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"ENSP00000503580.1:p.Cys30_Leu450delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778148" }, { "coordinates": [ { "allele": "A", "end": 96, "referenceAllele": "C", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678520.1:c.90C>A" ], "proteinEffect": { "hgvs": "ENSP00000503361.1:p.Cys30Ter", "hgvsWellDefined": "ENSP00000503361.1:p.Cys30_Lys48delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnAspHisLysLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778162" }, { "coordinates": [ { "allele": "A", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678554.1:c.90C>A" ], "proteinEffect": { "hgvs": "ENSP00000504541.1:p.Cys30Ter", "hgvsWellDefined": "ENSP00000504541.1:p.Cys30_Arg302delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGluAsnLysSerGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778195" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "C", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678915.1:c.90C>A" ], "proteinEffect": { "hgvs": "ENSP00000504805.1:p.Cys30Ter", "hgvsWellDefined": "ENSP00000504805.1:p.Cys30_Leu419delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778552" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679032.1:c.90C>A" ], "proteinEffect": { "hgvs": "ENSP00000504567.1:p.Cys30Ter", "hgvsWellDefined": "ENSP00000504567.1:p.Cys30_Pro150delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuGluValArgTyrGluLysGlyAsnTrpGluGlnValLeuLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778667" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679199.1:c.90C>A" ], "proteinEffect": { "hgvs": "ENSP00000504179.1:p.Cys30Ter", "hgvsWellDefined": "ENSP00000504179.1:p.Cys30_Lys134delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysArgMetAspLeuIleLeuSerSerArgProGluPheSerGlyTrpIleIleAlaHisCysAsnLeuLysThrProGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778833" }, { "coordinates": [ { "allele": "A", "end": 42, "endIntronDirection": "+", "endIntronOffset": 125, "referenceAllele": "C", "start": 42, "startIntronDirection": "+", "startIntronOffset": 124 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679224.1:c.-192+125C>A" ], "proteinEffect": { "hgvs": "ENSP00000504475.1:n.-192+125C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778858" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000227266.9:c.90C>A" ], "proteinEffect": { "hgvs": "ENSP00000227266.4:p.Cys30Ter", "hgvsWellDefined": "ENSP00000227266.4:p.Cys30_Leu463delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248582" }, { "coordinates": [ { "allele": "A", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000393301.4:n.118C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS275548" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000524463.5:c.90C>A" ], "proteinEffect": { "hgvs": "ENSP00000432541.1:p.Cys30Ter", "hgvsWellDefined": "ENSP00000432541.1:p.Cys30_Lys137delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS350618" }, { "coordinates": [ { "allele": "A", "end": 42, "endIntronDirection": "+", "endIntronOffset": 125, "referenceAllele": "C", "start": 42, "startIntronDirection": "+", "startIntronOffset": 124 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000527018.5:c.42+125C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352792" }, { "coordinates": [ { "allele": "A", "end": 151, "referenceAllele": "C", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000529974.1:c.90C>A" ], "proteinEffect": { "hgvs": "ENSP00000433539.1:p.Cys30Ter", "hgvsWellDefined": "ENSP00000433539.1:p.Cys30_Gly141delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS355299" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "C", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000533865.5:n.158C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358572" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000534131.1:n.154C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358788" }, { "@id": "http://reg.genome.network/allele/PA2825570154", "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.1:c.90C>A" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Cys30Ter", "hgvsWellDefined": "NP_001107645.1:p.Cys30_Gly141delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246707" }, { "@id": "http://reg.genome.network/allele/PA2825570154", "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.2:c.90C>A" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Cys30Ter", "hgvsWellDefined": "NP_001107645.1:p.Cys30_Gly141delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011309" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.4:c.90C>A", "LRG_50t1:c.90C>A" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Cys30Ter", "hgvsWellDefined": "NP_001805.3:p.Cys30_Leu463delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027144" }, { "@id": "http://reg.genome.network/allele/PA2742013795", "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "C", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.3:c.90C>A" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Cys30Ter", "hgvsWellDefined": "NP_680475.1:p.Cys30_Lys137delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247066" }, { "@id": "http://reg.genome.network/allele/PA2742013795", "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.4:c.90C>A" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Cys30Ter", "hgvsWellDefined": "NP_680475.1:p.Cys30_Lys137delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041644" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.5:c.90C>A" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Cys30Ter", "hgvsWellDefined": "NP_001805.3:p.Cys30_Leu463delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524917" }, { "@id": "http://reg.genome.network/allele/PA2829343516", "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.6:c.90C>A" ], "proteinEffect": { "hgvs": "NP_001805.4:p.Cys30Ter", "hgvsWellDefined": "NP_001805.4:p.Cys30_Leu463delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000227266.10:c.90C>A" }, "RefSeq": { "hgvs": "NM_001814.6:c.90C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000227266.4:p.Cys30Ter" }, "RefSeq": { "hgvs": "NP_001805.4:p.Cys30Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825570154", "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.3:c.90C>A" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Cys30Ter", "hgvsWellDefined": "NP_001107645.1:p.Cys30_Gly141delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676739" }, { "@id": "http://reg.genome.network/allele/PA2742013795", "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.5:c.90C>A" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Cys30Ter", "hgvsWellDefined": "NP_680475.1:p.Cys30_Lys137delinsThrTyrLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700098" } ], "type": "nucleotide" }