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"NP_001026851.2:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008984" }, { "@id": "http://reg.genome.network/allele/PA2499269275", "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_004937.2:c.61G>T" ], "proteinEffect": { "hgvs": "NP_004928.2:p.Glu21Ter", "hgvsWellDefined": "NP_004928.2:p.Glu21_Asn367delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030071" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_005256485.1:c.61G>T" ], "proteinEffect": { "hgvs": "XP_005256542.1:p.Glu21Ter", "hgvsWellDefined": "XP_005256542.1:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061334" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_006721463.1:c.61G>T" ], "proteinEffect": { "hgvs": "XP_006721526.1:p.Glu21Ter", "hgvsWellDefined": "XP_006721526.1:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074084" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_006721464.1:c.-296G>T" ], "proteinEffect": { "hgvs": "XP_006721527.1:n.-296G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS074085" }, { "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "G", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_011523691.1:c.61G>T" ], "proteinEffect": { "hgvs": "XP_011521993.1:p.Glu21Ter", "hgvsWellDefined": "XP_011521993.1:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090824" }, { "coordinates": [ { "allele": "T", "end": 574, "endIntronDirection": "+", "endIntronOffset": 2951, "referenceAllele": "G", "start": 574, "startIntronDirection": "+", "startIntronOffset": 2950 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_011523692.1:c.-381+2951G>T" ], "proteinEffect": { "hgvs": "XP_011521994.1:n.-381+2951G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS090825" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XR_934003.1:n.654G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129449" }, { "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "G", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_005256485.3:c.61G>T" ], "proteinEffect": { "hgvs": "XP_005256542.1:p.Glu21Ter", "hgvsWellDefined": "XP_005256542.1:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534485" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_006721463.3:c.61G>T" ], "proteinEffect": { "hgvs": "XP_006721526.1:p.Glu21Ter", "hgvsWellDefined": "XP_006721526.1:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540299" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_006721464.2:c.-296G>T" ], "proteinEffect": { "hgvs": "XP_006721527.1:n.-296G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540300" }, { "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "G", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_011523691.2:c.61G>T" ], "proteinEffect": { "hgvs": "XP_011521993.1:p.Glu21Ter", "hgvsWellDefined": "XP_011521993.1:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547127" }, { "coordinates": [ { "allele": "T", "end": 574, "endIntronDirection": "+", "endIntronOffset": 2951, "referenceAllele": "G", "start": 574, "startIntronDirection": "+", "startIntronOffset": 2950 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_011523692.2:c.-381+2951G>T" ], "proteinEffect": { "hgvs": "XP_011521994.1:n.-381+2951G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS547128" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024254.1:c.-217G>T" ], "proteinEffect": { "hgvs": "XP_016879743.1:n.-217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574853" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024255.1:c.-296G>T" ], "proteinEffect": { "hgvs": "XP_016879744.1:n.-296G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574854" }, { "coordinates": [ { "allele": "T", "end": 574, "endIntronDirection": "+", "endIntronOffset": 2951, "referenceAllele": "G", "start": 574, "startIntronDirection": "+", "startIntronOffset": 2950 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024256.1:c.-381+2951G>T" ], "proteinEffect": { "hgvs": "XP_016879745.1:n.-381+2951G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574855" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024257.1:c.-217G>T" ], "proteinEffect": { "hgvs": "XP_016879746.1:n.-217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574856" }, { "coordinates": [ { "allele": "T", "end": 574, "endIntronDirection": "+", "endIntronOffset": 2951, "referenceAllele": "G", "start": 574, "startIntronDirection": "+", "startIntronOffset": 2950 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024258.1:c.