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"ENSP00000506834.1:p.Trp24_Gln373delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrPheSerGlnThrGlnSerTyrArgCysGlyGluArgIlePheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828820" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683860.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000507179.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000507179.1:p.Trp24_Phe485delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProGluArgGluGlnAlaValGlnArgAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828827" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683884.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000507004.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000507004.1:p.Trp24_Trp390delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysValProLeuSerArgArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828851" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684041.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000508382.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000508382.1:p.Trp24_Trp474delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829002" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684125.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000507320.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000507320.1:p.Trp24_Pro360delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829083" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684203.1:n.89G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829160" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684231.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000507748.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000507748.1:p.Trp24_Gln143delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyCysHisGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829188" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684263.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000508369.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000508369.1:p.Trp24_Thr358delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829220" }, { "coordinates": [ { "allele": "A", "end": 72, "referenceAllele": "G", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684305.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000506819.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000506819.1:p.Trp24_Ser121delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGluThrGlyLeuSerLeuSerPheArgLeuGluCysSerGlyValIleThrAlaTyrSerAsnLeuGluLeuGlnAspSerSerSerLeuProAlaSerLeuMetSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829261" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684415.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000507227.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000507227.1:p.Trp24_Thr358delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829370" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684520.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000506826.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000506826.1:p.Trp24_Trp474delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829473" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684602.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000507996.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000507996.1:p.Trp24_Tyr88delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrAlaAsnMetTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829554" }, { "coordinates": [ { "allele": "A", "end": 72, "referenceAllele": "G", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684667.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000507003.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000507003.1:p.Trp24_Ser121delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGluThrGlyLeuSerLeuSerPheArgLeuGluCysSerGlyValIleThrAlaTyrSerAsnLeuGluLeuGlnAspSerSerSerLeuProAlaSerLeuMetSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829618" }, { "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000268097.10:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000268097.6:p.Trp24Ter", "hgvsWellDefined": "ENSP00000268097.6:p.Trp24_Thr529delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743027", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268097.10:c.72G>A" }, "RefSeq": { "hgvs": "NM_000520.6:c.72G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268097.6:p.Trp24Ter" }, "RefSeq": { "hgvs": "NP_000511.2:p.Trp24Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "G", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000268097.9:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000268097.5:p.Trp24Ter", "hgvsWellDefined": "ENSP00000268097.5:p.Trp24_Thr529delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252048" }, { "coordinates": [ { "allele": "A", "end": 81, "referenceAllele": "G", "start": 80 } ], "hgvs": [ "ENST00000379915.4:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000478716.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000478716.1:p.Trp24_Val227delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgLeuGlnGlyArgArgMetCysLeuArgLeuArgGlyLysLysValValLysAspThrGluAspArgAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272694" }, { "coordinates": [ { "allele": "A", "end": 72, "referenceAllele": "G", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000563762.5:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000456346.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000456346.1:p.Trp24_Tyr88delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrAlaAsnMetTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377635" }, { "coordinates": [ { "allele": "A", "end": 69, "referenceAllele": "G", "start": 68 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000563908.1:n.69G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS377734" }, { "coordinates": [ { "allele": "A", "end": 93, "referenceAllele": "G", "start": 92 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000566304.5:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000455114.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000455114.1:p.Trp24_Thr540delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379341" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000566672.5:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000457037.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000457037.1:p.Trp24_Gln143delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyCysHisGlyValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379607" }, { "coordinates": [ { "allele": "A", "end": 93, "referenceAllele": "G", "start": 92 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567159.5:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000456489.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000456489.1:p.Trp24_Arg509delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379928" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567213.2:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000478217.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000478217.1:p.Trp24_Ser119delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLeuSerLeuSerPheArgLeuGluCysSerGlyValIleThrAlaTyrSerAsnLeuGluLeuGlnAspSerSerSerLeuProAlaSerLeuMetSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379965" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567411.5:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000455545.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000455545.1:p.Trp24_Asp143delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgValLeuTyrGlnGlnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380095" }, { "coordinates": [ { "allele": "A", "end": 53, "referenceAllele": "G", "start": 52 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000568260.1:c.53G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380658" }, { "coordinates": [ { "allele": "A", "end": 75, "referenceAllele": "G", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000569410.5:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000457125.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000457125.1:p.Trp24_Gln373delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrPheSerGlnThrGlnSerTyrArgCysGlyGluArgIlePheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381456" }, { "coordinates": [ { "allele": "A", "end": 146, "endIntronDirection": "-", "endIntronOffset": 69, "referenceAllele": "G", "start": 146, "startIntronDirection": "-", "startIntronOffset": 70 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000569509.5:n.147-70G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381521" }, { "@id": "http://reg.genome.network/allele/PA658827358", "coordinates": [ { "allele": "A", "end": 279, "referenceAllele": "G", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.4:c.72G>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Trp24Ter", "hgvsWellDefined": "NP_000511.2:p.Trp24_Thr529delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006577" }, { "@id": "http://reg.genome.network/allele/PA658827358", "coordinates": [ { "allele": "A", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.5:c.72G>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Trp24Ter", "hgvsWellDefined": "NP_000511.2:p.Trp24_Thr529delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510809" }, { "@id": "http://reg.genome.network/allele/PA916022657", "coordinates": [ { "allele": "A", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.1:c.72G>A" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Trp24Ter", "hgvsWellDefined": "NP_001305754.1:p.Trp24_Thr540delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513060" }, { "coordinates": [ { "allele": "A", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.1:n.573G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527809" }, { "@id": "http://reg.genome.network/allele/PA658827358", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.6:c.72G>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Trp24Ter", "hgvsWellDefined": "NP_000511.2:p.Trp24_Thr529delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674877", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268097.10:c.72G>A" }, "RefSeq": { "hgvs": "NM_000520.6:c.72G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268097.6:p.Trp24Ter" }, "RefSeq": { "hgvs": "NP_000511.2:p.Trp24Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916022657", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.2:c.72G>A" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Trp24Ter", "hgvsWellDefined": "NP_001305754.1:p.Trp24_Thr540delinsProTrpProGlnAsnPheGlnThrSerAspGlnArgTyrValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684622" }, { "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.2:n.114G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703516" }, { "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.3:n.114G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730887" } ], "type": "nucleotide" }