Canonical Allele Identifier: CA2499225882
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1073521
ClinVar RCV Id: RCV001386548 RCV002264785
dbSNP Id: rs2146410489
ERepo: CA2499225882/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886940_34886941insCCCC , CM000683.2:g.34886940_34886941insCCCC GRCh38
NC_000021.8:g.36259237_36259238insCCCC , CM000683.1:g.36259237_36259238insCCCC GRCh37
NC_000021.7:g.35181107_35181108insCCCC NCBI36
NG_011402.2:g.1102771_1102772insGGGG , LRG_482:g.1102771_1102772insGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.253_254insGGGG MANE Select ENSP00000501943.1:p.His85ArgfsTer?
ENST00000300305.7:c.253_254insGGGG ENSP00000300305.3:p.His85ArgfsTer?
ENST00000344691.8:c.172_173insGGGG ENSP00000340690.4:p.His58ArgfsTer?
ENST00000358356.9:c.172_173insGGGG ENSP00000351123.5:p.His58ArgfsTer?
ENST00000399237.6:c.217_218insGGGG ENSP00000382182.2:p.His73ArgfsTer?
ENST00000399240.5:c.172_173insGGGG ENSP00000382184.1:p.His58ArgfsTer?
ENST00000437180.5:c.253_254insGGGG ENSP00000409227.1:p.His85ArgfsTer?
ENST00000455571.5:c.214_215insGGGG ENSP00000388189.1:p.His72ArgfsTer?
ENST00000482318.5:c.59-6228_59-6227insGGGG ENSP00000477067.1:n.59-6228_59-6227insGGGG
NM_001001890.2:c.172_173insGGGG NP_001001890.1:p.His58ArgfsTer?
NM_001122607.1:c.172_173insGGGG NP_001116079.1:p.His58ArgfsTer?
NM_001754.4:c.253_254insGGGG , LRG_482t1:c.253_254insGGGG NP_001745.2:p.His85ArgfsTer?
XM_005261068.3:c.217_218insGGGG XP_005261125.1:p.His73ArgfsTer?
XM_005261069.3:c.253_254insGGGG XP_005261126.1:p.His85ArgfsTer?
XM_011529766.1:c.253_254insGGGG XP_011528068.1:p.His85ArgfsTer?
XM_011529767.1:c.214_215insGGGG XP_011528069.1:p.His72ArgfsTer?
XM_011529768.1:c.214_215insGGGG XP_011528070.1:p.His72ArgfsTer?
XM_011529770.1:c.253_254insGGGG XP_011528072.1:p.His85ArgfsTer?
XR_937576.1:n.432_433insGGGG
XM_005261069.4:c.253_254insGGGG XP_005261126.1:p.His85ArgfsTer?
XM_011529766.2:c.253_254insGGGG XP_011528068.1:p.His85ArgfsTer?
XM_011529767.2:c.214_215insGGGG XP_011528069.1:p.His72ArgfsTer?
XM_011529768.2:c.214_215insGGGG XP_011528070.1:p.His72ArgfsTer?
XM_011529770.2:c.253_254insGGGG XP_011528072.1:p.His85ArgfsTer?
XM_017028487.1:c.100_101insGGGG XP_016883976.1:p.His34ArgfsTer?
XR_937576.2:n.479_480insGGGG
NM_001001890.3:c.172_173insGGGG NP_001001890.1:p.His58ArgfsTer?
NM_001122607.2:c.172_173insGGGG NP_001116079.1:p.His58ArgfsTer?
NM_001754.5:c.253_254insGGGG MANE Select NP_001745.2:p.His85ArgfsTer?
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