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"geneSymbol": "CLN8", "hgvs": [ "XM_005266023.1:c.130C>T" ], "proteinEffect": { "hgvs": "XP_005266080.1:p.Gln44Ter", "hgvsWellDefined": "XP_005266080.1:p.Gln44_Pro286delinsLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064893" }, { "coordinates": [ { 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"XP_011533047.1:p.Gln44_Pro286delinsLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101757" }, { "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "C", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.1:c.130C>T" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Gln44Ter", "hgvsWellDefined": "XP_011533048.1:p.Gln44_Pro286delinsLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101758" }, { "coordinates": [ { "allele": "T", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.1:c.130C>T" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Gln44Ter", "hgvsWellDefined": "XP_011533049.1:p.Gln44_Val263delinsLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101759" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266021.4:c.130C>T" ], "proteinEffect": { "hgvs": "XP_005266078.1:p.Gln44Ter", "hgvsWellDefined": "XP_005266078.1:p.Gln44_Pro286delinsLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536158" }, { "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.2:c.130C>T" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Gln44Ter", "hgvsWellDefined": "XP_011533048.1:p.Gln44_Pro286delinsLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551739" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.2:c.130C>T" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Gln44Ter", "hgvsWellDefined": "XP_011533049.1:p.Gln44_Val263delinsLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551740" }, { "@id": "http://reg.genome.network/allele/PA2499285250", "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "NM_018941.4:c.130C>T" ], "proteinEffect": { "hgvs": "NP_061764.2:p.Gln44Ter", "hgvsWellDefined": "NP_061764.2:p.Gln44_Pro286delinsLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698107", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331222.6:c.130C>T" }, "RefSeq": { "hgvs": "NM_018941.4:c.130C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328182.4:p.Gln44Ter" }, "RefSeq": { "hgvs": "NP_061764.2:p.Gln44Ter" } } } } ], "type": "nucleotide" }