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}, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.474C>A" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Cys158Ter", "hgvsWellDefined": "XP_011511762.1:p.Cys158_Pro606delinsSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.408C>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Cys136Ter", "hgvsWellDefined": "XP_011511763.1:p.Cys136_Pro584delinsSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "A", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.327C>A" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Cys109Ter", "hgvsWellDefined": "XP_011511764.1:p.Cys109_Pro557delinsSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.327C>A" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Cys109Ter", "hgvsWellDefined": "XP_011511765.1:p.Cys109_Pro557delinsSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "C", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.684C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA2825082397", "coordinates": [ { "allele": "A", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.615C>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Cys205Ter", "hgvsWellDefined": "NP_000194.2:p.Cys205_Pro653delinsSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.615C>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.615C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Cys205Ter" }, "RefSeq": { "hgvs": "NP_000194.2:p.Cys205Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139741404", "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.219C>A" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Cys73Ter", "hgvsWellDefined": "NP_001350505.1:p.Cys73_Pro521delinsSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "A", "end": 848, "referenceAllele": "C", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.408C>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Cys136Ter", "hgvsWellDefined": "XP_011511763.1:p.Cys136_Pro584delinsSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-346C>A" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-346C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }