Canonical Allele Identifier: CA2580611938
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880645_34880646insA , CM000683.2:g.34880645_34880646insA GRCh38
NC_000021.8:g.36252942_36252943insA , CM000683.1:g.36252942_36252943insA GRCh37
NC_000021.7:g.35174812_35174813insA NCBI36
NG_011402.2:g.1109066_1109067insT , LRG_482:g.1109066_1109067insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.419_420insT MANE Select ENSP00000501943.1:p.Ser141LeufsTer3
ENST00000300305.7:c.419_420insT ENSP00000300305.3:p.Ser141LeufsTer3
ENST00000344691.8:c.338_339insT ENSP00000340690.4:p.Ser114LeufsTer3
ENST00000358356.9:c.338_339insT ENSP00000351123.5:p.Ser114LeufsTer3
ENST00000399237.6:c.383_384insT ENSP00000382182.2:p.Ser129LeufsTer3
ENST00000399240.5:c.338_339insT ENSP00000382184.1:p.Ser114LeufsTer3
ENST00000437180.5:c.419_420insT ENSP00000409227.1:p.Ser141LeufsTer3
ENST00000455571.5:c.380_381insT ENSP00000388189.1:p.Ser128LeufsTer3
ENST00000482318.5:c.*9_*10insT ENSP00000477067.1:n.*9_*10insT
NM_001001890.2:c.338_339insT NP_001001890.1:p.Ser114LeufsTer3
NM_001122607.1:c.338_339insT NP_001116079.1:p.Ser114LeufsTer3
NM_001754.4:c.419_420insT , LRG_482t1:c.419_420insT NP_001745.2:p.Ser141LeufsTer3
XM_005261068.3:c.383_384insT XP_005261125.1:p.Ser129LeufsTer3
XM_005261069.3:c.419_420insT XP_005261126.1:p.Ser141LeufsTer3
XM_011529766.1:c.419_420insT XP_011528068.1:p.Ser141LeufsTer3
XM_011529767.1:c.380_381insT XP_011528069.1:p.Ser128LeufsTer3
XM_011529768.1:c.380_381insT XP_011528070.1:p.Ser128LeufsTer3
XM_011529770.1:c.419_420insT XP_011528072.1:p.Ser141LeufsTer3
XR_937576.1:n.598_599insT
XM_005261069.4:c.419_420insT XP_005261126.1:p.Ser141LeufsTer3
XM_011529766.2:c.419_420insT XP_011528068.1:p.Ser141LeufsTer3
XM_011529767.2:c.380_381insT XP_011528069.1:p.Ser128LeufsTer3
XM_011529768.2:c.380_381insT XP_011528070.1:p.Ser128LeufsTer3
XM_011529770.2:c.419_420insT XP_011528072.1:p.Ser141LeufsTer3
XM_017028487.1:c.266_267insT XP_016883976.1:p.Ser90LeufsTer3
XR_937576.2:n.645_646insT
NM_001001890.3:c.338_339insT NP_001001890.1:p.Ser114LeufsTer3
NM_001122607.2:c.338_339insT NP_001116079.1:p.Ser114LeufsTer3
NM_001754.5:c.419_420insT MANE Select NP_001745.2:p.Ser141LeufsTer3