{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA382029645", "communityStandardTitle": [ "NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3112779[alleleid]", "alleleId": 3112779, "preferredName": "NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2950088", "RCV": [ "RCV003807446" ], "variationId": 2950088 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.88068120C>T?assembly=hg19", "id": "chr11:g.88068120C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.88334952C>T?assembly=hg38", "id": "chr11:g.88334952C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2496619764", "rs": 2496619764 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 88334952, 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"http://reg.genome.network/refseq/RS777627" }, { "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "G", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678395.1:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000503123.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000503123.1:p.Trp101_Phe143delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778042" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678464.1:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000503046.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000503046.1:p.Trp101_Leu452delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778109" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678506.1:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000503580.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000503580.1:p.Trp101_Leu450delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" 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"ENSP00000504541.1:p.Trp101_Arg302delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGluAsnLysSerGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778195" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678915.1:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000504805.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000504805.1:p.Trp101_Leu419delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778552" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679032.1:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000504567.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000504567.1:p.Trp101_Pro150delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuGluValArgTyrGluLysGlyAsnTrpGluGlnValLeuLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778667" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679199.1:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000504179.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000504179.1:p.Trp101_Lys134delinsPheAlaPhePheLysArgMetAspLeuIleLeuSerSerArgProGluPheSerGlyTrpIleIleAlaHisCysAsnLeuLysThrProGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778833" }, { "coordinates": [ { "allele": "A", "end": 173, "referenceAllele": "G", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679224.1:c.-61G>A" ], "proteinEffect": { "hgvs": "ENSP00000504475.1:n.-61G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778858" }, { "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "G", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000227266.9:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000227266.4:p.Trp101Ter", "hgvsWellDefined": "ENSP00000227266.4:p.Trp101_Leu463delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248582" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000393301.4:n.331G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS275548" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000524463.5:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000432541.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000432541.1:p.Trp101_Lys137delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS350618" }, { "coordinates": [ { "allele": "A", "end": 173, "referenceAllele": "G", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000527018.5:c.173G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352792" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000529974.1:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000433539.1:p.Trp101Ter", "hgvsWellDefined": "ENSP00000433539.1:p.Trp101_Gly141delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS355299" }, { "coordinates": [ { "allele": "A", "end": 325, "referenceAllele": "G", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000533865.5:n.325G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358572" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000534131.1:n.367G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS358788" }, { "@id": "http://reg.genome.network/allele/PA2825570204", "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.1:c.303G>A" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Trp101Ter", "hgvsWellDefined": "NP_001107645.1:p.Trp101_Gly141delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246707" }, { "@id": "http://reg.genome.network/allele/PA2825570204", "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "G", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.2:c.303G>A" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Trp101Ter", "hgvsWellDefined": "NP_001107645.1:p.Trp101_Gly141delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011309" }, { "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.4:c.303G>A", "LRG_50t1:c.303G>A" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Trp101Ter", "hgvsWellDefined": "NP_001805.3:p.Trp101_Leu463delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027144" }, { "@id": "http://reg.genome.network/allele/PA2742013809", "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.3:c.303G>A" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Trp101Ter", "hgvsWellDefined": "NP_680475.1:p.Trp101_Lys137delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247066" }, { "@id": "http://reg.genome.network/allele/PA2742013809", "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "G", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.4:c.303G>A" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Trp101Ter", "hgvsWellDefined": "NP_680475.1:p.Trp101_Lys137delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041644" }, { "coordinates": [ { "allele": "A", "end": 418, "referenceAllele": "G", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.5:c.303G>A" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Trp101Ter", "hgvsWellDefined": "NP_001805.3:p.Trp101_Leu463delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524917" }, { "@id": "http://reg.genome.network/allele/PA2829343566", "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.6:c.303G>A" ], "proteinEffect": { "hgvs": "NP_001805.4:p.Trp101Ter", "hgvsWellDefined": "NP_001805.4:p.Trp101_Leu463delinsPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000227266.10:c.303G>A" }, "RefSeq": { "hgvs": "NM_001814.6:c.303G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000227266.4:p.Trp101Ter" }, "RefSeq": { "hgvs": "NP_001805.4:p.Trp101Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825570204", "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001114173.3:c.303G>A" ], "proteinEffect": { "hgvs": "NP_001107645.1:p.Trp101Ter", "hgvsWellDefined": "NP_001107645.1:p.Trp101_Gly141delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676739" }, { "@id": "http://reg.genome.network/allele/PA2742013809", "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_148170.5:c.303G>A" ], "proteinEffect": { "hgvs": "NP_680475.1:p.Trp101Ter", "hgvsWellDefined": "NP_680475.1:p.Trp101_Lys137delinsPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700098" } ], "type": "nucleotide" }