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"NM_001366624.1:c.338T>A" ], "proteinEffect": { "hgvs": "NP_001353553.1:p.Leu113Ter", "hgvsWellDefined": "NP_001353553.1:p.Leu113_Gly197delinsLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerAspGlyGluThrGluAlaGlnArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524748" }, { "@id": "http://reg.genome.network/allele/PA2829667397", "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_006493.3:c.338T>A" ], "proteinEffect": { "hgvs": "NP_006484.2:p.Leu113Ter", "hgvsWellDefined": "NP_006484.2:p.Leu113_Leu358delinsLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerGlyAsnMetPheAsnGlnMetAlaLysTrpValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525406" }, { "coordinates": [ { "allele": "T", "end": 982, "endIntronDirection": "-", "endIntronOffset": 2275, "referenceAllele": "A", "start": 982, "startIntronDirection": "-", "startIntronOffset": 2276 } ], "gene": "http://reg.genome.network/gene/GN013599", "geneNCBI_id": 26224, "geneSymbol": "FBXL3", "hgvs": [ "XM_017020538.2:c.644-2276A>T" ], "proteinEffect": { "hgvs": "XP_016876027.1:n.644-2276A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS572004" }, { "@id": "http://reg.genome.network/allele/PA2828215244", "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_001366624.2:c.338T>A" ], "proteinEffect": { "hgvs": "NP_001353553.1:p.Leu113Ter", "hgvsWellDefined": "NP_001353553.1:p.Leu113_Gly197delinsLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerAspGlyGluThrGluAlaGlnArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691217" }, { "@id": "http://reg.genome.network/allele/PA2829667397", "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_006493.4:c.338T>A" ], "proteinEffect": { "hgvs": "NP_006484.2:p.Leu113Ter", "hgvsWellDefined": "NP_006484.2:p.Leu113_Leu358delinsLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerGlyAsnMetPheAsnGlnMetAlaLysTrpValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696728", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377453.9:c.338T>A" }, "RefSeq": { "hgvs": "NM_006493.4:c.338T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366673.5:p.Leu113Ter" }, "RefSeq": { "hgvs": "NP_006484.2:p.Leu113Ter" } } } } ], "type": "nucleotide" }