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"referenceSequence": "http://reg.genome.network/refseq/RS011454" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529976.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011528278.1:p.Gln210Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS097035" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Gln210Ter", "hgvsWellDefined": "XP_011528279.1:p.Gln210_Ser526delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097036" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529978.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011528280.1:p.Gln210Ter", "hgvsWellDefined": "XP_011528280.1:p.Gln210_Lys514delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097037" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529979.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011528281.1:p.Gln210Ter", "hgvsWellDefined": "XP_011528281.1:p.Gln210_Phe480delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097038" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011528282.1:p.Gln210Ter", "hgvsWellDefined": "XP_011528282.1:p.Gln210_Ser467delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097039" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529981.1:c.163C>T" ], "proteinEffect": { "hgvs": "XP_011528283.1:p.Gln55Ter", "hgvsWellDefined": "XP_011528283.1:p.Gln55_Lys418delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer" 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"T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.4:c.628C>T" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Gln210Ter", "hgvsWellDefined": "NP_000017.1:p.Gln210_Leu484delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.628C>T" }, "RefSeq": { "hgvs": "NM_000026.4:c.628C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Gln210Ter" }, "RefSeq": { "hgvs": "NP_000017.1:p.Gln210Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573209032", "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.2:c.628C>T" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Gln210Ter", "hgvsWellDefined": "NP_001350769.1:p.Gln210_Phe480delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690783" }, { "@id": "http://reg.genome.network/allele/PA2825589875", "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.3:c.628C>T" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Gln210Ter", "hgvsWellDefined": "NP_001116850.1:p.Gln210_Leu425delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712166" }, { "@id": "http://reg.genome.network/allele/PA2826972230", "coordinates": [ { "allele": "T", "end": 632, "referenceAllele": "C", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.2:c.436C>T" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Gln146Ter", "hgvsWellDefined": "NP_001304852.1:p.Gln146_Leu420delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717463" }, { "@id": "http://reg.genome.network/allele/PA2573209032", "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.3:c.628C>T" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Gln210Ter", "hgvsWellDefined": "NP_001350769.1:p.Gln210_Phe480delinsLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720801" }, { "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.2:n.687C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730851" } ], "type": "nucleotide" }