Canonical Allele Identifier: CA2387294377
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2057889957
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880702dup , CM000683.2:g.34880702dup GRCh38
NC_000021.8:g.36252999dup , CM000683.1:g.36252999dup GRCh37
NC_000021.7:g.35174869dup NCBI36
NG_011402.2:g.1109010dup , LRG_482:g.1109010dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.363dup MANE Select ENSP00000501943.1:p.Gly122ArgfsTer16
ENST00000300305.7:c.363dup ENSP00000300305.3:p.Gly122ArgfsTer16
ENST00000344691.8:c.282dup ENSP00000340690.4:p.Gly95ArgfsTer16
ENST00000358356.9:c.282dup ENSP00000351123.5:p.Gly95ArgfsTer16
ENST00000399237.6:c.327dup ENSP00000382182.2:p.Gly110ArgfsTer16
ENST00000399240.5:c.282dup ENSP00000382184.1:p.Gly95ArgfsTer16
ENST00000437180.5:c.363dup ENSP00000409227.1:p.Gly122ArgfsTer16
ENST00000455571.5:c.324dup ENSP00000388189.1:p.Gly109ArgfsTer16
ENST00000482318.5:c.70dup ENSP00000477067.1:p.Arg24LysfsTer12
NM_001001890.2:c.282dup NP_001001890.1:p.Gly95ArgfsTer16
NM_001122607.1:c.282dup NP_001116079.1:p.Gly95ArgfsTer16
NM_001754.4:c.363dup , LRG_482t1:c.363dup NP_001745.2:p.Gly122ArgfsTer16
XM_005261068.3:c.327dup XP_005261125.1:p.Gly110ArgfsTer16
XM_005261069.3:c.363dup XP_005261126.1:p.Gly122ArgfsTer16
XM_011529766.1:c.363dup XP_011528068.1:p.Gly122ArgfsTer16
XM_011529767.1:c.324dup XP_011528069.1:p.Gly109ArgfsTer16
XM_011529768.1:c.324dup XP_011528070.1:p.Gly109ArgfsTer16
XM_011529770.1:c.363dup XP_011528072.1:p.Gly122ArgfsTer16
XR_937576.1:n.542dup
XM_005261069.4:c.363dup XP_005261126.1:p.Gly122ArgfsTer16
XM_011529766.2:c.363dup XP_011528068.1:p.Gly122ArgfsTer16
XM_011529767.2:c.324dup XP_011528069.1:p.Gly109ArgfsTer16
XM_011529768.2:c.324dup XP_011528070.1:p.Gly109ArgfsTer16
XM_011529770.2:c.363dup XP_011528072.1:p.Gly122ArgfsTer16
XM_017028487.1:c.210dup XP_016883976.1:p.Gly71ArgfsTer16
XR_937576.2:n.589dup
NM_001001890.3:c.282dup NP_001001890.1:p.Gly95ArgfsTer16
NM_001122607.2:c.282dup NP_001116079.1:p.Gly95ArgfsTer16
NM_001754.5:c.363dup MANE Select NP_001745.2:p.Gly122ArgfsTer16
Search 100 bp 5'
Search 100 bp 3'