Canonical Allele Identifier: CA2695201454
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2632141
ClinVar RCV Id: RCV003416650

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887009_34887012dup , CM000683.2:g.34887009_34887012dup GRCh38
NC_000021.8:g.36259306_36259309dup , CM000683.1:g.36259306_36259309dup GRCh37
NC_000021.7:g.35181176_35181179dup NCBI36
NG_011402.2:g.1102702_1102705dup , LRG_482:g.1102702_1102705dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.184_187dup MANE Select ENSP00000501943.1:p.Ala63GlyfsTer?
ENST00000300305.7:c.184_187dup ENSP00000300305.3:p.Ala63GlyfsTer?
ENST00000344691.8:c.103_106dup ENSP00000340690.4:p.Ala36GlyfsTer?
ENST00000358356.9:c.103_106dup ENSP00000351123.5:p.Ala36GlyfsTer?
ENST00000399237.6:c.148_151dup ENSP00000382182.2:p.Ala51GlyfsTer?
ENST00000399240.5:c.103_106dup ENSP00000382184.1:p.Ala36GlyfsTer?
ENST00000437180.5:c.184_187dup ENSP00000409227.1:p.Ala63GlyfsTer?
ENST00000455571.5:c.145_148dup ENSP00000388189.1:p.Ala50GlyfsTer?
ENST00000482318.5:c.59-6297_59-6294dup ENSP00000477067.1:n.59-6297_59-6294dup
NM_001001890.2:c.103_106dup NP_001001890.1:p.Ala36GlyfsTer?
NM_001122607.1:c.103_106dup NP_001116079.1:p.Ala36GlyfsTer?
NM_001754.4:c.184_187dup , LRG_482t1:c.184_187dup NP_001745.2:p.Ala63GlyfsTer?
XM_005261068.3:c.148_151dup XP_005261125.1:p.Ala51GlyfsTer?
XM_005261069.3:c.184_187dup XP_005261126.1:p.Ala63GlyfsTer?
XM_011529766.1:c.184_187dup XP_011528068.1:p.Ala63GlyfsTer?
XM_011529767.1:c.145_148dup XP_011528069.1:p.Ala50GlyfsTer?
XM_011529768.1:c.145_148dup XP_011528070.1:p.Ala50GlyfsTer?
XM_011529770.1:c.184_187dup XP_011528072.1:p.Ala63GlyfsTer?
XR_937576.1:n.363_366dup
XM_005261069.4:c.184_187dup XP_005261126.1:p.Ala63GlyfsTer?
XM_011529766.2:c.184_187dup XP_011528068.1:p.Ala63GlyfsTer?
XM_011529767.2:c.145_148dup XP_011528069.1:p.Ala50GlyfsTer?
XM_011529768.2:c.145_148dup XP_011528070.1:p.Ala50GlyfsTer?
XM_011529770.2:c.184_187dup XP_011528072.1:p.Ala63GlyfsTer?
XM_017028487.1:c.31_34dup XP_016883976.1:p.Ala12GlyfsTer?
XR_937576.2:n.410_413dup
NM_001001890.3:c.103_106dup NP_001001890.1:p.Ala36GlyfsTer?
NM_001122607.2:c.103_106dup NP_001116079.1:p.Ala36GlyfsTer?
NM_001754.5:c.184_187dup MANE Select NP_001745.2:p.Ala63GlyfsTer?