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"geneSymbol": "PHEX", "hgvs": [ "XM_024452390.1:c.1245T>G" ], "proteinEffect": { "hgvs": "XP_024308158.1:p.Tyr415Ter", "hgvsWellDefined": "XP_024308158.1:p.Tyr415_Trp652delinsLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585885" }, { "coordinates": [ { "allele": "G", "end": 2376, "referenceAllele": "T", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XR_001755695.1:n.2376T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601328" }, { "@id": "http://reg.genome.network/allele/PA2825172236", "coordinates": [ { "allele": "G", "end": 2217, "referenceAllele": "T", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_000444.6:c.1536T>G" ], "proteinEffect": { "hgvs": "NP_000435.3:p.Tyr512Ter", "hgvsWellDefined": "NP_000435.3:p.Tyr512_Trp749delinsLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379374.5:c.1536T>G" }, "RefSeq": { "hgvs": "NM_000444.6:c.1536T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368682.4:p.Tyr512Ter" }, "RefSeq": { "hgvs": "NP_000435.3:p.Tyr512Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573194284", "coordinates": [ { "allele": "G", "end": 2217, "referenceAllele": "T", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_001282754.2:c.1536T>G" ], "proteinEffect": { "hgvs": "NP_001269683.1:p.Tyr512Ter", "hgvsWellDefined": "NP_001269683.1:p.Tyr512_Asn695delinsLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681890" } ], "type": "nucleotide" }