.414_445dup XP_011528068.1:p.Ala149GlufsTer7
XM_011529767.1:c.375_406dup XP_011528069.1:p.Ala136GlufsTer7
XM_011529768.1:c.375_406dup XP_011528070.1:p.Ala136GlufsTer7
XM_011529770.1:c.414_445dup XP_011528072.1:p.Ala149GlufsTer7
XR_937576.1:n.593_624dup
XM_005261069.4:c.414_445dup XP_005261126.1:p.Ala149GlufsTer7
XM_011529766.2:c.414_445dup XP_011528068.1:p.Ala149GlufsTer7
XM_011529767.2:c.375_406dup XP_011528069.1:p.Ala136GlufsTer7
XM_011529768.2:c.375_406dup XP_011528070.1:p.Ala136GlufsTer7
XM_011529770.2:c.414_445dup XP_011528072.1:p.Ala149GlufsTer7
XM_017028487.1:c.261_292dup XP_016883976.1:p.Ala98GlufsTer7
XR_937576.2:n.640_671dup
NM_001001890.3:c.333_364dup NP_001001890.1:p.Ala122GlufsTer7
NM_001122607.2:c.333_364dup NP_001116079.1:p.Ala122GlufsTer7
NM_001754.5:c.414_445dup MANE Select NP_001745.2:p.Ala149GlufsTer7