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"XP_011534920.1:p.Glu329_Arg629delinsThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103603" }, { "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "G", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.2:c.985G>T" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Glu329Ter", "hgvsWellDefined": "XP_011534920.1:p.Glu329_Arg629delinsThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552566" }, { "@id": "http://reg.genome.network/allele/PA252878", "coordinates": [ { "allele": "T", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.4:c.1153G>T" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Glu385Ter", "hgvsWellDefined": "NP_000144.2:p.Glu385_Arg685delinsThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662329", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.1153G>T" }, "RefSeq": { "hgvs": "NM_000153.4:c.1153G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Glu385Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Glu385Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826254005", "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "G", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.2:c.1084G>T" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Glu362Ter", "hgvsWellDefined": "NP_001188330.1:p.Glu362_Arg662delinsThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714057" }, { "@id": "http://reg.genome.network/allele/PA2826254610", "coordinates": [ { "allele": "T", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.2:c.1075G>T" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Glu359Ter", "hgvsWellDefined": "NP_001188331.1:p.Glu359_Arg659delinsThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714058" } ], "type": "nucleotide" }