Canonical Allele Identifier: CA2697547498
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2750881
ClinVar RCV Id: RCV003514978

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886861_34886903dup , CM000683.2:g.34886861_34886903dup GRCh38
NC_000021.8:g.36259158_36259200dup , CM000683.1:g.36259158_36259200dup GRCh37
NC_000021.7:g.35181028_35181070dup NCBI36
NG_011402.2:g.1102810_1102852dup , LRG_482:g.1102810_1102852dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.292_334dup MANE Select ENSP00000501943.1:p.Leu112ProfsTer40
ENST00000300305.7:c.292_334dup ENSP00000300305.3:p.Leu112ProfsTer40
ENST00000344691.8:c.211_253dup ENSP00000340690.4:p.Leu85ProfsTer40
ENST00000358356.9:c.211_253dup ENSP00000351123.5:p.Leu85ProfsTer40
ENST00000399237.6:c.256_298dup ENSP00000382182.2:p.Leu100ProfsTer40
ENST00000399240.5:c.211_253dup ENSP00000382184.1:p.Leu85ProfsTer40
ENST00000437180.5:c.292_334dup ENSP00000409227.1:p.Leu112ProfsTer40
ENST00000455571.5:c.253_295dup ENSP00000388189.1:p.Leu99ProfsTer40
ENST00000482318.5:c.59-6189_59-6147dup ENSP00000477067.1:n.59-6189_59-6147dup
NM_001001890.2:c.211_253dup NP_001001890.1:p.Leu85ProfsTer40
NM_001122607.1:c.211_253dup NP_001116079.1:p.Leu85ProfsTer40
NM_001754.4:c.292_334dup , LRG_482t1:c.292_334dup NP_001745.2:p.Leu112ProfsTer40
XM_005261068.3:c.256_298dup XP_005261125.1:p.Leu100ProfsTer40
XM_005261069.3:c.292_334dup XP_005261126.1:p.Leu112ProfsTer40
XM_011529766.1:c.292_334dup XP_011528068.1:p.Leu112ProfsTer40
XM_011529767.1:c.253_295dup XP_011528069.1:p.Leu99ProfsTer40
XM_011529768.1:c.253_295dup XP_011528070.1:p.Leu99ProfsTer40
XM_011529770.1:c.292_334dup XP_011528072.1:p.Leu112ProfsTer40
XR_937576.1:n.471_513dup
XM_005261069.4:c.292_334dup XP_005261126.1:p.Leu112ProfsTer40
XM_011529766.2:c.292_334dup XP_011528068.1:p.Leu112ProfsTer40
XM_011529767.2:c.253_295dup XP_011528069.1:p.Leu99ProfsTer40
XM_011529768.2:c.253_295dup XP_011528070.1:p.Leu99ProfsTer40
XM_011529770.2:c.292_334dup XP_011528072.1:p.Leu112ProfsTer40
XM_017028487.1:c.139_181dup XP_016883976.1:p.Leu61ProfsTer40
XR_937576.2:n.518_560dup
NM_001001890.3:c.211_253dup NP_001001890.1:p.Leu85ProfsTer40
NM_001122607.2:c.211_253dup NP_001116079.1:p.Leu85ProfsTer40
NM_001754.5:c.292_334dup MANE Select NP_001745.2:p.Leu112ProfsTer40