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"A", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678464.1:c.401G>A" ], "proteinEffect": { "hgvs": "ENSP00000503046.1:p.Trp134Ter", "hgvsWellDefined": 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"ENSP00000504475.1:p.Trp13_Leu342delinsAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" 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"NP_001805.3:p.Trp134_Leu463delinsAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027144" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.5:c.401G>A" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Trp134Ter", "hgvsWellDefined": "NP_001805.3:p.Trp134_Leu463delinsAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524917" }, { "@id": "http://reg.genome.network/allele/PA2580258164", "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.6:c.401G>A" ], "proteinEffect": { "hgvs": "NP_001805.4:p.Trp134Ter", "hgvsWellDefined": "NP_001805.4:p.Trp134_Leu463delinsAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000227266.10:c.401G>A" }, "RefSeq": { "hgvs": "NM_001814.6:c.401G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000227266.4:p.Trp134Ter" }, "RefSeq": { "hgvs": "NP_001805.4:p.Trp134Ter" } } } } ], "type": "nucleotide" }