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"NM_000026.4:c.733C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Arg245Ter" }, "RefSeq": { "hgvs": "NP_000017.1:p.Arg245Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 637, "referenceAllele": "C", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623287.3:c.*158C>T" ], "proteinEffect": { "hgvs": "ENSP00000485437.1:n.*158C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS406041" }, { "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "C", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623632.3:c.688C>T" ], "proteinEffect": { "hgvs": "ENSP00000485288.1:p.Arg230Ter", "hgvsWellDefined": "ENSP00000485288.1:p.Arg230Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS406133" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623978.3:c.193C>T" ], "proteinEffect": { "hgvs": "ENSP00000485477.1:p.Arg65Ter", "hgvsWellDefined": "ENSP00000485477.1:p.Arg65_Leu134del" }, "referenceSequence": "http://reg.genome.network/refseq/RS406222" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "C", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000625194.3:c.320C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406535" }, { "@id": "http://reg.genome.network/allele/PA2825005706", "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.2:c.733C>T" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Arg245Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS097035" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.1:c.733C>T" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Arg245Ter", "hgvsWellDefined": "XP_011528279.1:p.Arg245_Ser526delinsLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097036" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529978.1:c.733C>T" ], "proteinEffect": { "hgvs": "XP_011528280.1:p.Arg245Ter", "hgvsWellDefined": "XP_011528280.1:p.Arg245_Lys514delinsLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097037" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 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"proteinEffect": { "hgvs": "XP_011528283.1:p.Arg90Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS097040" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529982.1:c.-284C>T" ], "proteinEffect": { "hgvs": "XP_011528284.1:n.-284C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS097041" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937824.1:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132626" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.1:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132627" }, { 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"gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.2:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Arg181Ter", "hgvsWellDefined": "NP_001304852.1:p.Arg181_Leu420delinsLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717463" }, { "@id": "http://reg.genome.network/allele/PA2573209037", "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.3:c.733C>T" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Arg245Ter", "hgvsWellDefined": "NP_001350769.1:p.Arg245_Phe480delinsLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720801" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.2:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730851" } ], "type": "nucleotide" }