Canonical Allele Identifier: CA16616514
Gene: RUNX1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792418_34792420del , CM000683.2:g.34792418_34792420del GRCh38
NC_000021.8:g.36164715_36164717del , CM000683.1:g.36164715_36164717del GRCh37
NC_000021.7:g.35086585_35086587del NCBI36
NG_011402.2:g.1197293_1197295del , LRG_482:g.1197293_1197295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1159_1161del MANE Select ENSP00000501943.1:p.Gly387del
ENST00000300305.7:c.1159_1161del ENSP00000300305.3:p.Gly387del
ENST00000344691.8:c.1078_1080del ENSP00000340690.4:p.Gly360del
ENST00000399240.5:c.886_888del ENSP00000382184.1:p.Gly296del
ENST00000437180.5:c.1159_1161del ENSP00000409227.1:p.Gly387del
ENST00000482318.5:c.*749_*751del ENSP00000477067.1:n.*749_*751del
NM_001001890.2:c.1078_1080del NP_001001890.1:p.Gly360del
NM_001754.4:c.1159_1161del , LRG_482t1:c.1159_1161del NP_001745.2:p.Gly387del
XM_005261068.3:c.1123_1125del XP_005261125.1:p.Gly375del
XM_005261069.3:c.967_969del XP_005261126.1:p.Gly323del
XM_011529766.1:c.1159_1161del XP_011528068.1:p.Gly387del
XM_011529767.1:c.1120_1122del XP_011528069.1:p.Gly374del
XM_011529768.1:c.928_930del XP_011528070.1:p.Gly310del
XM_005261069.4:c.967_969del XP_005261126.1:p.Gly323del
XM_011529766.2:c.1159_1161del XP_011528068.1:p.Gly387del
XM_011529767.2:c.1120_1122del XP_011528069.1:p.Gly374del
XM_011529768.2:c.928_930del XP_011528070.1:p.Gly310del
XM_017028487.1:c.1006_1008del XP_016883976.1:p.Gly336del
NM_001001890.3:c.1078_1080del NP_001001890.1:p.Gly360del
NM_001754.5:c.1159_1161del MANE Select NP_001745.2:p.Gly387del