Canonical Allele Identifier: CA658824423
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 561229
ClinVar RCV Id: RCV000680396 RCV001290702
dbSNP Id: rs1569084451
MyVariant Identifiers: chr21:g.36259268_36259320del (hg19) chr21:g.34886971_34887023del (hg38)
ERepo: CA658824423/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886971_34887023del , CM000683.2:g.34886971_34887023del GRCh38
NC_000021.8:g.36259268_36259320del , CM000683.1:g.36259268_36259320del GRCh37
NC_000021.7:g.35181138_35181190del NCBI36
NG_011402.2:g.1102689_1102741del , LRG_482:g.1102689_1102741del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.171_223del MANE Select ENSP00000501943.1:p.Leu58ProfsTer?
ENST00000300305.7:c.171_223del ENSP00000300305.3:p.Leu58ProfsTer?
ENST00000344691.8:c.90_142del ENSP00000340690.4:p.Leu31ProfsTer?
ENST00000358356.9:c.90_142del ENSP00000351123.5:p.Leu31ProfsTer?
ENST00000399237.6:c.135_187del ENSP00000382182.2:p.Leu46ProfsTer?
ENST00000399240.5:c.90_142del ENSP00000382184.1:p.Leu31ProfsTer?
ENST00000437180.5:c.171_223del ENSP00000409227.1:p.Leu58ProfsTer?
ENST00000455571.5:c.132_184del ENSP00000388189.1:p.Leu45ProfsTer?
ENST00000482318.5:c.59-6310_59-6258del ENSP00000477067.1:n.59-6310_59-6258del
NM_001001890.2:c.90_142del NP_001001890.1:p.Leu31ProfsTer?
NM_001122607.1:c.90_142del NP_001116079.1:p.Leu31ProfsTer?
NM_001754.4:c.171_223del , LRG_482t1:c.171_223del NP_001745.2:p.Leu58ProfsTer?
XM_005261068.3:c.135_187del XP_005261125.1:p.Leu46ProfsTer?
XM_005261069.3:c.171_223del XP_005261126.1:p.Leu58ProfsTer?
XM_011529766.1:c.171_223del XP_011528068.1:p.Leu58ProfsTer?
XM_011529767.1:c.132_184del XP_011528069.1:p.Leu45ProfsTer?
XM_011529768.1:c.132_184del XP_011528070.1:p.Leu45ProfsTer?
XM_011529770.1:c.171_223del XP_011528072.1:p.Leu58ProfsTer?
XR_937576.1:n.350_402del
XM_005261069.4:c.171_223del XP_005261126.1:p.Leu58ProfsTer?
XM_011529766.2:c.171_223del XP_011528068.1:p.Leu58ProfsTer?
XM_011529767.2:c.132_184del XP_011528069.1:p.Leu45ProfsTer?
XM_011529768.2:c.132_184del XP_011528070.1:p.Leu45ProfsTer?
XM_011529770.2:c.171_223del XP_011528072.1:p.Leu58ProfsTer?
XM_017028487.1:c.18_70del XP_016883976.1:p.Leu7ProfsTer?
XR_937576.2:n.397_449del
NM_001001890.3:c.90_142del NP_001001890.1:p.Leu31ProfsTer?
NM_001122607.2:c.90_142del NP_001116079.1:p.Leu31ProfsTer?
NM_001754.5:c.171_223del MANE Select NP_001745.2:p.Leu58ProfsTer?
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