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"referenceSequence": "http://reg.genome.network/refseq/RS549661" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_011529768.2:c.630C>A" ], "proteinEffect": { "hgvs": "XP_011528070.1:p.Tyr210Ter", "hgvsWellDefined": "XP_011528070.1:p.Tyr210_Tyr403delinsLeuGlySerIleAlaSerProSerValHisProAlaThrProIleSerProGlyArgAlaSerGlyMetThrThrLeuSerAlaGluLeuSerSerArgLeuSerThrAlaProAspLeuThrAlaPheSerAspProArgGlnPheProAlaLeuProSerIleSerAspProArgMetHisTyrProGlyAlaPheThrTyrSerProThrProValThrSerGlyIleGlyIleGlyMetSerAlaMetGlySerAlaThrArgTyrHisThrTyrLeuProProProTyrProGlySerSerGlnAlaGlnGlyGlyProPheGlnAlaSerSerProSerTyrHisLeuTyrTyrGlyAlaSerAlaGlySerTyrGlnPheSerMetValGlyGlyGluArgSerProProArgIleLeuProProCysThrAsnAlaSerThrGlySerAlaLeuLeuAsnProSerLeuProAsnGlnSerAspValValGluAlaGluGlySerHisSerAsnSerProThrAsnMetAlaProSerAlaArgLeuGluGluAlaValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549662" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XM_017028487.1:c.708C>A" ], "proteinEffect": { "hgvs": "XP_016883976.1:p.Tyr236Ter", "hgvsWellDefined": "XP_016883976.1:p.Tyr236_Tyr429delinsLeuGlySerIleAlaSerProSerValHisProAlaThrProIleSerProGlyArgAlaSerGlyMetThrThrLeuSerAlaGluLeuSerSerArgLeuSerThrAlaProAspLeuThrAlaPheSerAspProArgGlnPheProAlaLeuProSerIleSerAspProArgMetHisTyrProGlyAlaPheThrTyrSerProThrProValThrSerGlyIleGlyIleGlyMetSerAlaMetGlySerAlaThrArgTyrHisThrTyrLeuProProProTyrProGlySerSerGlnAlaGlnGlyGlyProPheGlnAlaSerSerProSerTyrHisLeuTyrTyrGlyAlaSerAlaGlySerTyrGlnPheSerMetValGlyGlyGluArgSerProProArgIleLeuProProCysThrAsnAlaSerThrGlySerAlaLeuLeuAsnProSerLeuProAsnGlnSerAspValValGluAlaGluGlySerHisSerAsnSerProThrAsnMetAlaProSerAlaArgLeuGluGluAlaValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578227" }, { "coordinates": [ { "allele": "A", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "XR_937576.2:n.1087C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS611635" }, { "@id": "http://reg.genome.network/allele/PA248621", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "C", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "NM_001001890.3:c.780C>A" ], "proteinEffect": { "hgvs": "NP_001001890.1:p.Tyr260Ter", "hgvsWellDefined": "NP_001001890.1:p.Tyr260_Tyr453delinsLeuGlySerIleAlaSerProSerValHisProAlaThrProIleSerProGlyArgAlaSerGlyMetThrThrLeuSerAlaGluLeuSerSerArgLeuSerThrAlaProAspLeuThrAlaPheSerAspProArgGlnPheProAlaLeuProSerIleSerAspProArgMetHisTyrProGlyAlaPheThrTyrSerProThrProValThrSerGlyIleGlyIleGlyMetSerAlaMetGlySerAlaThrArgTyrHisThrTyrLeuProProProTyrProGlySerSerGlnAlaGlnGlyGlyProPheGlnAlaSerSerProSerTyrHisLeuTyrTyrGlyAlaSerAlaGlySerTyrGlnPheSerMetValGlyGlyGluArgSerProProArgIleLeuProProCysThrAsnAlaSerThrGlySerAlaLeuLeuAsnProSerLeuProAsnGlnSerAspValValGluAlaGluGlySerHisSerAsnSerProThrAsnMetAlaProSerAlaArgLeuGluGluAlaValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675044" }, { "@id": "http://reg.genome.network/allele/PA248622", "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN010471", "geneNCBI_id": 861, "geneSymbol": "RUNX1", "hgvs": [ "NM_001754.5:c.861C>A" ], "proteinEffect": { "hgvs": "NP_001745.2:p.Tyr287Ter", "hgvsWellDefined": "NP_001745.2:p.Tyr287_Tyr480delinsLeuGlySerIleAlaSerProSerValHisProAlaThrProIleSerProGlyArgAlaSerGlyMetThrThrLeuSerAlaGluLeuSerSerArgLeuSerThrAlaProAspLeuThrAlaPheSerAspProArgGlnPheProAlaLeuProSerIleSerAspProArgMetHisTyrProGlyAlaPheThrTyrSerProThrProValThrSerGlyIleGlyIleGlyMetSerAlaMetGlySerAlaThrArgTyrHisThrTyrLeuProProProTyrProGlySerSerGlnAlaGlnGlyGlyProPheGlnAlaSerSerProSerTyrHisLeuTyrTyrGlyAlaSerAlaGlySerTyrGlnPheSerMetValGlyGlyGluArgSerProProArgIleLeuProProCysThrAsnAlaSerThrGlySerAlaLeuLeuAsnProSerLeuProAsnGlnSerAspValValGluAlaGluGlySerHisSerAsnSerProThrAsnMetAlaProSerAlaArgLeuGluGluAlaValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727204", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675419.1:c.861C>A" }, "RefSeq": { "hgvs": "NM_001754.5:c.861C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501943.1:p.Tyr287Ter" }, "RefSeq": { "hgvs": "NP_001745.2:p.Tyr287Ter" } } } } ], "type": "nucleotide" }