Canonical Allele Identifier: CA891842375
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880681_34880682dup , CM000683.2:g.34880681_34880682dup GRCh38
NC_000021.8:g.36252978_36252979dup , CM000683.1:g.36252978_36252979dup GRCh37
NC_000021.7:g.35174848_35174849dup NCBI36
NG_011402.2:g.1109032_1109033dup , LRG_482:g.1109032_1109033dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.385_386dup MANE Select ENSP00000501943.1:p.Val130TrpfsTer4
ENST00000300305.7:c.385_386dup ENSP00000300305.3:p.Val130TrpfsTer4
ENST00000344691.8:c.304_305dup ENSP00000340690.4:p.Val103TrpfsTer4
ENST00000358356.9:c.304_305dup ENSP00000351123.5:p.Val103TrpfsTer4
ENST00000399237.6:c.349_350dup ENSP00000382182.2:p.Val118TrpfsTer4
ENST00000399240.5:c.304_305dup ENSP00000382184.1:p.Val103TrpfsTer4
ENST00000437180.5:c.385_386dup ENSP00000409227.1:p.Val130TrpfsTer4
ENST00000455571.5:c.346_347dup ENSP00000388189.1:p.Val117TrpfsTer4
ENST00000482318.5:c.92_93dup ENSP00000477067.1:p.Gly32LeufsTer?
NM_001001890.2:c.304_305dup NP_001001890.1:p.Val103TrpfsTer4
NM_001122607.1:c.304_305dup NP_001116079.1:p.Val103TrpfsTer4
NM_001754.4:c.385_386dup , LRG_482t1:c.385_386dup NP_001745.2:p.Val130TrpfsTer4
XM_005261068.3:c.349_350dup XP_005261125.1:p.Val118TrpfsTer4
XM_005261069.3:c.385_386dup XP_005261126.1:p.Val130TrpfsTer4
XM_011529766.1:c.385_386dup XP_011528068.1:p.Val130TrpfsTer4
XM_011529767.1:c.346_347dup XP_011528069.1:p.Val117TrpfsTer4
XM_011529768.1:c.346_347dup XP_011528070.1:p.Val117TrpfsTer4
XM_011529770.1:c.385_386dup XP_011528072.1:p.Val130TrpfsTer4
XR_937576.1:n.564_565dup
XM_005261069.4:c.385_386dup XP_005261126.1:p.Val130TrpfsTer4
XM_011529766.2:c.385_386dup XP_011528068.1:p.Val130TrpfsTer4
XM_011529767.2:c.346_347dup XP_011528069.1:p.Val117TrpfsTer4
XM_011529768.2:c.346_347dup XP_011528070.1:p.Val117TrpfsTer4
XM_011529770.2:c.385_386dup XP_011528072.1:p.Val130TrpfsTer4
XM_017028487.1:c.232_233dup XP_016883976.1:p.Val79TrpfsTer4
XR_937576.2:n.611_612dup
NM_001001890.3:c.304_305dup NP_001001890.1:p.Val103TrpfsTer4
NM_001122607.2:c.304_305dup NP_001116079.1:p.Val103TrpfsTer4
NM_001754.5:c.385_386dup MANE Select NP_001745.2:p.Val130TrpfsTer4