Canonical Allele Identifier: CA891842369
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880609_34880610dup , CM000683.2:g.34880609_34880610dup GRCh38
NC_000021.8:g.36252906_36252907dup , CM000683.1:g.36252906_36252907dup GRCh37
NC_000021.7:g.35174776_35174777dup NCBI36
NG_011402.2:g.1109103_1109104dup , LRG_482:g.1109103_1109104dup

Transcript Alleles

HGVS Amino-acid change
ENST00000675419.1:c.456_457dup MANE Select ENSP00000501943.1:p.Asn153ArgfsTer24
ENST00000300305.7:c.456_457dup ENSP00000300305.3:p.Asn153ArgfsTer24
ENST00000344691.8:c.375_376dup ENSP00000340690.4:p.Asn126ArgfsTer24
ENST00000358356.9:c.375_376dup ENSP00000351123.5:p.Asn126ArgfsTer24
ENST00000399237.6:c.420_421dup ENSP00000382182.2:p.Asn141ArgfsTer24
ENST00000399240.5:c.375_376dup ENSP00000382184.1:p.Asn126ArgfsTer24
ENST00000437180.5:c.456_457dup ENSP00000409227.1:p.Asn153ArgfsTer24
ENST00000455571.5:c.417_418dup ENSP00000388189.1:p.Asn140ArgfsTer?
ENST00000482318.5:c.*46_*47dup ENSP00000477067.1:n.*46_*47dup
NM_001001890.2:c.375_376dup NP_001001890.1:p.Asn126ArgfsTer24
NM_001122607.1:c.375_376dup NP_001116079.1:p.Asn126ArgfsTer24
NM_001754.4:c.456_457dup , LRG_482t1:c.456_457dup NP_001745.2:p.Asn153ArgfsTer24
XM_005261068.3:c.420_421dup XP_005261125.1:p.Asn141ArgfsTer24
XM_005261069.3:c.456_457dup XP_005261126.1:p.Asn153ArgfsTer24
XM_011529766.1:c.456_457dup XP_011528068.1:p.Asn153ArgfsTer24
XM_011529767.1:c.417_418dup XP_011528069.1:p.Asn140ArgfsTer24
XM_011529768.1:c.417_418dup XP_011528070.1:p.Asn140ArgfsTer24
XM_011529770.1:c.456_457dup XP_011528072.1:p.Asn153ArgfsTer24
XR_937576.1:n.635_636dup
XM_005261069.4:c.456_457dup XP_005261126.1:p.Asn153ArgfsTer24
XM_011529766.2:c.456_457dup XP_011528068.1:p.Asn153ArgfsTer24
XM_011529767.2:c.417_418dup XP_011528069.1:p.Asn140ArgfsTer24
XM_011529768.2:c.417_418dup XP_011528070.1:p.Asn140ArgfsTer24
XM_011529770.2:c.456_457dup XP_011528072.1:p.Asn153ArgfsTer24
XM_017028487.1:c.303_304dup XP_016883976.1:p.Asn102ArgfsTer24
XR_937576.2:n.682_683dup
NM_001001890.3:c.375_376dup NP_001001890.1:p.Asn126ArgfsTer24
NM_001122607.2:c.375_376dup NP_001116079.1:p.Asn126ArgfsTer24
NM_001754.5:c.456_457dup MANE Select NP_001745.2:p.Asn153ArgfsTer24