Canonical Allele Identifier: CA658824419
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 561238
dbSNP Id: rs1569079076

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880642dup , CM000683.2:g.34880642dup GRCh38
NC_000021.8:g.36252939dup , CM000683.1:g.36252939dup GRCh37
NC_000021.7:g.35174809dup NCBI36
NG_011402.2:g.1109071dup , LRG_482:g.1109071dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.424dup MANE Select ENSP00000501943.1:p.Ala142GlyfsTer2
ENST00000300305.7:c.424dup ENSP00000300305.3:p.Ala142GlyfsTer2
ENST00000344691.8:c.343dup ENSP00000340690.4:p.Ala115GlyfsTer2
ENST00000358356.9:c.343dup ENSP00000351123.5:p.Ala115GlyfsTer2
ENST00000399237.6:c.388dup ENSP00000382182.2:p.Ala130GlyfsTer2
ENST00000399240.5:c.343dup ENSP00000382184.1:p.Ala115GlyfsTer2
ENST00000437180.5:c.424dup ENSP00000409227.1:p.Ala142GlyfsTer2
ENST00000455571.5:c.385dup ENSP00000388189.1:p.Ala129GlyfsTer2
ENST00000482318.5:c.*14dup ENSP00000477067.1:n.*14dup
NM_001001890.2:c.343dup NP_001001890.1:p.Ala115GlyfsTer2
NM_001122607.1:c.343dup NP_001116079.1:p.Ala115GlyfsTer2
NM_001754.4:c.424dup , LRG_482t1:c.424dup NP_001745.2:p.Ala142GlyfsTer2
XM_005261068.3:c.388dup XP_005261125.1:p.Ala130GlyfsTer2
XM_005261069.3:c.424dup XP_005261126.1:p.Ala142GlyfsTer2
XM_011529766.1:c.424dup XP_011528068.1:p.Ala142GlyfsTer2
XM_011529767.1:c.385dup XP_011528069.1:p.Ala129GlyfsTer2
XM_011529768.1:c.385dup XP_011528070.1:p.Ala129GlyfsTer2
XM_011529770.1:c.424dup XP_011528072.1:p.Ala142GlyfsTer2
XR_937576.1:n.603dup
XM_005261069.4:c.424dup XP_005261126.1:p.Ala142GlyfsTer2
XM_011529766.2:c.424dup XP_011528068.1:p.Ala142GlyfsTer2
XM_011529767.2:c.385dup XP_011528069.1:p.Ala129GlyfsTer2
XM_011529768.2:c.385dup XP_011528070.1:p.Ala129GlyfsTer2
XM_011529770.2:c.424dup XP_011528072.1:p.Ala142GlyfsTer2
XM_017028487.1:c.271dup XP_016883976.1:p.Ala91GlyfsTer2
XR_937576.2:n.650dup
NM_001001890.3:c.343dup NP_001001890.1:p.Ala115GlyfsTer2
NM_001122607.2:c.343dup NP_001116079.1:p.Ala115GlyfsTer2
NM_001754.5:c.424dup MANE Select NP_001745.2:p.Ala142GlyfsTer2