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"http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_000478.6:c.997G>T" ], "proteinEffect": { "hgvs": "NP_000469.3:p.Gly333Ter", "hgvsWellDefined": "NP_000469.3:p.Gly334_Phe524delinsArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662456", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374840.8:c.997G>T" }, "RefSeq": { "hgvs": "NM_000478.6:c.997G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363973.3:p.Gly333Ter" }, "RefSeq": { "hgvs": "NP_000469.3:p.Gly333Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825623751", "coordinates": [ { "allele": "T", "end": 1031, "referenceAllele": "G", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001127501.4:c.832G>T" ], "proteinEffect": { "hgvs": "NP_001120973.2:p.Gly278Ter", "hgvsWellDefined": "NP_001120973.2:p.Gly279_Phe469delinsArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676900" }, { "@id": "http://reg.genome.network/allele/PA2826119118", "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001177520.3:c.766G>T" ], "proteinEffect": { "hgvs": "NP_001170991.1:p.Gly256Ter", "hgvsWellDefined": "NP_001170991.1:p.Gly257_Phe447delinsArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678885" }, { "@id": "http://reg.genome.network/allele/PA2828362503", "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369803.2:c.997G>T" ], "proteinEffect": { "hgvs": "NP_001356732.1:p.Gly333Ter", "hgvsWellDefined": "NP_001356732.1:p.Gly334_Phe524delinsArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691985" }, { "@id": "http://reg.genome.network/allele/PA2828363244", "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "G", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369804.2:c.997G>T" ], "proteinEffect": { "hgvs": "NP_001356733.1:p.Gly333Ter", "hgvsWellDefined": "NP_001356733.1:p.Gly334_Phe524delinsArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691986" }, { "@id": "http://reg.genome.network/allele/PA2499254455", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN000438", "geneNCBI_id": 249, "geneSymbol": "ALPL", "hgvs": [ "NM_001369805.2:c.997G>T" ], "proteinEffect": { "hgvs": "NP_001356734.1:p.Gly333Ter", "hgvsWellDefined": "NP_001356734.1:p.Gly334_Phe524delinsArgIleAspHisGlyHisHisGluGlyLysAlaLysGlnAlaLeuHisGluAlaValGluMetAspArgAlaIleGlyGlnAlaGlySerLeuThrSerSerGluAspThrLeuThrValValThrAlaAspHisSerHisValPheThrPheGlyGlyTyrThrProArgGlyAsnSerIlePheGlyLeuAlaProMetLeuSerAspThrAspLysLysProPheThrAlaIleLeuTyrGlyAsnGlyProGlyTyrLysValValGlyGlyGluArgGluAsnValSerMetValAspTyrAlaHisAsnAsnTyrGlnAlaGlnSerAlaValProLeuArgHisGluThrHisGlyGlyGluAspValAlaValPheSerLysGlyProMetAlaHisLeuLeuHisGlyValHisGluGlnAsnTyrValProHisValMetAlaTyrAlaAlaCysIleGlyAlaAsnLeuGlyHisCysAlaProAlaSerSerAlaGlySerLeuAlaAlaGlyProLeuLeuLeuAlaLeuAlaLeuTyrProLeuSerValLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691987" } ], "type": "nucleotide" }