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"ENSP00000504534.1:p.Lys52_Met256delinsAsnLeuLysTyrIleSerIleHisAsnLeuGluAlaSerLeuGlyValHisThrTyrGluLeuAlaMetAsnHisLeuGlyAspMetThrSerGluGluValValGlnLysMetThrGlyLeuLysValProLeuSerHisSerArgSerAsnAspThrLeuTyrIleProGluTrpGluGlyArgAlaProAspSerValAspTyrArgLysLysGlyTyrValThrProValLysAsnGlnGluGluSerCysMetTyrAsnProThrGlyLysAlaAlaLysCysArgGlyTyrArgGluIleProGluGlyAsnGluLysAlaLeuLysArgAlaValAlaArgValGlyProValSerValAlaIleAspAlaSerLeuThrSerPheGlnPheTyrSerLysGlyValTyrTyrAspGluSerCysAsnSerAspAsnLeuAsnHisAlaValLeuAlaValGlyTyrGlyIleGlnLysGlyAsnLysHisTrpIleIleLysAsnSerTrpGlyGluAsnTrpGlyAsnLysGlyTyrIleLeuMetAlaArgAsnLysAsnAsnAlaCysGlyIleAlaAsnLeuAlaSerPheProLysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778894" }, { "coordinates": [ { "allele": "T", "end": 265, "referenceAllele": "A", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN002536", "geneNCBI_id": 1513, "geneSymbol": "CTSK", "hgvs": [ "ENST00000271651.7:c.154A>T" ], "proteinEffect": { "hgvs": "ENSP00000271651.3:p.Lys52Ter", "hgvsWellDefined": "ENSP00000271651.3:p.Lys52_Met329delinsAsnLeuLysTyrIleSerIleHisAsnLeuGluAlaSerLeuGlyValHisThrTyrGluLeuAlaMetAsnHisLeuGlyAspMetThrSerGluGluValValGlnLysMetThrGlyLeuLysValProLeuSerHisSerArgSerAsnAspThrLeuTyrIleProGluTrpGluGlyArgAlaProAspSerValAspTyrArgLysLysGlyTyrValThrProValLysAsnGlnGlyGlnCysGlySerCysTrpAlaPheSerSerValGlyAlaLeuGluGlyGlnLeuLysLysLysThrGlyLysLeuLeuAsnLeuSerProGlnAsnLeuValAspCysValSerGluAsnAspGlyCysGlyGlyGlyTyrMetThrAsnAlaPheGlnTyrValGlnLysAsnArgGlyIleAspSerGluAspAlaTyrProTyrValGlyGlnGluGluSerCysMetTyrAsnProThrGlyLysAlaAlaLysCysArgGlyTyrArgGluIleProGluGlyAsnGluLysAlaLeuLysArgAlaValAlaArgValGlyProValSerValAlaIleAspAlaSerLeuThrSerPheGlnPheTyrSerLysGlyValTyrTyrAspGluSerCysAsnSerAspAsnLeuAsnHisAlaValLeuAlaValGlyTyrGlyIleGlnLysGlyAsnLysHisTrpIleIleLysAsnSerTrpGlyGluAsnTrpGlyAsnLysGlyTyrIleLeuMetAlaArgAsnLysAsnAsnAlaCysGlyIleAlaAsnLeuAlaSerPheProLysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252314" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "A", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN002536", "geneNCBI_id": 1513, "geneSymbol": "CTSK", "hgvs": [ "ENST00000443913.1:c.331A>T" ], "proteinEffect": { "hgvs": "ENSP00000405083.1:p.Lys111Ter", "hgvsWellDefined": "ENSP00000405083.1:p.Lys111Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS297565" }, { "coordinates": [ { "allele": "T", "end": 83, "endIntronDirection": "-", "endIntronOffset": 174, "referenceAllele": "A", "start": 83, "startIntronDirection": "-", "startIntronOffset": 175 } ], "gene": "http://reg.genome.network/gene/GN002536", "geneNCBI_id": 1513, "geneSymbol": "CTSK", "hgvs": [ "ENST00000480670.1:n.84-175A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320760" }, { "@id": "http://reg.genome.network/allele/PA119614", "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "A", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002536", "geneNCBI_id": 1513, "geneSymbol": "CTSK", "hgvs": [ "NM_000396.3:c.154A>T" ], "proteinEffect": { "hgvs": "NP_000387.1:p.Lys52Ter", "hgvsWellDefined": "NP_000387.1:p.Lys52_Met329delinsAsnLeuLysTyrIleSerIleHisAsnLeuGluAlaSerLeuGlyValHisThrTyrGluLeuAlaMetAsnHisLeuGlyAspMetThrSerGluGluValValGlnLysMetThrGlyLeuLysValProLeuSerHisSerArgSerAsnAspThrLeuTyrIleProGluTrpGluGlyArgAlaProAspSerValAspTyrArgLysLysGlyTyrValThrProValLysAsnGlnGlyGlnCysGlySerCysTrpAlaPheSerSerValGlyAlaLeuGluGlyGlnLeuLysLysLysThrGlyLysLeuLeuAsnLeuSerProGlnAsnLeuValAspCysValSerGluAsnAspGlyCysGlyGlyGlyTyrMetThrAsnAlaPheGlnTyrValGlnLysAsnArgGlyIleAspSerGluAspAlaTyrProTyrValGlyGlnGluGluSerCysMetTyrAsnProThrGlyLysAlaAlaLysCysArgGlyTyrArgGluIleProGluGlyAsnGluLysAlaLeuLysArgAlaValAlaArgValGlyProValSerValAlaIleAspAlaSerLeuThrSerPheGlnPheTyrSerLysGlyValTyrTyrAspGluSerCysAsnSerAspAsnLeuAsnHisAlaValLeuAlaValGlyTyrGlyIleGlnLysGlyAsnLysHisTrpIleIleLysAsnSerTrpGlyGluAsnTrpGlyAsnLysGlyTyrIleLeuMetAlaArgAsnLysAsnAsnAlaCysGlyIleAlaAsnLeuAlaSerPheProLysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006457" }, { "@id": "http://reg.genome.network/allele/PA119614", "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "A", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN002536", "geneNCBI_id": 1513, "geneSymbol": "CTSK", "hgvs": [ "NM_000396.4:c.154A>T" ], "proteinEffect": { "hgvs": "NP_000387.1:p.Lys52Ter", "hgvsWellDefined": "NP_000387.1:p.Lys52_Met329delinsAsnLeuLysTyrIleSerIleHisAsnLeuGluAlaSerLeuGlyValHisThrTyrGluLeuAlaMetAsnHisLeuGlyAspMetThrSerGluGluValValGlnLysMetThrGlyLeuLysValProLeuSerHisSerArgSerAsnAspThrLeuTyrIleProGluTrpGluGlyArgAlaProAspSerValAspTyrArgLysLysGlyTyrValThrProValLysAsnGlnGlyGlnCysGlySerCysTrpAlaPheSerSerValGlyAlaLeuGluGlyGlnLeuLysLysLysThrGlyLysLeuLeuAsnLeuSerProGlnAsnLeuValAspCysValSerGluAsnAspGlyCysGlyGlyGlyTyrMetThrAsnAlaPheGlnTyrValGlnLysAsnArgGlyIleAspSerGluAspAlaTyrProTyrValGlyGlnGluGluSerCysMetTyrAsnProThrGlyLysAlaAlaLysCysArgGlyTyrArgGluIleProGluGlyAsnGluLysAlaLeuLysArgAlaValAlaArgValGlyProValSerValAlaIleAspAlaSerLeuThrSerPheGlnPheTyrSerLysGlyValTyrTyrAspGluSerCysAsnSerAspAsnLeuAsnHisAlaValLeuAlaValGlyTyrGlyIleGlnLysGlyAsnLysHisTrpIleIleLysAsnSerTrpGlyGluAsnTrpGlyAsnLysGlyTyrIleLeuMetAlaArgAsnLysAsnAsnAlaCysGlyIleAlaAsnLeuAlaSerPheProLysMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662426", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000271651.8:c.154A>T" }, "RefSeq": { "hgvs": "NM_000396.4:c.154A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000271651.3:p.Lys52Ter" }, "RefSeq": { "hgvs": "NP_000387.1:p.Lys52Ter" } } } } ], "type": "nucleotide" }