Canonical Allele Identifier: CA658824415
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 561241
ClinVar RCV Id: RCV000680413
dbSNP Id: rs1569078757
MyVariant Identifiers: chr21:g.36252849_36252868dup (hg19) chr21:g.34880552_34880571dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880554_34880573dup , CM000683.2:g.34880554_34880573dup GRCh38
NC_000021.8:g.36252851_36252870dup , CM000683.1:g.36252851_36252870dup GRCh37
NC_000021.7:g.35174721_35174740dup NCBI36
NG_011402.2:g.1109141_1109160dup , LRG_482:g.1109141_1109160dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.494_508+5dup
ENST00000300305.7:c.494_508+5dup
ENST00000344691.8:c.413_427+5dup
ENST00000358356.9:c.413_427+5dup
ENST00000399237.6:c.458_472+5dup
ENST00000399240.5:c.413_427+5dup
ENST00000437180.5:c.494_508+5dup
ENST00000482318.5:c.*84_*98+5dup
NM_001001890.2:c.413_427+5dup
NM_001122607.1:c.413_427+5dup
NM_001754.4:c.494_508+5dup , LRG_482t1:c.494_508+5dup
XM_005261068.3:c.458_472+5dup
XM_005261069.3:c.494_508+5dup
XM_011529766.1:c.494_508+5dup
XM_011529767.1:c.455_469+5dup
XM_011529768.1:c.455_469+5dup
XM_011529770.1:c.494_508+5dup
XR_937576.1:n.673_687+5dup
XM_005261069.4:c.494_508+5dup
XM_011529766.2:c.494_508+5dup
XM_011529767.2:c.455_469+5dup
XM_011529768.2:c.455_469+5dup
XM_011529770.2:c.494_508+5dup
XM_017028487.1:c.341_355+5dup
XR_937576.2:n.720_734+5dup
NM_001001890.3:c.413_427+5dup
NM_001122607.2:c.413_427+5dup
NM_001754.5:c.494_508+5dup
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