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}, "referenceSequence": "http://reg.genome.network/refseq/RS022224" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545533.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_011543835.1:p.Arg39Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS112434" }, { "coordinates": [ { "allele": "T", "end": 1550, "referenceAllele": "C", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545535.1:c.871C>T" ], "proteinEffect": { "hgvs": "XP_011543837.1:p.Arg291Ter", "hgvsWellDefined": "XP_011543837.1:p.Arg291_Tyr475delinsThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysValGlyProLeuSerGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112435" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_017029579.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_016885068.1:p.Arg39Ter", "hgvsWellDefined": "XP_016885068.1:p.Arg39_Trp497delinsThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579097" }, { "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_024452390.1:c.580C>T" ], "proteinEffect": { "hgvs": "XP_024308158.1:p.Arg194Ter", "hgvsWellDefined": "XP_024308158.1:p.Arg194_Trp652delinsThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585885" }, { "coordinates": [ { "allele": "T", "end": 1550, "referenceAllele": "C", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XR_001755695.1:n.1550C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601328" }, { "@id": "http://reg.genome.network/allele/PA645377040", "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_000444.6:c.871C>T" ], "proteinEffect": { "hgvs": "NP_000435.3:p.Arg291Ter", "hgvsWellDefined": "NP_000435.3:p.Arg291_Trp749delinsThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379374.5:c.871C>T" }, "RefSeq": { "hgvs": "NM_000444.6:c.871C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368682.4:p.Arg291Ter" }, "RefSeq": { "hgvs": "NP_000435.3:p.Arg291Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916013893", "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_001282754.2:c.871C>T" ], "proteinEffect": { "hgvs": "NP_001269683.1:p.Arg291Ter", "hgvsWellDefined": "NP_001269683.1:p.Arg291_Asn695delinsThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681890" } ], "type": "nucleotide" }