{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412572078", "communityStandardTitle": [ "NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1678046[alleleid]", "alleleId": 1678046, "preferredName": "NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1686034", "RCV": [ "RCV002250201" ], "variationId": 1686034 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.22108588C>A?assembly=hg19", "id": "chrX:g.22108588C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.22090470C>A?assembly=hg38", "id": "chrX:g.22090470C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2147035526", "rs": 2147035526 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 22090470, 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"ENSP00000368682.4:p.Tyr235_Trp749delinsLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" 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"ENSP00000368682.4:p.Tyr235_Trp749delinsLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272467" }, { "@id": "http://reg.genome.network/allele/PA2825172097", "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_000444.5:c.705C>A" ], "proteinEffect": { "hgvs": "NP_000435.3:p.Tyr235Ter", "hgvsWellDefined": "NP_000435.3:p.Tyr235_Trp749delinsLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006506" }, { "@id": "http://reg.genome.network/allele/PA2573194237", "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_001282754.1:c.705C>A" ], "proteinEffect": { "hgvs": "NP_001269683.1:p.Tyr235Ter", "hgvsWellDefined": "NP_001269683.1:p.Tyr235_Asn695delinsLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022224" }, { "coordinates": [ { "allele": "A", "end": 76, "referenceAllele": "C", "start": 75 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545533.1:c.-52C>A" ], "proteinEffect": { "hgvs": "XP_011543835.1:n.-52C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS112433" }, { "coordinates": [ { "allele": "A", "end": 105, "referenceAllele": "C", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545534.1:c.-52C>A" ], "proteinEffect": { "hgvs": "XP_011543836.1:n.-52C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS112434" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_011545535.1:c.705C>A" ], "proteinEffect": { "hgvs": "XP_011543837.1:p.Tyr235Ter", "hgvsWellDefined": "XP_011543837.1:p.Tyr235_Tyr475delinsLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysValGlyProLeuSerGluTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112435" }, { "coordinates": [ { "allele": "A", "end": 77, "referenceAllele": "C", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_017029579.1:c.-52C>A" ], "proteinEffect": { "hgvs": "XP_016885068.1:n.-52C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS579097" }, { "coordinates": [ { "allele": "A", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XM_024452390.1:c.414C>A" ], "proteinEffect": { "hgvs": "XP_024308158.1:p.Tyr138Ter", "hgvsWellDefined": "XP_024308158.1:p.Tyr138_Trp652delinsLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585885" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "XR_001755695.1:n.1384C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601328" }, { "@id": "http://reg.genome.network/allele/PA2825172097", "coordinates": [ { "allele": "A", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_000444.6:c.705C>A" ], "proteinEffect": { "hgvs": "NP_000435.3:p.Tyr235Ter", "hgvsWellDefined": "NP_000435.3:p.Tyr235_Trp749delinsLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662448", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379374.5:c.705C>A" }, "RefSeq": { "hgvs": "NM_000444.6:c.705C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000368682.4:p.Tyr235Ter" }, "RefSeq": { "hgvs": "NP_000435.3:p.Tyr235Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573194237", "coordinates": [ { "allele": "A", "end": 1386, "referenceAllele": "C", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN008918", "geneNCBI_id": 5251, "geneSymbol": "PHEX", "hgvs": [ "NM_001282754.2:c.705C>A" ], "proteinEffect": { "hgvs": "NP_001269683.1:p.Tyr235Ter", "hgvsWellDefined": "NP_001269683.1:p.Tyr235_Asn695delinsLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681890" } ], "type": "nucleotide" }