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}, "referenceSequence": "http://reg.genome.network/refseq/RS065541" }, { "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.2:c.928C>T" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Arg310Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065542" }, { "coordinates": [ { "allele": "T", "end": 1546, "referenceAllele": "C", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536978.1:c.1480C>T" ], "proteinEffect": { "hgvs": "XP_011535280.1:p.Arg494Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS103950" }, { "coordinates": [ { "allele": "T", "end": 1207, "endIntronDirection": "+", "endIntronOffset": 947, "referenceAllele": "C", "start": 1207, "startIntronDirection": "+", "startIntronOffset": 946 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536981.1:c.1141+947C>T" ], "proteinEffect": { "hgvs": "XP_011535283.1:n.1141+947C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103951" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 1292, "referenceAllele": "C", "start": 862, "startIntronDirection": "+", "startIntronOffset": 1291 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536982.1:c.796+1292C>T" ], "proteinEffect": { "hgvs": "XP_011535284.1:n.796+1292C>T" }, "referenceSequence": 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"http://reg.genome.network/refseq/RS721332" }, { "coordinates": [ { "allele": "T", "end": 348, "endIntronDirection": "-", "endIntronOffset": 1605, "referenceAllele": "C", "start": 348, "startIntronDirection": "-", "startIntronOffset": 1606 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377951.1:c.191-1606C>T" ], "proteinEffect": { "hgvs": "NP_001364880.1:n.191-1606C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721333" }, { "@id": "http://reg.genome.network/allele/PA658819759", "coordinates": [ { "allele": "T", "end": 2669, "referenceAllele": "C", "start": 2668 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.4:c.2554C>T" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Arg852Ter", "hgvsWellDefined": "NP_065099.3:p.Arg852_Ser1286delinsPheProValLeuValThrSerAspLeuAspHisTyrLeuArgArgGluAlaLeuSerIleHisValPheAspAspGluAspLeuGluProGlySerTyrLeuGlyArgAlaArgValProLeuLeuProLeuAlaLysAsnGluSerIleLysGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.2554C>T" }, "RefSeq": { "hgvs": "NM_020366.4:c.2554C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Arg852Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Arg852Ter" } } } } ], "type": "nucleotide" }