Canonical Allele Identifier: CA2580616384
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1349747
ClinVar RCV Id: RCV002039239 RCV003448422
dbSNP Id: rs1555884790
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792170_34792171del , CM000683.2:g.34792170_34792171del GRCh38
NC_000021.8:g.36164467_36164468del , CM000683.1:g.36164467_36164468del GRCh37
NC_000021.7:g.35086337_35086338del NCBI36
NG_011402.2:g.1197546_1197547del , LRG_482:g.1197546_1197547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1412_1413del MANE Select ENSP00000501943.1:p.Arg471ProfsTer?
ENST00000300305.7:c.1412_1413del ENSP00000300305.3:p.Arg471ProfsTer?
ENST00000344691.8:c.1331_1332del ENSP00000340690.4:p.Arg444ProfsTer?
ENST00000399240.5:c.1139_1140del ENSP00000382184.1:p.Arg380ProfsTer?
ENST00000437180.5:c.1412_1413del ENSP00000409227.1:p.Arg471ProfsTer?
ENST00000482318.5:c.*1002_*1003del ENSP00000477067.1:n.*1002_*1003del
NM_001001890.2:c.1331_1332del NP_001001890.1:p.Arg444ProfsTer?
NM_001754.4:c.1412_1413del , LRG_482t1:c.1412_1413del NP_001745.2:p.Arg471ProfsTer?
XM_005261068.3:c.1376_1377del XP_005261125.1:p.Arg459ProfsTer?
XM_005261069.3:c.1220_1221del XP_005261126.1:p.Arg407ProfsTer?
XM_011529766.1:c.1412_1413del XP_011528068.1:p.Arg471ProfsTer?
XM_011529767.1:c.1373_1374del XP_011528069.1:p.Arg458ProfsTer?
XM_011529768.1:c.1181_1182del XP_011528070.1:p.Arg394ProfsTer?
XM_005261069.4:c.1220_1221del XP_005261126.1:p.Arg407ProfsTer?
XM_011529766.2:c.1412_1413del XP_011528068.1:p.Arg471ProfsTer?
XM_011529767.2:c.1373_1374del XP_011528069.1:p.Arg458ProfsTer?
XM_011529768.2:c.1181_1182del XP_011528070.1:p.Arg394ProfsTer?
XM_017028487.1:c.1259_1260del XP_016883976.1:p.Arg420ProfsTer?
NM_001001890.3:c.1331_1332del NP_001001890.1:p.Arg444ProfsTer?
NM_001754.5:c.1412_1413del MANE Select NP_001745.2:p.Arg471ProfsTer?
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