-296+2951G>T" ], "proteinEffect": { "hgvs": "XP_016879747.1:n.-296+2951G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574857" }, { "coordinates": [ { "allele": "A", "end": 667, "endIntronDirection": "-", "endIntronOffset": 1181, "referenceAllele": "C", "start": 667, "startIntronDirection": "-", "startIntronOffset": 1182 } ], "hgvs": [ "XR_001752758.1:n.668-1182C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599422" }, { "coordinates": [ { "allele": "A", "end": 539, "endIntronDirection": "-", "endIntronOffset": 1181, "referenceAllele": "C", "start": 539, "startIntronDirection": "-", "startIntronOffset": 1182 } ], "hgvs": [ "XR_001752759.1:n.540-1182C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599423" }, { "coordinates": [ { "allele": "A", "end": 667, "endIntronDirection": "-", "endIntronOffset": 1309, "referenceAllele": "C", "start": 667, "startIntronDirection": "-", "startIntronOffset": 1310 } ], "hgvs": [ "XR_001752760.1:n.668-1310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599424" }, { "coordinates": [ { "allele": "A", "end": 452, "endIntronDirection": "-", "endIntronOffset": 1181, "referenceAllele": "C", "start": 452, "startIntronDirection": "-", "startIntronOffset": 1182 } ], "hgvs": [ "XR_001752761.2:n.453-1182C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599425" }, { "coordinates": [ { "allele": "A", "end": 354, "endIntronDirection": "-", "endIntronOffset": 1181, "referenceAllele": "C", "start": 354, "startIntronDirection": "-", "startIntronOffset": 1182 } ], "hgvs": [ "XR_002958115.1:n.355-1182C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604242" }, { "@id": "http://reg.genome.network/allele/PA2828522888", "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374492.1:c.61G>T" ], "proteinEffect": { "hgvs": "NP_001361421.1:p.Glu21Ter", "hgvsWellDefined": "NP_001361421.1:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693298" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374493.1:c.-296G>T" ], "proteinEffect": { "hgvs": "NP_001361422.1:n.-296G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693299" }, { "coordinates": [ { "allele": "T", "end": 282, "endIntronDirection": "+", "endIntronOffset": 2951, "referenceAllele": "G", "start": 282, "startIntronDirection": "+", "startIntronOffset": 2950 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374494.1:c.-381+2951G>T" ], "proteinEffect": { "hgvs": "NP_001361423.1:n.-381+2951G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693300" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374495.1:c.-217G>T" ], "proteinEffect": { "hgvs": "NP_001361424.1:n.-217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693301" }, { "coordinates": [ { "allele": "T", "end": 282, "endIntronDirection": "+", "endIntronOffset": 2951, "referenceAllele": "G", "start": 282, "startIntronDirection": "+", "startIntronOffset": 2950 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374496.1:c.-296+2951G>T" ], "proteinEffect": { "hgvs": "NP_001361425.1:n.-296+2951G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693302" }, { "@id": "http://reg.genome.network/allele/PA2499269275", "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_004937.3:c.61G>T" ], "proteinEffect": { "hgvs": "NP_004928.2:p.Glu21Ter", "hgvsWellDefined": "NP_004928.2:p.Glu21_Asn367delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696276", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000046640.9:c.61G>T" }, "RefSeq": { "hgvs": "NM_004937.3:c.61G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000046640.4:p.Glu21Ter" }, "RefSeq": { "hgvs": "NP_004928.2:p.Glu21Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825347680", "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001031681.3:c.61G>T" ], "proteinEffect": { "hgvs": "NP_001026851.2:p.Glu21Ter", "hgvsWellDefined": "NP_001026851.2:p.Glu21_Gly400delinsSerSerValSerLeuThrValProProValValLysLeuGluAsnGlySerSerThrAsnValSerLeuThrLeuArgProProLeuAsnAlaThrLeuValIleThrPheGluIleThrPheArgSerLysAsnIleThrIleLeuGluLeuProAspGluValValValProProGlyValThrAsnSerSerPheGlnValThrSerGlnAsnValGlyGlnLeuThrValTyrLeuHisGlyAsnHisSerAsnGlnThrGlyProArgIleArgPheLeuValIleArgSerSerAlaIleSerIleIleAsnGlnValIleGlyTrpIleTyrPheValAlaTrpSerIleSerPheTyrProGlnValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711482" } ], "type": "nucleotide" }