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"hgvs": "ENSP00000448059.1:p.Leu11Ter", "hgvsWellDefined": "ENSP00000448059.1:p.Leu11_Lys452delinsGlyArgLysLeuSerAspPheGlyGlnGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369636" }, { "coordinates": [ { "allele": "A", "end": 28, "endIntronDirection": "-", "endIntronOffset": 4200, "referenceAllele": "T", "start": 28, "startIntronDirection": "-", "startIntronOffset": 4201 } ], "gene": "http://reg.genome.network/gene/GN008582", "geneNCBI_id": 5053, "geneSymbol": "PAH", "hgvs": [ "ENST00000635500.1:n.29-4201T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS408151" }, { "@id": "http://reg.genome.network/allele/PA2825137840", "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "T", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN008582", "geneNCBI_id": 5053, "geneSymbol": "PAH", "hgvs": [ "NM_000277.1:c.32T>A" ], "proteinEffect": { "hgvs": "NP_000268.1:p.Leu11Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006339" }, { "coordinates": [ { "allele": "A", "end": 147, "referenceAllele": "T", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN008582", "geneNCBI_id": 5053, "geneSymbol": "PAH", "hgvs": [ "XM_011538422.1:c.32T>A" ], "proteinEffect": { "hgvs": "XP_011536724.1:p.Leu11Ter", "hgvsWellDefined": "XP_011536724.1:p.Leu11_Lys433delinsGlyArgLysLeuSerAspPheGlyGlnGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105378" }, { "@id": "http://reg.genome.network/allele/PA2825137840", "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "T", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN008582", "geneNCBI_id": 5053, "geneSymbol": "PAH", "hgvs": [ "NM_000277.2:c.32T>A" ], "proteinEffect": { "hgvs": "NP_000268.1:p.Leu11Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS510774" }, { "@id": "http://reg.genome.network/allele/PA916037345", "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN008582", "geneNCBI_id": 5053, "geneSymbol": "PAH", "hgvs": [ "NM_001354304.1:c.32T>A" ], "proteinEffect": { "hgvs": "NP_001341233.1:p.Leu11Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS522305" }, { "coordinates": [ { "allele": "A", "end": 146, "referenceAllele": "T", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN008582", "geneNCBI_id": 5053, "geneSymbol": "PAH", "hgvs": [ "XM_017019370.2:c.32T>A" ], "proteinEffect": { "hgvs": "XP_016874859.1:p.Leu11Ter", "hgvsWellDefined": "XP_016874859.1:p.Leu11_Leu240delinsGlyArgLysLeuSerAspPheGlyGlnGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnIleProAlaValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571101" }, { "@id": "http://reg.genome.network/allele/PA2825137840", "coordinates": [ { "allele": "A", "end": 146, "referenceAllele": "T", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN008582", "geneNCBI_id": 5053, "geneSymbol": "PAH", "hgvs": [ "NM_000277.3:c.32T>A" ], "proteinEffect": { "hgvs": "NP_000268.1:p.Leu11Ter", "hgvsWellDefined": "NP_000268.1:p.Leu11_Lys452delinsGlyArgLysLeuSerAspPheGlyGlnGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662381", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000553106.6:c.32T>A" }, "RefSeq": { "hgvs": "NM_000277.3:c.32T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448059.1:p.Leu11Ter" }, "RefSeq": { "hgvs": "NP_000268.1:p.Leu11Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916037345", "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "T", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN008582", "geneNCBI_id": 5053, "geneSymbol": "PAH", "hgvs": [ "NM_001354304.2:c.32T>A" ], "proteinEffect": { "hgvs": "NP_001341233.1:p.Leu11Ter", "hgvsWellDefined": "NP_001341233.1:p.Leu11_Lys452delinsGlyArgLysLeuSerAspPheGlyGlnGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690142" } ], "type": "nucleotide" }