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"referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.1:c.734G>A" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Trp245Ter", "hgvsWellDefined": "NP_001020115.1:p.Trp245_Ala444delinsAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008814" }, { "@id": "http://reg.genome.network/allele/PA2825338801", "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.1:c.656G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Trp219Ter", "hgvsWellDefined": "NP_001020117.1:p.Trp219_Ala438delinsAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008815" }, { "@id": "http://reg.genome.network/allele/PA2825028459", "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.4:c.734G>A" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Trp245Ter", "hgvsWellDefined": "NP_000039.2:p.Trp245_Ala464delinsAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.734G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.734G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Trp245Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Trp245Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA658831396", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.2:c.734G>A" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Trp245Ter", "hgvsWellDefined": "NP_001020114.1:p.Trp245_Ala464delinsAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675647" }, { "@id": "http://reg.genome.network/allele/PA915957101", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.2:c.734G>A" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Trp245Ter", "hgvsWellDefined": "NP_001020115.1:p.Trp245_Ala444delinsAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675648" }, { "@id": "http://reg.genome.network/allele/PA2825338801", "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.2:c.656G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Trp219Ter", "hgvsWellDefined": "NP_001020117.1:p.Trp219_Ala438delinsAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675649" } ], "type": "nucleotide" }