Canonical Allele Identifier: CA512318639
Gene: RUNX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880560_34880561insA , CM000683.2:g.34880560_34880561insA GRCh38
NC_000021.8:g.36252857_36252858insA , CM000683.1:g.36252857_36252858insA GRCh37
NC_000021.7:g.35174727_35174728insA NCBI36
NG_011402.2:g.1109151_1109152insT , LRG_482:g.1109151_1109152insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.504_505insT MANE Select ENSP00000501943.1:p.Arg169Ter
ENST00000300305.7:c.504_505insT ENSP00000300305.3:p.Arg169Ter
ENST00000344691.8:c.423_424insT ENSP00000340690.4:p.Arg142Ter
ENST00000358356.9:c.423_424insT ENSP00000351123.5:p.Arg142Ter
ENST00000399237.6:c.468_469insT ENSP00000382182.2:p.Arg157Ter
ENST00000399240.5:c.423_424insT ENSP00000382184.1:p.Arg142Ter
ENST00000437180.5:c.504_505insT ENSP00000409227.1:p.Arg169Ter
ENST00000482318.5:c.*94_*95insT ENSP00000477067.1:n.*94_*95insT
NM_001001890.2:c.423_424insT NP_001001890.1:p.Arg142Ter
NM_001122607.1:c.423_424insT NP_001116079.1:p.Arg142Ter
NM_001754.4:c.504_505insT , LRG_482t1:c.504_505insT NP_001745.2:p.Arg169Ter
XM_005261068.3:c.468_469insT XP_005261125.1:p.Arg157Ter
XM_005261069.3:c.504_505insT XP_005261126.1:p.Arg169Ter
XM_011529766.1:c.504_505insT XP_011528068.1:p.Arg169Ter
XM_011529767.1:c.465_466insT XP_011528069.1:p.Arg156Ter
XM_011529768.1:c.465_466insT XP_011528070.1:p.Arg156Ter
XM_011529770.1:c.504_505insT XP_011528072.1:p.Arg169Ter
XR_937576.1:n.683_684insT
XM_005261069.4:c.504_505insT XP_005261126.1:p.Arg169Ter
XM_011529766.2:c.504_505insT XP_011528068.1:p.Arg169Ter
XM_011529767.2:c.465_466insT XP_011528069.1:p.Arg156Ter
XM_011529768.2:c.465_466insT XP_011528070.1:p.Arg156Ter
XM_011529770.2:c.504_505insT XP_011528072.1:p.Arg169Ter
XM_017028487.1:c.351_352insT XP_016883976.1:p.Arg118Ter
XR_937576.2:n.730_731insT
NM_001001890.3:c.423_424insT NP_001001890.1:p.Arg142Ter
NM_001122607.2:c.423_424insT NP_001116079.1:p.Arg142Ter
NM_001754.5:c.504_505insT MANE Select NP_001745.2:p.Arg169Ter