Canonical Allele Identifier: CA2695202658
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880651_34880652insGGAAGCTCAGCCGAGTAGTTT , CM000683.2:g.34880651_34880652insGGAAGCTCAGCCGAGTAGTTT GRCh38
NC_000021.8:g.36252948_36252949insGGAAGCTCAGCCGAGTAGTTT , CM000683.1:g.36252948_36252949insGGAAGCTCAGCCGAGTAGTTT GRCh37
NC_000021.7:g.35174818_35174819insGGAAGCTCAGCCGAGTAGTTT NCBI36
NG_011402.2:g.1109078_1109079insTCCAAACTACTCGGCTGAGCT , LRG_482:g.1109078_1109079insTCCAAACTACTCGGCTGAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.431_432insTCCAAACTACTCGGCTGAGCT MANE Select ENSP00000501943.1:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
ENST00000300305.7:c.431_432insTCCAAACTACTCGGCTGAGCT ENSP00000300305.3:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
ENST00000344691.8:c.350_351insTCCAAACTACTCGGCTGAGCT ENSP00000340690.4:p.Leu117_Arg118insProAsnTyrSerAlaGluLeu
ENST00000358356.9:c.350_351insTCCAAACTACTCGGCTGAGCT ENSP00000351123.5:p.Leu117_Arg118insProAsnTyrSerAlaGluLeu
ENST00000399237.6:c.395_396insTCCAAACTACTCGGCTGAGCT ENSP00000382182.2:p.Leu132_Arg133insProAsnTyrSerAlaGluLeu
ENST00000399240.5:c.350_351insTCCAAACTACTCGGCTGAGCT ENSP00000382184.1:p.Leu117_Arg118insProAsnTyrSerAlaGluLeu
ENST00000437180.5:c.431_432insTCCAAACTACTCGGCTGAGCT ENSP00000409227.1:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
ENST00000455571.5:c.392_393insTCCAAACTACTCGGCTGAGCT ENSP00000388189.1:p.Leu131_Arg132insProAsnTyrSerAlaGluLeu
ENST00000482318.5:c.*21_*22insTCCAAACTACTCGGCTGAGCT ENSP00000477067.1:n.*21_*22insTCCAAACTACTCGGCTGAGCT
NM_001001890.2:c.350_351insTCCAAACTACTCGGCTGAGCT NP_001001890.1:p.Leu117_Arg118insProAsnTyrSerAlaGluLeu
NM_001122607.1:c.350_351insTCCAAACTACTCGGCTGAGCT NP_001116079.1:p.Leu117_Arg118insProAsnTyrSerAlaGluLeu
NM_001754.4:c.431_432insTCCAAACTACTCGGCTGAGCT , LRG_482t1:c.431_432insTCCAAACTACTCGGCTGAGCT NP_001745.2:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
XM_005261068.3:c.395_396insTCCAAACTACTCGGCTGAGCT XP_005261125.1:p.Leu132_Arg133insProAsnTyrSerAlaGluLeu
XM_005261069.3:c.431_432insTCCAAACTACTCGGCTGAGCT XP_005261126.1:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
XM_011529766.1:c.431_432insTCCAAACTACTCGGCTGAGCT XP_011528068.1:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
XM_011529767.1:c.392_393insTCCAAACTACTCGGCTGAGCT XP_011528069.1:p.Leu131_Arg132insProAsnTyrSerAlaGluLeu
XM_011529768.1:c.392_393insTCCAAACTACTCGGCTGAGCT XP_011528070.1:p.Leu131_Arg132insProAsnTyrSerAlaGluLeu
XM_011529770.1:c.431_432insTCCAAACTACTCGGCTGAGCT XP_011528072.1:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
XR_937576.1:n.610_611insTCCAAACTACTCGGCTGAGCT
XM_005261069.4:c.431_432insTCCAAACTACTCGGCTGAGCT XP_005261126.1:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
XM_011529766.2:c.431_432insTCCAAACTACTCGGCTGAGCT XP_011528068.1:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
XM_011529767.2:c.392_393insTCCAAACTACTCGGCTGAGCT XP_011528069.1:p.Leu131_Arg132insProAsnTyrSerAlaGluLeu
XM_011529768.2:c.392_393insTCCAAACTACTCGGCTGAGCT XP_011528070.1:p.Leu131_Arg132insProAsnTyrSerAlaGluLeu
XM_011529770.2:c.431_432insTCCAAACTACTCGGCTGAGCT XP_011528072.1:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
XM_017028487.1:c.278_279insTCCAAACTACTCGGCTGAGCT XP_016883976.1:p.Leu93_Arg94insProAsnTyrSerAlaGluLeu
XR_937576.2:n.657_658insTCCAAACTACTCGGCTGAGCT
NM_001001890.3:c.350_351insTCCAAACTACTCGGCTGAGCT NP_001001890.1:p.Leu117_Arg118insProAsnTyrSerAlaGluLeu
NM_001122607.2:c.350_351insTCCAAACTACTCGGCTGAGCT NP_001116079.1:p.Leu117_Arg118insProAsnTyrSerAlaGluLeu
NM_001754.5:c.431_432insTCCAAACTACTCGGCTGAGCT MANE Select NP_001745.2:p.Leu144_Arg145insProAsnTyrSerAlaGluLeu
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