Canonical Allele Identifier: CA2739267616
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2820865
ClinVar RCV Id: RCV003630421
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880654dup , CM000683.2:g.34880654dup GRCh38
NC_000021.8:g.36252951dup , CM000683.1:g.36252951dup GRCh37
NC_000021.7:g.35174821dup NCBI36
NG_011402.2:g.1109058dup , LRG_482:g.1109058dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.411dup MANE Select ENSP00000501943.1:p.Glu138Ter
ENST00000300305.7:c.411dup ENSP00000300305.3:p.Glu138Ter
ENST00000344691.8:c.330dup ENSP00000340690.4:p.Glu111Ter
ENST00000358356.9:c.330dup ENSP00000351123.5:p.Glu111Ter
ENST00000399237.6:c.375dup ENSP00000382182.2:p.Glu126Ter
ENST00000399240.5:c.330dup ENSP00000382184.1:p.Glu111Ter
ENST00000437180.5:c.411dup ENSP00000409227.1:p.Glu138Ter
ENST00000455571.5:c.372dup ENSP00000388189.1:p.Glu125Ter
ENST00000482318.5:c.*1dup ENSP00000477067.1:n.*1dup
NM_001001890.2:c.330dup NP_001001890.1:p.Glu111Ter
NM_001122607.1:c.330dup NP_001116079.1:p.Glu111Ter
NM_001754.4:c.411dup , LRG_482t1:c.411dup NP_001745.2:p.Glu138Ter
XM_005261068.3:c.375dup XP_005261125.1:p.Glu126Ter
XM_005261069.3:c.411dup XP_005261126.1:p.Glu138Ter
XM_011529766.1:c.411dup XP_011528068.1:p.Glu138Ter
XM_011529767.1:c.372dup XP_011528069.1:p.Glu125Ter
XM_011529768.1:c.372dup XP_011528070.1:p.Glu125Ter
XM_011529770.1:c.411dup XP_011528072.1:p.Glu138Ter
XR_937576.1:n.590dup
XM_005261069.4:c.411dup XP_005261126.1:p.Glu138Ter
XM_011529766.2:c.411dup XP_011528068.1:p.Glu138Ter
XM_011529767.2:c.372dup XP_011528069.1:p.Glu125Ter
XM_011529768.2:c.372dup XP_011528070.1:p.Glu125Ter
XM_011529770.2:c.411dup XP_011528072.1:p.Glu138Ter
XM_017028487.1:c.258dup XP_016883976.1:p.Glu87Ter
XR_937576.2:n.637dup
NM_001001890.3:c.330dup NP_001001890.1:p.Glu111Ter
NM_001122607.2:c.330dup NP_001116079.1:p.Glu111Ter
NM_001754.5:c.411dup MANE Select NP_001745.2:p.Glu138Ter
Search 100 bp 5'
Search 100 bp 3'