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"ENSP00000454229.1:p.Trp35_Ser438delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760598" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "G", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.3:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000486178.1:p.Trp35_Ser82delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762500" }, { "coordinates": [ { "allele": "A", "end": 164, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 164, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635861.1:c.-38+212G>A" ], "proteinEffect": { "hgvs": "ENSP00000490034.1:n.-38+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762691" }, { "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "G", "start": 202 } ], "hgvs": [ "ENST00000635887.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000490709.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000490709.1:p.Trp35_Ser438delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762712" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635958.1:n.216G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762766" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "G", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635973.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000490363.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000490363.1:p.Trp35_Gln269del" }, "referenceSequence": "http://reg.genome.network/refseq/RS762777" }, { "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "hgvs": [ "ENST00000636017.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000490538.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000490538.1:p.Trp35_Arg131delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762811" }, { "coordinates": [ { "allele": "A", "end": 147, "referenceAllele": "G", "start": 146 } ], "hgvs": [ "ENST00000636078.1:n.147G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762857" }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636147.2:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000490105.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000490105.1:p.Trp35_Ser438delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762906", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.105G>A" }, "RefSeq": { "hgvs": "NM_001042432.2:c.105G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Trp35Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Trp35Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636172.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000490505.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000490505.1:p.Trp35_Arg131delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762924" }, { "coordinates": [ { "allele": "A", "end": 143, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 143, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636228.1:c.-38+212G>A" ], "proteinEffect": { "hgvs": "ENSP00000489627.1:n.-38+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762968" }, { "coordinates": [ { "allele": "A", "end": 136, "referenceAllele": "G", "start": 135 } ], "hgvs": [ "ENST00000636503.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000489824.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000489824.1:p.Trp35_Met363delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763165" }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "G", "start": 235 } ], "hgvs": [ "ENST00000636766.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000489841.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000489841.1:p.Trp35_Ser438delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763363" }, { "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636839.1:n.257G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763420" }, { "coordinates": [ { "allele": "A", "end": 181, "referenceAllele": "G", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636853.1:n.181G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763430" }, { "coordinates": [ { "allele": "A", "end": 209, "referenceAllele": "G", "start": 208 } ], "hgvs": [ "ENST00000636866.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000490880.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000490880.1:p.Trp35_Glu399delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763442" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636977.1:n.204G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763518" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637100.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000490394.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000490394.1:p.Trp35_Lys370delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerCysSerValThrArgLeuGluCysSerAspAlaValSerAlaHisCysSerLeuArgPheTrpValGlnAlaIleLeuLeuProGlnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763613" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637107.1:c.258G>A" ], "proteinEffect": { "hgvs": "ENSP00000490248.1:p.Trp86Ter", "hgvsWellDefined": "ENSP00000490248.1:p.Trp86_Arg182delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763620" }, { "coordinates": [ { "allele": "A", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637184.1:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000489952.1:p.Trp35Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000566057.5:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000456693.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000456693.1:p.Trp35_Ser105delinsLysAsnAlaValGlyPheTrpLeuCysSerTrpArgThrSerSerProHisSerSerSerAsnCysTrpLeuLeuLeuAlaPheThrCysCysProThrAlaProGlyPheSerSerValGlyPheValLeuLeuGluAlaSerSerTrpLeuProPheLeuIleLeuTrpGlyProAlaCysValLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379156" }, { "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000566083.5:n.336G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS379178" }, { "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "G", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000566824.5:n.234G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS379710" }, { "coordinates": [ { "allele": "A", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000567495.5:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000456013.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000456013.1:p.Trp35_Ser181delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380150" }, { "coordinates": [ { 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"ENSP00000455387.1:p.Trp35_Ser341delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380460" }, { "coordinates": [ { "allele": "A", "end": 105, "referenceAllele": "G", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568076.5:n.105G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380536" }, { "coordinates": [ { "allele": "A", "end": 299, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 299, "startIntronDirection": "+", "startIntronOffset": 211 } ], "hgvs": [ "ENST00000568224.4:c.