Canonical Allele Identifier: CA658824416
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 561240
ClinVar RCV Id: RCV000680412
dbSNP Id: rs1569078765
MyVariant Identifiers: chr21:g.36252849_36252905dup (hg19) chr21:g.34880552_34880608dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880553_34880609dup , CM000683.2:g.34880553_34880609dup GRCh38
NC_000021.8:g.36252850_36252906dup , CM000683.1:g.36252850_36252906dup GRCh37
NC_000021.7:g.35174720_35174776dup NCBI36
NG_011402.2:g.1109104_1109160dup , LRG_482:g.1109104_1109160dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.457_508+5dup
ENST00000300305.7:c.457_508+5dup
ENST00000344691.8:c.376_427+5dup
ENST00000358356.9:c.376_427+5dup
ENST00000399237.6:c.421_472+5dup
ENST00000399240.5:c.376_427+5dup
ENST00000437180.5:c.457_508+5dup
ENST00000482318.5:c.*47_*98+5dup
NM_001001890.2:c.376_427+5dup
NM_001122607.1:c.376_427+5dup
NM_001754.4:c.457_508+5dup , LRG_482t1:c.457_508+5dup
XM_005261068.3:c.421_472+5dup
XM_005261069.3:c.457_508+5dup
XM_011529766.1:c.457_508+5dup
XM_011529767.1:c.418_469+5dup
XM_011529768.1:c.418_469+5dup
XM_011529770.1:c.457_508+5dup
XR_937576.1:n.636_687+5dup
XM_005261069.4:c.457_508+5dup
XM_011529766.2:c.457_508+5dup
XM_011529767.2:c.418_469+5dup
XM_011529768.2:c.418_469+5dup
XM_011529770.2:c.457_508+5dup
XM_017028487.1:c.304_355+5dup
XR_937576.2:n.683_734+5dup
NM_001001890.3:c.376_427+5dup
NM_001122607.2:c.376_427+5dup
NM_001754.5:c.457_508+5dup
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