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"ENSP00000503580.1:p.Tyr32_Leu450delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778148" }, { "coordinates": [ { "allele": "G", "end": 102, "referenceAllele": "T", "start": 101 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678520.1:c.96T>G" ], "proteinEffect": { "hgvs": "ENSP00000503361.1:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000503361.1:p.Tyr32_Lys48delinsLeuAspLeuLeuGlyThrTrpValPheGlnAspHisLysLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778162" }, { "coordinates": [ { "allele": "G", "end": 149, "referenceAllele": "T", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678554.1:c.96T>G" ], "proteinEffect": { "hgvs": "ENSP00000504541.1:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000504541.1:p.Tyr32_Arg302delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGluAsnLysSerGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778195" }, { "coordinates": [ { "allele": "G", "end": 204, "referenceAllele": "T", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678915.1:c.96T>G" ], "proteinEffect": { "hgvs": "ENSP00000504805.1:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000504805.1:p.Tyr32_Leu419delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778552" }, { "coordinates": [ { "allele": "G", "end": 160, "referenceAllele": "T", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679032.1:c.96T>G" ], "proteinEffect": { "hgvs": "ENSP00000504567.1:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000504567.1:p.Tyr32_Pro150delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuGluValArgTyrGluLysGlyAsnTrpGluGlnValLeuLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778667" }, { "coordinates": [ { "allele": "G", "end": 160, "referenceAllele": "T", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679199.1:c.96T>G" ], "proteinEffect": { "hgvs": "ENSP00000504179.1:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000504179.1:p.Tyr32_Lys134delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysArgMetAspLeuIleLeuSerSerArgProGluPheSerGlyTrpIleIleAlaHisCysAsnLeuLysThrProGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778833" }, { "coordinates": [ { "allele": "G", "end": 42, "endIntronDirection": "+", "endIntronOffset": 131, "referenceAllele": "T", "start": 42, "startIntronDirection": "+", "startIntronOffset": 130 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679224.1:c.-192+131T>G" ], "proteinEffect": { "hgvs": "ENSP00000504475.1:n.-192+131T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS778858" }, { "coordinates": [ { "allele": "G", "end": 211, "referenceAllele": "T", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000227266.9:c.96T>G" ], "proteinEffect": { "hgvs": "ENSP00000227266.4:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000227266.4:p.Tyr32_Leu463delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248582" }, { "coordinates": [ { "allele": "G", "end": 124, "referenceAllele": "T", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000393301.4:n.124T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS275548" }, { "coordinates": [ { "allele": "G", "end": 185, "referenceAllele": "T", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000524463.5:c.96T>G" ], "proteinEffect": { "hgvs": "ENSP00000432541.1:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000432541.1:p.Tyr32_Lys137delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS350618" }, { "coordinates": [ { "allele": "G", "end": 42, "endIntronDirection": "+", "endIntronOffset": 131, "referenceAllele": "T", "start": 42, "startIntronDirection": "+", "startIntronOffset": 130 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000527018.5:c.42+131T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS352792" }, { "coordinates": [ { "allele": "G", "end": 157, "referenceAllele": "T", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000529974.1:c.96T>G" ], "proteinEffect": { "hgvs": "ENSP00000433539.1:p.Tyr32Ter", "hgvsWellDefined": "ENSP00000433539.1:p.Tyr32_Gly141delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS355299" }, { "coordinates": [ { "allele": "G", "end": 164, "referenceAllele": "T", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000533865.5:n.164T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS358572" }, { "coordinates": [ { "allele": "G", "end": 160, "referenceAllele": "T", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000534131.1:n.160T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS358788" }, { "@id": "http://reg.genome.network/allele/PA2825570158", "coordinates": [ { "allele": "G", "end": 197, "referenceAllele": "T", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.1:c.96T>G" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Tyr32Ter", "hgvsWellDefined": "NP_001107645.1:p.Tyr32_Gly141delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246707" }, { "@id": "http://reg.genome.network/allele/PA2825570158", "coordinates": [ { "allele": "G", "end": 211, "referenceAllele": "T", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.2:c.96T>G" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Tyr32Ter", "hgvsWellDefined": "NP_001107645.1:p.Tyr32_Gly141delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011309" }, { "@id": "http://reg.genome.network/allele/PA163391", "coordinates": [ { "allele": "G", "end": 197, "referenceAllele": "T", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.4:c.96T>G", "LRG_50t1:c.96T>G" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Tyr32Ter", "hgvsWellDefined": "NP_001805.3:p.Tyr32_Leu463delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027144" }, { "@id": "http://reg.genome.network/allele/PA916078438", "coordinates": [ { "allele": "G", "end": 197, "referenceAllele": "T", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.3:c.96T>G" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Tyr32Ter", "hgvsWellDefined": "NP_680475.1:p.Tyr32_Lys137delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247066" }, { "@id": "http://reg.genome.network/allele/PA916078438", "coordinates": [ { "allele": "G", "end": 211, "referenceAllele": "T", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.4:c.96T>G" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Tyr32Ter", "hgvsWellDefined": "NP_680475.1:p.Tyr32_Lys137delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041644" }, { "@id": "http://reg.genome.network/allele/PA163391", "coordinates": [ { "allele": "G", "end": 211, "referenceAllele": "T", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.5:c.96T>G" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Tyr32Ter", "hgvsWellDefined": "NP_001805.3:p.Tyr32_Leu463delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524917" }, { "@id": "http://reg.genome.network/allele/PA2829343520", "coordinates": [ { "allele": "G", "end": 160, "referenceAllele": "T", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.6:c.96T>G" ], "proteinEffect": { "hgvs": "NP_001805.4:p.Tyr32Ter", "hgvsWellDefined": "NP_001805.4:p.Tyr32_Leu463delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000227266.10:c.96T>G" }, "RefSeq": { "hgvs": "NM_001814.6:c.96T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000227266.4:p.Tyr32Ter" }, "RefSeq": { "hgvs": "NP_001805.4:p.Tyr32Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825570158", "coordinates": [ { "allele": "G", "end": 160, "referenceAllele": "T", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.3:c.96T>G" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Tyr32Ter", "hgvsWellDefined": "NP_001107645.1:p.Tyr32_Gly141delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676739" }, { "@id": "http://reg.genome.network/allele/PA916078438", "coordinates": [ { "allele": "G", "end": 160, "referenceAllele": "T", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.5:c.96T>G" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Tyr32Ter", "hgvsWellDefined": "NP_680475.1:p.Tyr32_Lys137delinsLeuAspLeuLeuGlyThrTrpValPheGlnValGlySerSerGlySerGlnArgAspValAsnCysSerValMetGlyProGlnGluLysLysValValValTyrLeuGlnLysLeuAspThrAlaTyrAspAspLeuGlyAsnSerGlyHisPheThrIleIleTyrAsnGlnGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700098" } ], "type": "nucleotide" }