Canonical Allele Identifier: CA512318741
Gene: RUNX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880643_34880644insC , CM000683.2:g.34880643_34880644insC GRCh38
NC_000021.8:g.36252940_36252941insC , CM000683.1:g.36252940_36252941insC GRCh37
NC_000021.7:g.35174810_35174811insC NCBI36
NG_011402.2:g.1109068_1109069insG , LRG_482:g.1109068_1109069insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.421_422insG MANE Select ENSP00000501943.1:p.Ser141CysfsTer3
ENST00000300305.7:c.421_422insG ENSP00000300305.3:p.Ser141CysfsTer3
ENST00000344691.8:c.340_341insG ENSP00000340690.4:p.Ser114CysfsTer3
ENST00000358356.9:c.340_341insG ENSP00000351123.5:p.Ser114CysfsTer3
ENST00000399237.6:c.385_386insG ENSP00000382182.2:p.Ser129CysfsTer3
ENST00000399240.5:c.340_341insG ENSP00000382184.1:p.Ser114CysfsTer3
ENST00000437180.5:c.421_422insG ENSP00000409227.1:p.Ser141CysfsTer3
ENST00000455571.5:c.382_383insG ENSP00000388189.1:p.Ser128CysfsTer3
ENST00000482318.5:c.*11_*12insG ENSP00000477067.1:n.*11_*12insG
NM_001001890.2:c.340_341insG NP_001001890.1:p.Ser114CysfsTer3
NM_001122607.1:c.340_341insG NP_001116079.1:p.Ser114CysfsTer3
NM_001754.4:c.421_422insG , LRG_482t1:c.421_422insG NP_001745.2:p.Ser141CysfsTer3
XM_005261068.3:c.385_386insG XP_005261125.1:p.Ser129CysfsTer3
XM_005261069.3:c.421_422insG XP_005261126.1:p.Ser141CysfsTer3
XM_011529766.1:c.421_422insG XP_011528068.1:p.Ser141CysfsTer3
XM_011529767.1:c.382_383insG XP_011528069.1:p.Ser128CysfsTer3
XM_011529768.1:c.382_383insG XP_011528070.1:p.Ser128CysfsTer3
XM_011529770.1:c.421_422insG XP_011528072.1:p.Ser141CysfsTer3
XR_937576.1:n.600_601insG
XM_005261069.4:c.421_422insG XP_005261126.1:p.Ser141CysfsTer3
XM_011529766.2:c.421_422insG XP_011528068.1:p.Ser141CysfsTer3
XM_011529767.2:c.382_383insG XP_011528069.1:p.Ser128CysfsTer3
XM_011529768.2:c.382_383insG XP_011528070.1:p.Ser128CysfsTer3
XM_011529770.2:c.421_422insG XP_011528072.1:p.Ser141CysfsTer3
XM_017028487.1:c.268_269insG XP_016883976.1:p.Ser90CysfsTer3
XR_937576.2:n.647_648insG
NM_001001890.3:c.340_341insG NP_001001890.1:p.Ser114CysfsTer3
NM_001122607.2:c.340_341insG NP_001116079.1:p.Ser114CysfsTer3
NM_001754.5:c.421_422insG MANE Select NP_001745.2:p.Ser141CysfsTer3