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"ENSP00000456489.1:p.Leu95_Arg509delinsValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379928" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "T", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567411.5:c.284T>A" ], "proteinEffect": { "hgvs": "ENSP00000455545.1:p.Leu95Ter", "hgvsWellDefined": "ENSP00000455545.1:p.Leu95_Asp143delinsValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgValLeuTyrGlnGlnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380095" }, { "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "T", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000568260.1:c.265T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380658" }, { "coordinates": [ { "allele": "A", "end": 3867, "referenceAllele": "T", "start": 3866 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000568777.5:n.3867T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381014" }, { "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "T", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000569410.5:c.284T>A" ], "proteinEffect": { "hgvs": "ENSP00000457125.1:p.Leu95Ter", "hgvsWellDefined": "ENSP00000457125.1:p.Leu95_Gln373delinsValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrPheSerGlnThrGlnSerTyrArgCysGlyGluArgIlePheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381456" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "T", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000569509.5:n.289T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381521" }, { "@id": "http://reg.genome.network/allele/PA1139669423", "coordinates": [ { "allele": "A", "end": 491, "referenceAllele": "T", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.4:c.284T>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Leu95Ter", "hgvsWellDefined": "NP_000511.2:p.Leu95_Thr529delinsValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006577" }, { "@id": "http://reg.genome.network/allele/PA1139669423", "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.5:c.284T>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Leu95Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS510809" }, { "@id": "http://reg.genome.network/allele/PA2826999762", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "T", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.1:c.317T>A" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Leu106Ter", "hgvsWellDefined": "NP_001305754.1:p.Leu106_Thr540delinsValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513060" }, { "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.1:n.785T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527809" }, { "@id": "http://reg.genome.network/allele/PA1139669423", "coordinates": [ { "allele": "A", "end": 326, "referenceAllele": "T", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.6:c.284T>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Leu95Ter", "hgvsWellDefined": "NP_000511.2:p.Leu95_Thr529delinsValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674877", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268097.10:c.284T>A" }, "RefSeq": { "hgvs": "NM_000520.6:c.284T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268097.6:p.Leu95Ter" }, "RefSeq": { "hgvs": "NP_000511.2:p.Leu95Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826999762", "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "T", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.2:c.317T>A" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Leu106Ter", "hgvsWellDefined": "NP_001305754.1:p.Leu106_Thr540delinsValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684622" }, { "coordinates": [ { "allele": "A", "end": 326, "referenceAllele": "T", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.2:n.326T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703516" }, { "coordinates": [ { "allele": "A", "end": 326, "referenceAllele": "T", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.3:n.326T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730887" } ], "type": "nucleotide" }