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"ENST00000528571.5:c.*51T>A" ], "proteinEffect": { "hgvs": "ENSP00000434647.1:n.*51T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS354090" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "T", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000530040.1:n.423T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355356" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "T", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000533371.5:c.-419T>A" ], "proteinEffect": { "hgvs": "ENSP00000437066.1:n.-419T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS358154" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "T", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000534644.5:n.296T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS359222" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "T", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000611494.4:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000484546.1:p.Leu104Ter", "hgvsWellDefined": "ENSP00000484546.1:p.Leu104_Cys556delinsAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProThrSerGlnLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400868" }, { "@id": "http://reg.genome.network/allele/PA319151", "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "T", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.3:c.311T>A" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Leu104Ter", "hgvsWellDefined": "NP_000382.3:p.Leu104_Pro563delinsAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006452" }, { "@id": "http://reg.genome.network/allele/PA319151", "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "T", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.4:c.311T>A" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Leu104Ter", "hgvsWellDefined": "NP_000382.3:p.Leu104_Pro563delinsAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299427.12:c.311T>A" }, "RefSeq": { "hgvs": "NM_000391.4:c.311T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299427.6:p.Leu104Ter" }, "RefSeq": { "hgvs": "NP_000382.3:p.Leu104Ter" } } } } ], "type": "nucleotide" }