Canonical Allele Identifier: CA891844470
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 571388
ClinVar RCV Id: RCV000692523 RCV001376068
dbSNP Id: rs1569084530
MyVariant Identifiers: chr21:g.36259298_36259325dup (hg19) chr21:g.34887001_34887028dup (hg38)
ERepo: CA891844470/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887005_34887032dup , CM000683.2:g.34887005_34887032dup GRCh38
NC_000021.8:g.36259302_36259329dup , CM000683.1:g.36259302_36259329dup GRCh37
NC_000021.7:g.35181172_35181199dup NCBI36
NG_011402.2:g.1102684_1102711dup , LRG_482:g.1102684_1102711dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.166_193dup MANE Select ENSP00000501943.1:p.Ala65ValfsTer?
ENST00000300305.7:c.166_193dup ENSP00000300305.3:p.Ala65ValfsTer?
ENST00000344691.8:c.85_112dup ENSP00000340690.4:p.Ala38ValfsTer?
ENST00000358356.9:c.85_112dup ENSP00000351123.5:p.Ala38ValfsTer?
ENST00000399237.6:c.130_157dup ENSP00000382182.2:p.Ala53ValfsTer?
ENST00000399240.5:c.85_112dup ENSP00000382184.1:p.Ala38ValfsTer?
ENST00000437180.5:c.166_193dup ENSP00000409227.1:p.Ala65ValfsTer?
ENST00000455571.5:c.127_154dup ENSP00000388189.1:p.Ala52ValfsTer?
ENST00000482318.5:c.59-6315_59-6288dup ENSP00000477067.1:n.59-6315_59-6288dup
NM_001001890.2:c.85_112dup NP_001001890.1:p.Ala38ValfsTer?
NM_001122607.1:c.85_112dup NP_001116079.1:p.Ala38ValfsTer?
NM_001754.4:c.166_193dup , LRG_482t1:c.166_193dup NP_001745.2:p.Ala65ValfsTer?
XM_005261068.3:c.130_157dup XP_005261125.1:p.Ala53ValfsTer?
XM_005261069.3:c.166_193dup XP_005261126.1:p.Ala65ValfsTer?
XM_011529766.1:c.166_193dup XP_011528068.1:p.Ala65ValfsTer?
XM_011529767.1:c.127_154dup XP_011528069.1:p.Ala52ValfsTer?
XM_011529768.1:c.127_154dup XP_011528070.1:p.Ala52ValfsTer?
XM_011529770.1:c.166_193dup XP_011528072.1:p.Ala65ValfsTer?
XR_937576.1:n.345_372dup
XM_005261069.4:c.166_193dup XP_005261126.1:p.Ala65ValfsTer?
XM_011529766.2:c.166_193dup XP_011528068.1:p.Ala65ValfsTer?
XM_011529767.2:c.127_154dup XP_011528069.1:p.Ala52ValfsTer?
XM_011529768.2:c.127_154dup XP_011528070.1:p.Ala52ValfsTer?
XM_011529770.2:c.166_193dup XP_011528072.1:p.Ala65ValfsTer?
XM_017028487.1:c.13_40dup XP_016883976.1:p.Ala14ValfsTer?
XR_937576.2:n.392_419dup
NM_001001890.3:c.85_112dup NP_001001890.1:p.Ala38ValfsTer?
NM_001122607.2:c.85_112dup NP_001116079.1:p.Ala38ValfsTer?
NM_001754.5:c.166_193dup MANE Select NP_001745.2:p.Ala65ValfsTer?
Search 100 bp 5'
Search 100 bp 3'