Canonical Allele Identifier: CA2697547499
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2757098
ClinVar RCV Id: RCV003515158

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886966dup , CM000683.2:g.34886966dup GRCh38
NC_000021.8:g.36259263dup , CM000683.1:g.36259263dup GRCh37
NC_000021.7:g.35181133dup NCBI36
NG_011402.2:g.1102746dup , LRG_482:g.1102746dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.228dup MANE Select ENSP00000501943.1:p.Ser77GlnfsTer?
ENST00000300305.7:c.228dup ENSP00000300305.3:p.Ser77GlnfsTer?
ENST00000344691.8:c.147dup ENSP00000340690.4:p.Ser50GlnfsTer?
ENST00000358356.9:c.147dup ENSP00000351123.5:p.Ser50GlnfsTer?
ENST00000399237.6:c.192dup ENSP00000382182.2:p.Ser65GlnfsTer?
ENST00000399240.5:c.147dup ENSP00000382184.1:p.Ser50GlnfsTer?
ENST00000437180.5:c.228dup ENSP00000409227.1:p.Ser77GlnfsTer?
ENST00000455571.5:c.189dup ENSP00000388189.1:p.Ser64GlnfsTer?
ENST00000482318.5:c.59-6253dup ENSP00000477067.1:n.59-6253dup
NM_001001890.2:c.147dup NP_001001890.1:p.Ser50GlnfsTer?
NM_001122607.1:c.147dup NP_001116079.1:p.Ser50GlnfsTer?
NM_001754.4:c.228dup , LRG_482t1:c.228dup NP_001745.2:p.Ser77GlnfsTer?
XM_005261068.3:c.192dup XP_005261125.1:p.Ser65GlnfsTer?
XM_005261069.3:c.228dup XP_005261126.1:p.Ser77GlnfsTer?
XM_011529766.1:c.228dup XP_011528068.1:p.Ser77GlnfsTer?
XM_011529767.1:c.189dup XP_011528069.1:p.Ser64GlnfsTer?
XM_011529768.1:c.189dup XP_011528070.1:p.Ser64GlnfsTer?
XM_011529770.1:c.228dup XP_011528072.1:p.Ser77GlnfsTer?
XR_937576.1:n.407dup
XM_005261069.4:c.228dup XP_005261126.1:p.Ser77GlnfsTer?
XM_011529766.2:c.228dup XP_011528068.1:p.Ser77GlnfsTer?
XM_011529767.2:c.189dup XP_011528069.1:p.Ser64GlnfsTer?
XM_011529768.2:c.189dup XP_011528070.1:p.Ser64GlnfsTer?
XM_011529770.2:c.228dup XP_011528072.1:p.Ser77GlnfsTer?
XM_017028487.1:c.75dup XP_016883976.1:p.Ser26GlnfsTer?
XR_937576.2:n.454dup
NM_001001890.3:c.147dup NP_001001890.1:p.Ser50GlnfsTer?
NM_001122607.2:c.147dup NP_001116079.1:p.Ser50GlnfsTer?
NM_001754.5:c.228dup MANE Select NP_001745.2:p.Ser77GlnfsTer?