Canonical Allele Identifier: CA645607373
Gene: RUNX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880640_34880643dup , CM000683.2:g.34880640_34880643dup GRCh38
NC_000021.8:g.36252937_36252940dup , CM000683.1:g.36252937_36252940dup GRCh37
NC_000021.7:g.35174807_35174810dup NCBI36
NG_011402.2:g.1109069_1109072dup , LRG_482:g.1109069_1109072dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.422_425dup MANE Select ENSP00000501943.1:p.Glu143GlyfsTer2
ENST00000300305.7:c.422_425dup ENSP00000300305.3:p.Glu143GlyfsTer2
ENST00000344691.8:c.341_344dup ENSP00000340690.4:p.Glu116GlyfsTer2
ENST00000358356.9:c.341_344dup ENSP00000351123.5:p.Glu116GlyfsTer2
ENST00000399237.6:c.386_389dup ENSP00000382182.2:p.Glu131GlyfsTer2
ENST00000399240.5:c.341_344dup ENSP00000382184.1:p.Glu116GlyfsTer2
ENST00000437180.5:c.422_425dup ENSP00000409227.1:p.Glu143GlyfsTer2
ENST00000455571.5:c.383_386dup ENSP00000388189.1:p.Glu130GlyfsTer2
ENST00000482318.5:c.*12_*15dup ENSP00000477067.1:n.*12_*15dup
NM_001001890.2:c.341_344dup NP_001001890.1:p.Glu116GlyfsTer2
NM_001122607.1:c.341_344dup NP_001116079.1:p.Glu116GlyfsTer2
NM_001754.4:c.422_425dup , LRG_482t1:c.422_425dup NP_001745.2:p.Glu143GlyfsTer2
XM_005261068.3:c.386_389dup XP_005261125.1:p.Glu131GlyfsTer2
XM_005261069.3:c.422_425dup XP_005261126.1:p.Glu143GlyfsTer2
XM_011529766.1:c.422_425dup XP_011528068.1:p.Glu143GlyfsTer2
XM_011529767.1:c.383_386dup XP_011528069.1:p.Glu130GlyfsTer2
XM_011529768.1:c.383_386dup XP_011528070.1:p.Glu130GlyfsTer2
XM_011529770.1:c.422_425dup XP_011528072.1:p.Glu143GlyfsTer2
XR_937576.1:n.601_604dup
XM_005261069.4:c.422_425dup XP_005261126.1:p.Glu143GlyfsTer2
XM_011529766.2:c.422_425dup XP_011528068.1:p.Glu143GlyfsTer2
XM_011529767.2:c.383_386dup XP_011528069.1:p.Glu130GlyfsTer2
XM_011529768.2:c.383_386dup XP_011528070.1:p.Glu130GlyfsTer2
XM_011529770.2:c.422_425dup XP_011528072.1:p.Glu143GlyfsTer2
XM_017028487.1:c.269_272dup XP_016883976.1:p.Glu92GlyfsTer2
XR_937576.2:n.648_651dup
NM_001001890.3:c.341_344dup NP_001001890.1:p.Glu116GlyfsTer2
NM_001122607.2:c.341_344dup NP_001116079.1:p.Glu116GlyfsTer2
NM_001754.5:c.422_425dup MANE Select NP_001745.2:p.Glu143GlyfsTer2