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}, "referenceSequence": "http://reg.genome.network/refseq/RS585885" }, { "coordinates": [ { "allele": "A", "end": 1783, "referenceAllele": "G", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XR_001755695.1:n.1783G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601328" }, { "@id": "http://reg.genome.network/allele/PA645511074", "coordinates": [ { "allele": "A", "end": 1785, "referenceAllele": "G", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_000444.6:c.1104G>A" ], "proteinEffect": { "hgvs": "NP_000435.3:p.Trp368Ter", "hgvsWellDefined": "NP_000435.3:p.Trp368_Trp749delinsArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379374.5:c.1104G>A" }, "RefSeq": { "hgvs": "NM_000444.6:c.1104G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368682.4:p.Trp368Ter" }, "RefSeq": { "hgvs": "NP_000435.3:p.Trp368Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916013908", "coordinates": [ { "allele": "A", "end": 1785, "referenceAllele": "G", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_001282754.2:c.1104G>A" ], "proteinEffect": { "hgvs": "NP_001269683.1:p.Trp368Ter", "hgvsWellDefined": "NP_001269683.1:p.Trp368_Asn695delinsArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681890" } ], "type": "nucleotide" }