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"XP_011533049.1:p.Leu126_Val263delinsIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101759" }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "T", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266021.4:c.377T>A" ], "proteinEffect": { "hgvs": "XP_005266078.1:p.Leu126Ter", "hgvsWellDefined": "XP_005266078.1:p.Leu126_Pro286delinsIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536158" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "T", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.2:c.377T>A" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Leu126Ter", "hgvsWellDefined": "XP_011533048.1:p.Leu126_Pro286delinsIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551739" }, { "coordinates": [ { "allele": "A", "end": 626, "referenceAllele": "T", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.2:c.377T>A" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Leu126Ter", "hgvsWellDefined": "XP_011533049.1:p.Leu126_Val263delinsIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551740" }, { "@id": "http://reg.genome.network/allele/PA2741971163", "coordinates": [ { "allele": "A", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "NM_018941.4:c.377T>A" ], "proteinEffect": { "hgvs": "NP_061764.2:p.Leu126Ter", "hgvsWellDefined": "NP_061764.2:p.Leu126_Pro286delinsIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698107", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331222.6:c.377T>A" }, "RefSeq": { "hgvs": "NM_018941.4:c.377T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328182.4:p.Leu126Ter" }, "RefSeq": { "hgvs": "NP_061764.2:p.Leu126Ter" } } } } ], "type": "nucleotide" }