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"referenceSequence": "http://reg.genome.network/refseq/RS254722" }, { "coordinates": [ { "allele": "T", "end": 479, "endIntronDirection": "-", "endIntronOffset": 283, "referenceAllele": "C", "start": 479, "startIntronDirection": "-", "startIntronOffset": 284 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000436873.6:c.451-284C>T" ], "proteinEffect": { "hgvs": "ENSP00000398136.2:n.451-284C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS294190" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000524788.1:n.460C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350893" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528807.1:n.310C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS354290" }, { "coordinates": [ { "allele": "T", "end": 830, "referenceAllele": "C", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000533371.5:c.31C>T" ], "proteinEffect": { "hgvs": "ENSP00000437066.1:p.Gln11Ter", "hgvsWellDefined": "ENSP00000437066.1:p.Gln11_Pro320delinsAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS358154" }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000611494.4:c.760C>T" ], "proteinEffect": { "hgvs": "ENSP00000484546.1:p.Gln254Ter", "hgvsWellDefined": "ENSP00000484546.1:p.Gln254_Cys556delinsAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProThrSerGlnLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400868" }, { "@id": "http://reg.genome.network/allele/PA2580115448", "coordinates": [ { "allele": "T", "end": 821, "referenceAllele": "C", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.3:c.760C>T" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Gln254Ter", "hgvsWellDefined": "NP_000382.3:p.Gln254_Pro563delinsAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006452" }, { "@id": "http://reg.genome.network/allele/PA2580115448", "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "C", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.4:c.760C>T" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Gln254Ter", "hgvsWellDefined": "NP_000382.3:p.Gln254_Pro563delinsAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299427.12:c.760C>T" }, "RefSeq": { "hgvs": "NM_000391.4:c.760C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299427.6:p.Gln254Ter" }, "RefSeq": { "hgvs": "NP_000382.3:p.Gln254Ter" } } } } ], "type": "nucleotide" }