Canonical Allele Identifier: CA645607320
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1996224
ClinVar RCV Id: RCV002823682

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880561dup , CM000683.2:g.34880561dup GRCh38
NC_000021.8:g.36252858dup , CM000683.1:g.36252858dup GRCh37
NC_000021.7:g.35174728dup NCBI36
NG_011402.2:g.1109152dup , LRG_482:g.1109152dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.505dup MANE Select ENSP00000501943.1:p.Arg169LysfsTer?
ENST00000300305.7:c.505dup ENSP00000300305.3:p.Arg169LysfsTer?
ENST00000344691.8:c.424dup ENSP00000340690.4:p.Arg142LysfsTer?
ENST00000358356.9:c.424dup ENSP00000351123.5:p.Arg142LysfsTer?
ENST00000399237.6:c.469dup ENSP00000382182.2:p.Arg157LysfsTer?
ENST00000399240.5:c.424dup ENSP00000382184.1:p.Arg142LysfsTer?
ENST00000437180.5:c.505dup ENSP00000409227.1:p.Arg169LysfsTer?
ENST00000482318.5:c.*95dup ENSP00000477067.1:n.*95dup
NM_001001890.2:c.424dup NP_001001890.1:p.Arg142LysfsTer?
NM_001122607.1:c.424dup NP_001116079.1:p.Arg142LysfsTer?
NM_001754.4:c.505dup , LRG_482t1:c.505dup NP_001745.2:p.Arg169LysfsTer?
XM_005261068.3:c.469dup XP_005261125.1:p.Arg157LysfsTer?
XM_005261069.3:c.505dup XP_005261126.1:p.Arg169LysfsTer?
XM_011529766.1:c.505dup XP_011528068.1:p.Arg169LysfsTer?
XM_011529767.1:c.466dup XP_011528069.1:p.Arg156LysfsTer?
XM_011529768.1:c.466dup XP_011528070.1:p.Arg156LysfsTer?
XM_011529770.1:c.505dup XP_011528072.1:p.Arg169LysfsTer?
XR_937576.1:n.684dup
XM_005261069.4:c.505dup XP_005261126.1:p.Arg169LysfsTer?
XM_011529766.2:c.505dup XP_011528068.1:p.Arg169LysfsTer?
XM_011529767.2:c.466dup XP_011528069.1:p.Arg156LysfsTer?
XM_011529768.2:c.466dup XP_011528070.1:p.Arg156LysfsTer?
XM_011529770.2:c.505dup XP_011528072.1:p.Arg169LysfsTer?
XM_017028487.1:c.352dup XP_016883976.1:p.Arg118LysfsTer?
XR_937576.2:n.731dup
NM_001001890.3:c.424dup NP_001001890.1:p.Arg142LysfsTer?
NM_001122607.2:c.424dup NP_001116079.1:p.Arg142LysfsTer?
NM_001754.5:c.505dup MANE Select NP_001745.2:p.Arg169LysfsTer?