-38+212G>A" ], "proteinEffect": { "hgvs": "ENSP00000454253.1:n.-38+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380632" }, { "coordinates": [ { "allele": "A", "end": 143, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 143, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568422.5:c.-96+212G>A" ], "proteinEffect": { "hgvs": "ENSP00000455549.1:n.-96+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380772" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568443.1:c.258G>A" ], "proteinEffect": { "hgvs": "ENSP00000454899.1:p.Trp86Ter", "hgvsWellDefined": "ENSP00000454899.1:p.Trp86Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS380786" }, { "coordinates": [ { "allele": "A", "end": 105, "referenceAllele": "G", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568452.5:n.105G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380793" }, { "coordinates": [ { "allele": "A", "end": 60, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 60, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568472.5:n.60+212G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380808" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568497.5:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000456414.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000456414.1:p.Trp35_Ser82delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380825" }, { "coordinates": [ { "allele": "A", "end": 146, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 146, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568558.5:c.-38+212G>A" ], "proteinEffect": { "hgvs": "ENSP00000455603.1:n.-38+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380866" }, { "coordinates": [ { "allele": "A", "end": 105, "referenceAllele": "G", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569030.5:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000454680.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000454680.1:p.Trp35_Met253delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381191" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569430.5:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000454229.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000454229.1:p.Trp35_Ser438delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381468" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.2:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000486178.1:p.Trp35_Ser82delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406979" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000631023.2:c.105G>A" ], "proteinEffect": { "hgvs": "ENSP00000486616.1:p.Trp35Ter", "hgvsWellDefined": "ENSP00000486616.1:p.Trp35_Ser341delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407459" }, { "@id": "http://reg.genome.network/allele/PA263616", "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_000086.2:c.105G>A", "LRG_689t1:c.105G>A" ], "proteinEffect": { "hgvs": "NP_000077.1:p.Trp35Ter", "hgvsWellDefined": "NP_000077.1:p.Trp35_Ser438delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006150" }, { "@id": "http://reg.genome.network/allele/PA263617", "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "G", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.1:c.105G>A", "LRG_689t2:c.105G>A" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Trp35Ter", "hgvsWellDefined": "NP_001035897.1:p.Trp35_Ser438delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009690" }, { "@id": "http://reg.genome.network/allele/PA916014676", "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "G", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.1:c.105G>A" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Trp35Ter", "hgvsWellDefined": "NP_001273033.1:p.Trp35_Ser414delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022739" }, { "coordinates": [ { "allele": "A", "end": 369, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 369, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.1:c.-96+212G>A" ], "proteinEffect": { "hgvs": "NP_001273034.1:n.-96+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022740" }, { "coordinates": [ { "allele": "A", "end": 369, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 369, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.1:c.-38+212G>A" ], "proteinEffect": { "hgvs": "NP_001273038.1:n.-38+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022744" }, { "coordinates": [ { "allele": "A", "end": 369, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 369, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.1:c.-38+212G>A" ], "proteinEffect": { "hgvs": "NP_001273039.1:n.-38+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022745" }, { "@id": "http://reg.genome.network/allele/PA263617", "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.2:c.105G>A" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Trp35Ter", "hgvsWellDefined": "NP_001035897.1:p.Trp35_Ser438delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.105G>A" }, "RefSeq": { "hgvs": "NM_001042432.2:c.105G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Trp35Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Trp35Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916014676", "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.2:c.105G>A" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Trp35Ter", "hgvsWellDefined": "NP_001273033.1:p.Trp35_Ser414delinsLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682139" }, { "coordinates": [ { "allele": "A", "end": 361, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 361, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.2:c.-96+212G>A" ], "proteinEffect": { "hgvs": "NP_001273034.1:n.-96+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682140" }, { "coordinates": [ { "allele": "A", "end": 361, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 361, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.2:c.-38+212G>A" ], "proteinEffect": { "hgvs": "NP_001273038.1:n.-38+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682141" }, { "coordinates": [ { "allele": "A", "end": 361, "endIntronDirection": "+", "endIntronOffset": 212, "referenceAllele": "G", "start": 361, "startIntronDirection": "+", "startIntronOffset": 211 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.2:c.-38+212G>A" ], "proteinEffect": { "hgvs": "NP_001273039.1:n.-38+212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682142" } ], "type": "nucleotide" }