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}, "referenceSequence": "http://reg.genome.network/refseq/RS371552" }, { "coordinates": [ { "allele": "T", "end": 1719, "endIntronDirection": "-", "endIntronOffset": 1497, "referenceAllele": "C", "start": 1719, "startIntronDirection": "-", "startIntronOffset": 1498 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000556336.5:c.1682-1498C>T" ], "proteinEffect": { "hgvs": "ENSP00000450445.1:n.1682-1498C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS372145" }, { "coordinates": [ { "allele": "T", "end": 2586, "referenceAllele": "C", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000557771.5:c.2548C>T" ], "proteinEffect": { "hgvs": "ENSP00000451219.1:p.Arg850Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS373296" }, { "@id": "http://reg.genome.network/allele/PA913194630", "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.3:c.2662C>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Arg888Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS036344" }, { "coordinates": [ { "allele": "T", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267879.2:c.1588C>T" ], "proteinEffect": { "hgvs": "XP_005267936.1:p.Arg530Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065540" }, { "coordinates": [ { "allele": "T", "end": 1621, "referenceAllele": "C", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267880.2:c.1555C>T" ], "proteinEffect": { "hgvs": "XP_005267937.1:p.Arg519Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065541" }, { "coordinates": [ { "allele": "T", "end": 1147, "referenceAllele": "C", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.2:c.1036C>T" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Arg346Ter", "hgvsWellDefined": 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"NP_065099.3:p.Arg888_Ser1286delinsAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.2662C>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.2662C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Arg888Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Arg888Ter" } } } } ], "type": "nucleotide" }