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"NP_004928.2:p.Gln92_Asn367delinsAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696276", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000046640.9:c.274C>T" }, "RefSeq": { "hgvs": "NM_004937.3:c.274C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000046640.4:p.Gln92Ter" }, "RefSeq": { "hgvs": "NP_004928.2:p.Gln92Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825347789", "coordinates": [ { "allele": "T", "end": 753, "referenceAllele": "C", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001031681.3:c.274C>T" ], "proteinEffect": { "hgvs": "NP_001026851.2:p.Gln92Ter", "hgvsWellDefined": "NP_001026851.2:p.Gln92_Gly400delinsAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711482" } ], "type": "nucleotide" }