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"NP_004928.2:p.Tyr100_Asn367delinsLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696276", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000046640.9:c.300T>A" }, "RefSeq": { "hgvs": "NM_004937.3:c.300T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000046640.4:p.Tyr100Ter" }, "RefSeq": { "hgvs": "NP_004928.2:p.Tyr100Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825347799", "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "T", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001031681.3:c.300T>A" ], "proteinEffect": { "hgvs": "NP_001026851.2:p.Tyr100Ter", "hgvsWellDefined": "NP_001026851.2:p.Tyr100_Gly400delinsLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711482" } ], "type": "nucleotide" }