Canonical Allele Identifier: CA658824417
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 561244
dbSNP Id: rs1569078774

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880558_34880562dup , CM000683.2:g.34880558_34880562dup GRCh38
NC_000021.8:g.36252855_36252859dup , CM000683.1:g.36252855_36252859dup GRCh37
NC_000021.7:g.35174725_35174729dup NCBI36
NG_011402.2:g.1109151_1109155dup , LRG_482:g.1109151_1109155dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.504_508dup MANE Select ENSP00000501943.1:p.Gly170GlufsTer8
ENST00000300305.7:c.504_508dup ENSP00000300305.3:p.Gly170GlufsTer8
ENST00000344691.8:c.423_427dup ENSP00000340690.4:p.Gly143GlufsTer8
ENST00000358356.9:c.423_427dup ENSP00000351123.5:p.Gly143GlufsTer8
ENST00000399237.6:c.468_472dup ENSP00000382182.2:p.Gly158GlufsTer8
ENST00000399240.5:c.423_427dup ENSP00000382184.1:p.Gly143GlufsTer8
ENST00000437180.5:c.504_508dup ENSP00000409227.1:p.Gly170GlufsTer8
ENST00000482318.5:c.*94_*98dup ENSP00000477067.1:n.*94_*98dup
NM_001001890.2:c.423_427dup NP_001001890.1:p.Gly143GlufsTer8
NM_001122607.1:c.423_427dup NP_001116079.1:p.Gly143GlufsTer8
NM_001754.4:c.504_508dup , LRG_482t1:c.504_508dup NP_001745.2:p.Gly170GlufsTer8
XM_005261068.3:c.468_472dup XP_005261125.1:p.Gly158GlufsTer8
XM_005261069.3:c.504_508dup XP_005261126.1:p.Gly170GlufsTer8
XM_011529766.1:c.504_508dup XP_011528068.1:p.Gly170GlufsTer8
XM_011529767.1:c.465_469dup XP_011528069.1:p.Gly157GlufsTer8
XM_011529768.1:c.465_469dup XP_011528070.1:p.Gly157GlufsTer8
XM_011529770.1:c.504_508dup XP_011528072.1:p.Gly170GlufsTer8
XR_937576.1:n.683_687dup
XM_005261069.4:c.504_508dup XP_005261126.1:p.Gly170GlufsTer8
XM_011529766.2:c.504_508dup XP_011528068.1:p.Gly170GlufsTer8
XM_011529767.2:c.465_469dup XP_011528069.1:p.Gly157GlufsTer8
XM_011529768.2:c.465_469dup XP_011528070.1:p.Gly157GlufsTer8
XM_011529770.2:c.504_508dup XP_011528072.1:p.Gly170GlufsTer8
XM_017028487.1:c.351_355dup XP_016883976.1:p.Gly119GlufsTer8
XR_937576.2:n.730_734dup
NM_001001890.3:c.423_427dup NP_001001890.1:p.Gly143GlufsTer8
NM_001122607.2:c.423_427dup NP_001116079.1:p.Gly143GlufsTer8
NM_001754.5:c.504_508dup MANE Select NP_001745.2:p.Gly170GlufsTer8