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"ENSP00000505092.1:p.Lys1174_Asn1657delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779783" }, { "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "A", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680174.1:n.4211A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779794" }, { "coordinates": [ { "allele": "T", "end": 3791, "referenceAllele": "A", "start": 3790 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680236.1:c.*581A>T" ], "proteinEffect": { "hgvs": "ENSP00000506212.1:n.*581A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779856" }, { "coordinates": [ { "allele": "T", "end": 3880, "referenceAllele": "A", "start": 3879 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680497.1:c.3622A>T" ], "proteinEffect": { "hgvs": "ENSP00000505954.1:p.Lys1208Ter", "hgvsWellDefined": "ENSP00000505954.1:p.Lys1208_Asn1691delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780113" }, { "coordinates": [ { "allele": "T", "end": 3862, "referenceAllele": "A", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680508.1:c.3520A>T" ], "proteinEffect": { "hgvs": "ENSP00000505749.1:p.Lys1174Ter", "hgvsWellDefined": "ENSP00000505749.1:p.Lys1174_Asp1620delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaSerIlePhePheSerLeuGlyGlnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780124" }, { "coordinates": [ { "allele": "T", "end": 3952, "referenceAllele": "A", "start": 3951 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680569.1:c.*1231A>T" ], "proteinEffect": { "hgvs": "ENSP00000505522.1:n.*1231A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780184" }, { "coordinates": [ { "allele": "T", "end": 3952, "referenceAllele": "A", "start": 3951 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680630.1:n.3952A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780245" }, { "coordinates": [ { "allele": "T", "end": 20, "endIntronDirection": "-", "endIntronOffset": 2944, "referenceAllele": "A", "start": 20, "startIntronDirection": "-", "startIntronOffset": 2945 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680634.1:n.21-2945A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780249" }, { "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "A", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680722.1:n.1320A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780337" }, { "coordinates": [ { "allele": "T", "end": 4303, "referenceAllele": "A", "start": 4302 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680723.1:n.4303A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780338" }, { "coordinates": [ { "allele": "T", "end": 3862, "referenceAllele": "A", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680726.1:c.3520A>T" ], "proteinEffect": { "hgvs": "ENSP00000505505.1:p.Lys1174Ter", "hgvsWellDefined": "ENSP00000505505.1:p.Lys1174_Thr1565delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleArgGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780341" }, { "coordinates": [ { "allele": "T", "end": 3791, "referenceAllele": "A", "start": 3790 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680737.1:n.3791A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780352" }, { "coordinates": [ { "allele": "T", "end": 3862, "referenceAllele": "A", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680759.1:c.3520A>T" ], "proteinEffect": { "hgvs": "ENSP00000505848.1:p.Lys1174Ter", "hgvsWellDefined": "ENSP00000505848.1:p.Lys1174_Asn1601delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780374" }, { "coordinates": [ { "allele": "T", "end": 3862, "referenceAllele": "A", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680814.1:c.3520A>T" ], "proteinEffect": { "hgvs": "ENSP00000505710.1:p.Lys1174Ter", "hgvsWellDefined": "ENSP00000505710.1:p.Lys1174_Glu1614delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780429" }, { "coordinates": [ { "allele": "T", "end": 3681, "referenceAllele": "A", "start": 3680 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680828.1:c.*1092A>T" ], "proteinEffect": { "hgvs": "ENSP00000505249.1:n.*1092A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780443" }, { "coordinates": [ { "allele": "T", "end": 4011, "referenceAllele": "A", "start": 4010 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "ENST00000680861.1:c.3520A>T" ], "proteinEffect": { "hgvs": "ENSP00000505043.1:p.Lys1174Ter", "hgvsWellDefined": 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"NP_065970.2:p.Lys1174_Asn1657delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036690" }, { "coordinates": [ { "allele": "T", "end": 3655, "referenceAllele": "A", "start": 3654 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_005246709.2:c.3520A>T" ], "proteinEffect": { "hgvs": "XP_005246766.1:p.Lys1174Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057757" }, { "coordinates": [ { "allele": "T", "end": 3685, "referenceAllele": "A", "start": 3684 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.1:c.3520A>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Lys1174Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069756" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "A", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.2:c.1456A>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:p.Lys486Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069757" }, { "coordinates": [ { "allele": "T", "end": 3599, "referenceAllele": "A", "start": 3598 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_011511530.1:c.3181A>T" ], "proteinEffect": { "hgvs": "XP_011509832.1:p.Lys1061Ter", "hgvsWellDefined": "XP_011509832.1:p.Lys1061_Asn1544delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078791" }, { "coordinates": [ { "allele": "T", "end": 3655, "referenceAllele": "A", "start": 3654 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_011511531.1:c.3520A>T" ], "proteinEffect": { "hgvs": "XP_011509833.1:p.Lys1174Ter", "hgvsWellDefined": "XP_011509833.1:p.Lys1174_Gln1342delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerLeuGlnAspLeuLeuTrpGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078792" }, { "coordinates": [ { "allele": "T", "end": 3655, "referenceAllele": "A", "start": 3654 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_922974.1:n.3655A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120036" }, { "coordinates": [ { "allele": "T", "end": 4480, "referenceAllele": "A", "start": 4479 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712654.3:c.3520A>T" ], "proteinEffect": { "hgvs": "XP_006712717.1:p.Lys1174Ter", "hgvsWellDefined": "XP_006712717.1:p.Lys1174_Asn1657delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538316" }, { "coordinates": [ { "allele": "T", "end": 2090, "referenceAllele": "A", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_006712655.3:c.1456A>T" ], "proteinEffect": { "hgvs": "XP_006712718.1:p.Lys486Ter", "hgvsWellDefined": "XP_006712718.1:p.Lys486_Asn969delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValPheArgLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538317" }, { "coordinates": [ { "allele": "T", "end": 3655, "referenceAllele": "A", "start": 3654 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_017004569.2:c.3520A>T" ], "proteinEffect": { "hgvs": "XP_016860058.1:p.Lys1174Ter", "hgvsWellDefined": "XP_016860058.1:p.Lys1174_Asn1656delinsTyrMetGlyMetTrpGlnAspAspValCysGlnGlyAsnGlyValValValThrGlnPheGlyLeuTyrTyrGluGlyAsnPheHisLeuAsnLysMetMetGlyAsnGlyValLeuLeuSerGluAspAspThrIleTyrGluGlyGluPheSerAspAspTrpThrLeuSerGlyLysGlyThrLeuThrMetProAsnGlyAspTyrIleGluGlyTyrPheSerGlyGluTrpGlySerGlyIleLysIleThrGlyThrTyrPheLysProSerLeuTyrGluSerAspLysAspArgProLysValLeuLysLeuGlyAsnLeuAlaValProAlaAspGluLysTrpLysAlaValPheAspGluCysTrpArgGlnLeuGlyCysGluGlyProGlyGlnGlyGluValTrpLysAlaTrpAspAsnIleAlaValAlaLeuThrThrSerArgArgGlnHisArgAspSerProGluIleLeuSerArgSerGlnThrGlnThrLeuGluSerLeuGluPheIleProGlnHisValGlyAlaPheSerValGluLysTyrAspAspIleArgLysTyrLeuIleLysAlaCysAspThrProLeuHisProLeuGlyArgLeuValGluThrLeuValAlaValTyrArgMetThrTyrValGlyValGlyAlaAsnArgArgLeuLeuGlnGluAlaValLysGluIleLysSerTyrLeuLysArgIlePheGlnLeuValArgPheLeuPheProGluLeuProGluGluGlySerThrIleProLeuSerAlaProLeuProThrGluArgLysSerPheCysThrGlyLysSerAspSerArgSerGluSerProGluProGlyTyrValValThrSerSerGlyLeuLeuLeuProValLeuLeuProArgLeuTyrProProLeuPheMetLeuTyrAlaLeuAspAsnAspArgGluGluAspIleTyrTrpGluCysValLeuArgLeuAsnLysGlnProAspIleAlaLeuLeuGlyPheLeuGlyValGlnArgLysPheTrpProAlaThrLeuSerIleLeuGlyGluSerLysLysValLeuProThrThrLysAspAlaCysPheAlaSerAlaValGluCysLeuGlnGlnIleSerThrThrPheThrProSerAspLysLeuLysValIleGlnGlnThrPheGluGluIleSerGlnSerValLeuAlaSerLeuHisGluAspPheLeuTrpSerMetAspAspLeuPheProValPheLeuTyrValValLeuArgAlaArgIleArgAsnLeuGlySerGluValHisLeuIleGluAspLeuMetAspProTyrLeuGlnHisGlyGluGlnGlyIleMetPheThrThrLeuLysAlaCysTyrTyrGlnIleGlnArgGluLysLeuAsnTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS586411" }, { "coordinates": [ { "allele": "T", "end": 2711, "referenceAllele": "A", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XM_024453025.1:c.1456A>T" ], "proteinEffect": { "hgvs": "XP_024308793.1:p.Lys486Ter", "hgvsWellDefined": 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3655, "referenceAllele": "A", "start": 3654 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_001738867.2:n.3655A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589307" }, { "coordinates": [ { "allele": "T", "end": 2711, "referenceAllele": "A", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "XR_002959320.1:n.2711A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605253" }, { "@id": "http://reg.genome.network/allele/PA916052192", "coordinates": [ { "allele": "T", "end": 3637, "referenceAllele": "A", "start": 3636 } ], "gene": "http://reg.genome.network/gene/GN000443", "geneNCBI_id": 57679, "geneSymbol": "ALS2", "hgvs": [ "NM_020919.4:c.3520A>T" ], "proteinEffect": { "hgvs": "NP_065970.2:p.Lys1174Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS670148", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264276.11:c.3520A>T" }, "RefSeq": { "hgvs": "NM_020919.4:c.3520A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264276.6:p.Lys1174Ter" }, "RefSeq": { "hgvs": "NP_065970.2:p.Lys1174Ter" } } } } ], "type": "nucleotide" }