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"allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "XM_011538769.2:c.418C>T" ], "proteinEffect": { "hgvs": "XP_011537071.1:p.Gln140Ter", "hgvsWellDefined": "XP_011537071.1:p.Gln140_Arg216delinsArgCysAlaArgThrAspLysSerGlnAspLeuIleLeuLeuProArgLeuGluCysSerGlyMetIleMetAlaHisCysSerLeuLysLeuLeuGlySerSerAsnProProAlaSerAlaSerArgValAlaArgAlaPheSerLeuLeuProArgHisLeuGlyGlyLeuProProThrThrGlnArgLeuAlaAspGlyAspSerArgAlaGlyGluAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553411" }, { "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "XR_001748872.1:n.873C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596811" }, { "@id": "http://reg.genome.network/allele/PA2825242330", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_001002019.3:c.334C>T" ], "proteinEffect": { "hgvs": "NP_001002019.1:p.Gln112Ter", "hgvsWellDefined": "NP_001002019.1:p.Gln112_Asp399delinsArgCysAlaArgThrAspLysGlyValSerAlaAlaGlyGlnValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675057" }, { "@id": "http://reg.genome.network/allele/PA2825243064", "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_001002020.3:c.334C>T" ], "proteinEffect": { "hgvs": "NP_001002020.1:p.Gln112Ter", "hgvsWellDefined": "NP_001002020.1:p.Gln112_Asp399delinsArgCysAlaArgThrAspLysGlyValSerAlaAlaGlyGlnValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675058" }, { "@id": "http://reg.genome.network/allele/PA2580470701", "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_025215.6:c.418C>T" ], "proteinEffect": { "hgvs": "NP_079491.2:p.Gln140Ter", "hgvsWellDefined": "NP_079491.2:p.Gln140_Asp427delinsArgCysAlaArgThrAspLysGlyValSerAlaAlaGlyGlnValValSerLeuLysValTrpLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698838", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376649.8:c.418C>T" }, "RefSeq": { "hgvs": "NM_025215.6:c.418C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365837.3:p.Gln140Ter" }, "RefSeq": { "hgvs": "NP_079491.2:p.Gln140Ter" } } } } ], "type": "nucleotide" }