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"referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "XM_011534917.1:c.389C>A" ], "proteinEffect": { "hgvs": "XP_011533219.1:p.Ser130Ter", "hgvsWellDefined": "XP_011533219.1:p.Ser130_Gly246delinsProIleProValMetGluGlyAspAspAspIleGluValPheArgLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerAspGlyGluThrGluAlaGlnArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101928" }, { "@id": "http://reg.genome.network/allele/PA2828215217", "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_001366624.1:c.242C>A" ], "proteinEffect": { "hgvs": "NP_001353553.1:p.Ser81Ter", "hgvsWellDefined": "NP_001353553.1:p.Ser81_Gly197delinsProIleProValMetGluGlyAspAspAspIleGluValPheArgLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerAspGlyGluThrGluAlaGlnArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524748" }, { "@id": "http://reg.genome.network/allele/PA2580345286", "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_006493.3:c.242C>A" ], "proteinEffect": { "hgvs": "NP_006484.2:p.Ser81Ter", "hgvsWellDefined": "NP_006484.2:p.Ser81_Leu358delinsProIleProValMetGluGlyAspAspAspIleGluValPheArgLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerGlyAsnMetPheAsnGlnMetAlaLysTrpValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525406" }, { "coordinates": [ { "allele": "T", "end": 982, "endIntronDirection": "-", "endIntronOffset": 2179, "referenceAllele": "G", "start": 982, "startIntronDirection": "-", "startIntronOffset": 2180 } ], "gene": "http://reg.genome.network/gene/GN013599", "geneNCBI_id": 26224, "geneSymbol": "FBXL3", "hgvs": [ "XM_017020538.2:c.644-2180G>T" ], "proteinEffect": { "hgvs": "XP_016876027.1:n.644-2180G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS572004" }, { "@id": "http://reg.genome.network/allele/PA2828215217", "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_001366624.2:c.242C>A" ], "proteinEffect": { "hgvs": "NP_001353553.1:p.Ser81Ter", "hgvsWellDefined": "NP_001353553.1:p.Ser81_Gly197delinsProIleProValMetGluGlyAspAspAspIleGluValPheArgLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerAspGlyGluThrGluAlaGlnArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691217" }, { "@id": "http://reg.genome.network/allele/PA2580345286", "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN002076", "geneNCBI_id": 1203, "geneSymbol": "CLN5", "hgvs": [ "NM_006493.4:c.242C>A" ], "proteinEffect": { "hgvs": "NP_006484.2:p.Ser81Ter", "hgvsWellDefined": "NP_006484.2:p.Ser81_Leu358delinsProIleProValMetGluGlyAspAspAspIleGluValPheArgLeuGlnAlaProValTrpGluPheLysTyrGlyAspLeuLeuGlyHisLeuLysIleMetHisAspAlaIleGlyPheArgSerThrLeuThrGlyLysAsnTyrThrMetGluTrpTyrGluLeuPheGlnLeuGlyAsnCysThrPheProHisLeuArgProGluMetAspAlaProPheTrpCysAsnGlnGlyAlaAlaCysPhePheGluGlyIleAspAspValHisTrpLysGluAsnGlyThrLeuValGlnValAlaThrIleSerGlyAsnMetPheAsnGlnMetAlaLysTrpValLysGlnAspAsnGluThrGlyIleTyrTyrGluThrTrpAsnValLysAlaSerProGluLysGlyAlaGluThrTrpPheAspSerTyrAspCysSerLysPheValLeuArgThrPheAsnLysLeuAlaGluPheGlyAlaGluPheLysAsnIleGluThrAsnTyrThrArgIlePheLeuTyrSerGlyGluProThrTyrLeuGlyAsnGluThrSerValPheGlyProThrGlyAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696728", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000377453.9:c.242C>A" }, "RefSeq": { "hgvs": "NM_006493.4:c.242C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000366673.5:p.Ser81Ter" }, "RefSeq": { "hgvs": "NP_006484.2:p.Ser81Ter" } } } } ], "type": "nucleotide" }