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"XP_016879745.1:p.Trp115_Asn220delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574855" }, { "coordinates": [ { "allele": "A", "end": 1214, "referenceAllele": "G", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024257.1:c.344G>A" ], "proteinEffect": { "hgvs": "XP_016879746.1:p.Trp115Ter", "hgvsWellDefined": "XP_016879746.1:p.Trp115_Asn220delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574856" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024258.1:c.344G>A" ], "proteinEffect": { "hgvs": "XP_016879747.1:p.Trp115Ter", "hgvsWellDefined": "XP_016879747.1:p.Trp115_Asn220delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574857" }, { "@id": "http://reg.genome.network/allele/PA2828523122", "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374492.1:c.785G>A" ], "proteinEffect": { "hgvs": "NP_001361421.1:p.Trp262Ter", "hgvsWellDefined": "NP_001361421.1:p.Trp262_Gly400delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693298" }, { "@id": "http://reg.genome.network/allele/PA2828523357", "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374493.1:c.344G>A" ], "proteinEffect": { "hgvs": "NP_001361422.1:p.Trp115Ter", "hgvsWellDefined": "NP_001361422.1:p.Trp115_Asn220delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693299" }, { "@id": "http://reg.genome.network/allele/PA2828523594", "coordinates": [ { "allele": "A", "end": 1006, "referenceAllele": "G", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374494.1:c.344G>A" ], "proteinEffect": { "hgvs": "NP_001361423.1:p.Trp115Ter", "hgvsWellDefined": "NP_001361423.1:p.Trp115_Asn220delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693300" }, { "@id": "http://reg.genome.network/allele/PA2828523831", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374495.1:c.344G>A" ], "proteinEffect": { "hgvs": "NP_001361424.1:p.Trp115Ter", "hgvsWellDefined": "NP_001361424.1:p.Trp115_Asn220delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693301" }, { "@id": "http://reg.genome.network/allele/PA2828524011", "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "G", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374496.1:c.344G>A" ], "proteinEffect": { "hgvs": "NP_001361425.1:p.Trp115Ter", "hgvsWellDefined": "NP_001361425.1:p.Trp115_Asn220delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693302" }, { "@id": "http://reg.genome.network/allele/PA2741916324", "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_004937.3:c.785G>A" ], "proteinEffect": { "hgvs": "NP_004928.2:p.Trp262Ter", "hgvsWellDefined": "NP_004928.2:p.Trp262_Asn367delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696276", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000046640.9:c.785G>A" }, "RefSeq": { "hgvs": "NM_004937.3:c.785G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000046640.4:p.Trp262Ter" }, "RefSeq": { "hgvs": "NP_004928.2:p.Trp262Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825348045", "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001031681.3:c.785G>A" ], "proteinEffect": { "hgvs": "NP_001026851.2:p.Trp262Ter", "hgvsWellDefined": "NP_001026851.2:p.Trp262_Gly400delinsLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711482" } ], "type": "nucleotide" }