Canonical Allele Identifier: CA915952644
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 647118
ClinVar RCV Id: RCV000801548 RCV003448349
dbSNP Id: rs1601528701
ERepo: CA915952644/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886895_34886905delinsCAGCGGAAGGAG , CM000683.2:g.34886895_34886905delinsCAGCGGAAGGAG GRCh38
NC_000021.8:g.36259192_36259202delinsCAGCGGAAGGAG , CM000683.1:g.36259192_36259202delinsCAGCGGAAGGAG GRCh37
NC_000021.7:g.35181062_35181072delinsCAGCGGAAGGAG NCBI36
NG_011402.2:g.1102807_1102817delinsCTCCTTCCGCTG , LRG_482:g.1102807_1102817delinsCTCCTTCCGCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.289_299delinsCTCCTTCCGCTG MANE Select ENSP00000501943.1:p.Phe97LeufsTer?
ENST00000300305.7:c.289_299delinsCTCCTTCCGCTG ENSP00000300305.3:p.Phe97LeufsTer?
ENST00000344691.8:c.208_218delinsCTCCTTCCGCTG ENSP00000340690.4:p.Phe70LeufsTer?
ENST00000358356.9:c.208_218delinsCTCCTTCCGCTG ENSP00000351123.5:p.Phe70LeufsTer?
ENST00000399237.6:c.253_263delinsCTCCTTCCGCTG ENSP00000382182.2:p.Phe85LeufsTer?
ENST00000399240.5:c.208_218delinsCTCCTTCCGCTG ENSP00000382184.1:p.Phe70LeufsTer?
ENST00000437180.5:c.289_299delinsCTCCTTCCGCTG ENSP00000409227.1:p.Phe97LeufsTer?
ENST00000455571.5:c.250_260delinsCTCCTTCCGCTG ENSP00000388189.1:p.Phe84LeufsTer?
ENST00000482318.5:c.59-6192_59-6182delinsCTCCTTCCGCTG ENSP00000477067.1:n.59-6192_59-6182delinsCTCCTTCCGCTG
NM_001001890.2:c.208_218delinsCTCCTTCCGCTG NP_001001890.1:p.Phe70LeufsTer?
NM_001122607.1:c.208_218delinsCTCCTTCCGCTG NP_001116079.1:p.Phe70LeufsTer?
NM_001754.4:c.289_299delinsCTCCTTCCGCTG , LRG_482t1:c.289_299delinsCTCCTTCCGCTG NP_001745.2:p.Phe97LeufsTer?
XM_005261068.3:c.253_263delinsCTCCTTCCGCTG XP_005261125.1:p.Phe85LeufsTer?
XM_005261069.3:c.289_299delinsCTCCTTCCGCTG XP_005261126.1:p.Phe97LeufsTer?
XM_011529766.1:c.289_299delinsCTCCTTCCGCTG XP_011528068.1:p.Phe97LeufsTer?
XM_011529767.1:c.250_260delinsCTCCTTCCGCTG XP_011528069.1:p.Phe84LeufsTer?
XM_011529768.1:c.250_260delinsCTCCTTCCGCTG XP_011528070.1:p.Phe84LeufsTer?
XM_011529770.1:c.289_299delinsCTCCTTCCGCTG XP_011528072.1:p.Phe97LeufsTer?
XR_937576.1:n.468_478delinsCTCCTTCCGCTG
XM_005261069.4:c.289_299delinsCTCCTTCCGCTG XP_005261126.1:p.Phe97LeufsTer?
XM_011529766.2:c.289_299delinsCTCCTTCCGCTG XP_011528068.1:p.Phe97LeufsTer?
XM_011529767.2:c.250_260delinsCTCCTTCCGCTG XP_011528069.1:p.Phe84LeufsTer?
XM_011529768.2:c.250_260delinsCTCCTTCCGCTG XP_011528070.1:p.Phe84LeufsTer?
XM_011529770.2:c.289_299delinsCTCCTTCCGCTG XP_011528072.1:p.Phe97LeufsTer?
XM_017028487.1:c.136_146delinsCTCCTTCCGCTG XP_016883976.1:p.Phe46LeufsTer?
XR_937576.2:n.515_525delinsCTCCTTCCGCTG
NM_001001890.3:c.208_218delinsCTCCTTCCGCTG NP_001001890.1:p.Phe70LeufsTer?
NM_001122607.2:c.208_218delinsCTCCTTCCGCTG NP_001116079.1:p.Phe70LeufsTer?
NM_001754.5:c.289_299delinsCTCCTTCCGCTG MANE Select NP_001745.2:p.Phe97LeufsTer?
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