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"XP_011511762.1:p.Tyr120_Pro606delinsGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.294C>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Tyr98Ter", "hgvsWellDefined": "XP_011511763.1:p.Tyr98_Pro584delinsGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "A", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.213C>A" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Tyr71Ter", "hgvsWellDefined": "XP_011511764.1:p.Tyr71_Pro557delinsGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.213C>A" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Tyr71Ter", "hgvsWellDefined": "XP_011511765.1:p.Tyr71_Pro557delinsGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "A", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.570C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA220512", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.501C>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Tyr167Ter", "hgvsWellDefined": "NP_000194.2:p.Tyr167_Pro653delinsGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.501C>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.501C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Tyr167Ter" }, "RefSeq": { "hgvs": "NP_000194.2:p.Tyr167Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916043809", "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.105C>A" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Tyr35Ter", "hgvsWellDefined": "NP_001350505.1:p.Tyr35_Pro521delinsGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "A", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.294C>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Tyr98Ter", "hgvsWellDefined": "XP_011511763.1:p.Tyr98_Pro584delinsGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "A", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-488C>A" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-488C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }