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"ENSP00000299427.6:p.Glu46_Pro563delinsLeuSerLeuThrPheAlaLeuArgGlnGlnAsnValGluArgLeuSerGluLeuValGlnAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254722" }, { "coordinates": [ { "allele": "T", "end": 152, "referenceAllele": "G", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000428886.6:n.152G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS290414" }, { "coordinates": [ { "allele": "T", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000436873.6:c.130G>T" ], "proteinEffect": { "hgvs": "ENSP00000398136.2:p.Glu44Ter", "hgvsWellDefined": "ENSP00000398136.2:p.Glu44_Leu177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294190" }, { "coordinates": [ { "allele": "T", "end": 227, "referenceAllele": "G", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000524903.1:n.227G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350997" }, { "coordinates": [ { "allele": "T", "end": 111, "endIntronDirection": "+", "endIntronOffset": 321, "referenceAllele": "G", "start": 111, "startIntronDirection": "+", "startIntronOffset": 320 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528571.5:c.89+321G>T" ], "proteinEffect": { "hgvs": "ENSP00000434647.1:n.89+321G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS354090" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528657.1:c.*317G>T" ], "proteinEffect": { "hgvs": "ENSP00000435001.1:n.*317G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS354166" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528917.1:n.431G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS354382" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "G", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000530040.1:n.242G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355356" }, { "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000531754.1:n.178G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS356793" }, { "coordinates": [ { "allele": "T", "end": 200, "referenceAllele": "G", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000533371.5:c.-600G>T" ], "proteinEffect": { "hgvs": "ENSP00000437066.1:n.-600G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS358154" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "+", "endIntronOffset": 321, "referenceAllele": "G", "start": 214, "startIntronDirection": "+", "startIntronOffset": 320 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000534644.5:n.214+321G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS359222" }, { "coordinates": [ { "allele": "T", "end": 160, "referenceAllele": "G", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000611494.4:c.130G>T" ], "proteinEffect": { "hgvs": "ENSP00000484546.1:p.Glu44Ter", "hgvsWellDefined": "ENSP00000484546.1:p.Glu46_Cys556delinsLeuSerLeuThrPheAlaLeuArgGlnGlnAsnValGluArgLeuSerGluLeuValGlnAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProThrSerGlnLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400868" }, { "@id": "http://reg.genome.network/allele/PA2580115370", "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.3:c.130G>T" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Glu44Ter", "hgvsWellDefined": "NP_000382.3:p.Glu46_Pro563delinsLeuSerLeuThrPheAlaLeuArgGlnGlnAsnValGluArgLeuSerGluLeuValGlnAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006452" }, { "@id": "http://reg.genome.network/allele/PA2580115370", "coordinates": [ { "allele": "T", "end": 152, "referenceAllele": "G", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.4:c.130G>T" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Glu44Ter", "hgvsWellDefined": "NP_000382.3:p.Glu46_Pro563delinsLeuSerLeuThrPheAlaLeuArgGlnGlnAsnValGluArgLeuSerGluLeuValGlnAlaValSerAspProSerSerProGlnTyrGlyLysTyrLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299427.12:c.130G>T" }, "RefSeq": { "hgvs": "NM_000391.4:c.130G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299427.6:p.Glu44Ter" }, "RefSeq": { "hgvs": "NP_000382.3:p.Glu44Ter" } } } } ], "type": "nucleotide" }