{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA223564", "communityStandardTitle": [ "NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101845[alleleid]", "alleleId": 101845, "preferredName": "NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95949", "RCV": [ "RCV000082001", "RCV000710048", "RCV001800387", "RCV001857395", "RCV001800386" ], "variationId": 95949 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-21795846-G-A", "id": "14-21795846-G-A", "variant": "14:21795846 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.21795846G>A?assembly=hg19", "id": "chr14:g.21795846G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.21327687G>A?assembly=hg38", "id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS273905" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000400017.6:c.2775G>A" ], "proteinEffect": { "hgvs": "ENSP00000382895.2:p.Trp925Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS278879" }, { "coordinates": [ { "allele": "A", "end": 1707, "referenceAllele": "G", "start": 1706 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000553927.1:n.1707G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS370243" }, { "coordinates": [ { "allele": "A", "end": 1202, "referenceAllele": "G", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555322.5:c.1202G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS371344" }, { "coordinates": [ { "allele": "A", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000555489.5:c.968G>A" ], "proteinEffect": { "hgvs": "ENSP00000451044.1:n.968G>A" }, "referenceSequence": 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"ENSP00000451262.1:p.Trp400_Ser761delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS371552" }, { "coordinates": [ { "allele": "A", "end": 1784, "referenceAllele": "G", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000556336.5:c.1746G>A" ], "proteinEffect": { "hgvs": "ENSP00000450445.1:p.Trp582Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS372145" }, { "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "G", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "ENST00000557771.5:c.2661G>A" ], "proteinEffect": { "hgvs": "ENSP00000451219.1:p.Trp887Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS373296" }, { "@id": "http://reg.genome.network/allele/PA223565", "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.3:c.2775G>A" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Trp925Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS036344" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267879.2:c.1701G>A" ], "proteinEffect": { "hgvs": "XP_005267936.1:p.Trp567Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065540" }, { "coordinates": [ { "allele": "A", "end": 1734, "referenceAllele": "G", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267880.2:c.1668G>A" ], "proteinEffect": { "hgvs": "XP_005267937.1:p.Trp556Ter", "hgvsWellDefined": "XP_005267937.1:p.Trp556_Ser918delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065541" }, { "coordinates": [ { "allele": "A", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.2:c.1149G>A" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Trp383Ter", "hgvsWellDefined": "XP_005267938.1:p.Trp383_Ser745delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065542" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536978.1:c.1701G>A" ], "proteinEffect": { "hgvs": "XP_011535280.1:p.Trp567Ter", "hgvsWellDefined": "XP_011535280.1:p.Trp567_Ser928delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103948" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "G", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536979.1:c.1485G>A" ], "proteinEffect": { "hgvs": "XP_011535281.1:p.Trp495Ter", "hgvsWellDefined": "XP_011535281.1:p.Trp495_Ser857delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103949" }, { "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536980.1:c.1356G>A" ], "proteinEffect": { "hgvs": "XP_011535282.1:p.Trp452Ter", "hgvsWellDefined": "XP_011535282.1:p.Trp452_Ser814delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103950" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536981.1:c.1206G>A" ], "proteinEffect": { "hgvs": "XP_011535283.1:p.Trp402Ter", "hgvsWellDefined": "XP_011535283.1:p.Trp402_Ser764delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103951" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536982.1:c.861G>A" ], "proteinEffect": { "hgvs": "XP_011535284.1:p.Trp287Ter", "hgvsWellDefined": "XP_011535284.1:p.Trp287_Ser649delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103952" }, { "coordinates": [ { "allele": "A", "end": 2757, "referenceAllele": "G", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_011536983.1:c.2742G>A" ], "proteinEffect": { "hgvs": "XP_011535285.1:p.Trp914Ter", "hgvsWellDefined": "XP_011535285.1:p.Trp914_Ser1275delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103953" }, { "coordinates": [ { "allele": "A", "end": 1262, "referenceAllele": "G", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_005267881.3:c.1149G>A" ], "proteinEffect": { "hgvs": "XP_005267938.1:p.Trp383Ter", "hgvsWellDefined": "XP_005267938.1:p.Trp383_Ser745delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536479" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_017021473.1:c.1206G>A" ], "proteinEffect": { "hgvs": "XP_016876962.1:p.Trp402Ter", "hgvsWellDefined": "XP_016876962.1:p.Trp402_Ser763delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572674" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449663.1:c.1701G>A" ], "proteinEffect": { "hgvs": "XP_024305431.1:p.Trp567Ter", "hgvsWellDefined": "XP_024305431.1:p.Trp567_Ser927delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583210" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449664.1:c.1206G>A" ], "proteinEffect": { "hgvs": "XP_024305432.1:p.Trp402Ter", "hgvsWellDefined": "XP_024305432.1:p.Trp402_Ser762delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583211" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449665.1:c.861G>A" ], "proteinEffect": { "hgvs": "XP_024305433.1:p.Trp287Ter", "hgvsWellDefined": "XP_024305433.1:p.Trp287_Ser648delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583212" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "XM_024449666.1:c.861G>A" ], "proteinEffect": { "hgvs": "XP_024305434.1:p.Trp287Ter", "hgvsWellDefined": "XP_024305434.1:p.Trp287_Ser647delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583213" }, { "@id": "http://reg.genome.network/allele/PA2828722801", "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377523.1:c.753G>A" ], "proteinEffect": { "hgvs": "NP_001364452.1:p.Trp251Ter", "hgvsWellDefined": "NP_001364452.1:p.Trp251_Ser612delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695273" }, { "@id": "http://reg.genome.network/allele/PA2828731918", "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377948.1:c.1701G>A" ], "proteinEffect": { "hgvs": "NP_001364877.1:p.Trp567Ter", "hgvsWellDefined": "NP_001364877.1:p.Trp567_Ser928delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721330" }, { "@id": "http://reg.genome.network/allele/PA2828732137", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377949.1:c.861G>A" ], "proteinEffect": { "hgvs": "NP_001364878.1:p.Trp287Ter", "hgvsWellDefined": "NP_001364878.1:p.Trp287_Ser648delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721331" }, { "@id": "http://reg.genome.network/allele/PA2828732427", "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377950.1:c.753G>A" ], "proteinEffect": { "hgvs": "NP_001364879.1:p.Trp251Ter", "hgvsWellDefined": "NP_001364879.1:p.Trp251_Ser612delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721332" }, { "@id": "http://reg.genome.network/allele/PA2828732658", "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_001377951.1:c.255G>A" ], "proteinEffect": { "hgvs": "NP_001364880.1:p.Trp85Ter", "hgvsWellDefined": "NP_001364880.1:p.Trp85_Ser447delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAlaAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721333" }, { "@id": "http://reg.genome.network/allele/PA223565", "coordinates": [ { "allele": "A", "end": 2890, "referenceAllele": "G", "start": 2889 } ], "gene": "http://reg.genome.network/gene/GN013436", "geneNCBI_id": 57096, "geneSymbol": "RPGRIP1", "hgvs": [ "NM_020366.4:c.2775G>A" ], "proteinEffect": { "hgvs": "NP_065099.3:p.Trp925Ter", "hgvsWellDefined": "NP_065099.3:p.Trp925_Ser1286delinsLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000400017.7:c.2775G>A" }, "RefSeq": { "hgvs": "NM_020366.4:c.2775G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382895.2:p.Trp925Ter" }, "RefSeq": { "hgvs": "NP_065099.3:p.Trp925Ter" } } } } ], "type": "nucleotide" }