{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA395346224", "communityStandardTitle": [ "NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1784451[alleleid]", "alleleId": 1784451, "preferredName": "NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726924", "RCV": [ "RCV002308399" ], "variationId": 1726924 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.28499930G>T?assembly=hg19", "id": "chr16:g.28499930G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.28488609G>T?assembly=hg38", "id": "chr16:g.28488609G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1443772167", "rs": 1443772167 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 28488609, 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"ENSP00000455387.2:p.Cys38Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS760536" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568076.6:n.403C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760540" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568422.6:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000455549.2:p.Cys92Ter", "hgvsWellDefined": "ENSP00000455549.2:p.Cys92_Ser181delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, 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"referenceAllele": "C", "start": 2603 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569430.7:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000454229.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000454229.1:p.Cys92_Ser438delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760598" }, { "coordinates": [ { "allele": "A", "end": 499, "endIntronDirection": "+", "endIntronOffset": 681, "referenceAllele": "C", "start": 499, "startIntronDirection": "+", "startIntronOffset": 680 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.3:c.222+681C>A" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:n.222+681C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762500" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635861.1:c.114C>A" ], "proteinEffect": { "hgvs": "ENSP00000490034.1:p.Cys38Ter", "hgvsWellDefined": "ENSP00000490034.1:p.Cys38_Arg77delinsAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762691" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "C", "start": 373 } ], "hgvs": [ "ENST00000635887.1:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000490709.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000490709.1:p.Cys92_Ser438delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762712" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635958.1:n.387C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762766" }, { "coordinates": [ { "allele": "A", "end": 402, "endIntronDirection": "-", "endIntronOffset": 1067, "referenceAllele": "C", "start": 402, "startIntronDirection": "-", "startIntronOffset": 1068 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635973.1:c.126-1068C>A" ], "proteinEffect": { "hgvs": "ENSP00000490363.1:n.126-1068C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762777" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "C", "start": 430 } ], "hgvs": [ "ENST00000636017.1:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000490538.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000490538.1:p.Cys92_Arg131delinsAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762811" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "C", "start": 317 } ], "hgvs": [ "ENST00000636078.1:n.318C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762857" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636147.2:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000490105.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000490105.1:p.Cys92_Ser438delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762906", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.276C>A" }, "RefSeq": { "hgvs": "NM_001042432.2:c.276C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Cys92Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Cys92Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636172.1:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000490505.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000490505.1:p.Cys92_Arg131delinsAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762924" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636228.1:c.114C>A" ], "proteinEffect": { "hgvs": "ENSP00000489627.1:p.Cys38Ter", "hgvsWellDefined": "ENSP00000489627.1:p.Cys38_Ser336delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762968" }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "C", "start": 306 } ], "hgvs": [ "ENST00000636503.1:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000489824.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000489824.1:p.Cys92_Met363delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763165" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "hgvs": [ "ENST00000636766.1:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000489841.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000489841.1:p.Cys92_Ser438delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763363" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636839.1:n.428C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763420" }, { "coordinates": [ { "allele": "A", "end": 352, "referenceAllele": "C", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636853.1:n.352C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763430" }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "C", "start": 379 } ], "hgvs": [ "ENST00000636866.1:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000490880.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000490880.1:p.Cys92_Glu399delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763442" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636977.1:n.375C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763518" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637100.1:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000490394.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000490394.1:p.Cys92_Lys370delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerCysSerValThrArgLeuGluCysSerAspAlaValSerAlaHisCysSerLeuArgPheTrpValGlnAlaIleLeuLeuProGlnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763613" }, { "coordinates": [ { "allele": "A", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637107.1:c.429C>A" ], "proteinEffect": { "hgvs": "ENSP00000490248.1:p.Cys143Ter", "hgvsWellDefined": "ENSP00000490248.1:p.Cys143_Arg182delinsAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763620" }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "C", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637184.1:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000489952.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000489952.1:p.Cys92_Met363delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763674" }, { "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "C", 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"ENSP00000490758.1:p.Cys92_Met363delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763821" }, { "coordinates": [ { "allele": "A", "end": 461, "referenceAllele": "C", 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"http://reg.genome.network/refseq/RS381191" }, { "coordinates": [ { "allele": "A", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569430.5:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000454229.1:p.Cys92Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS381468" }, { "coordinates": [ { "allele": "A", "end": 545, "endIntronDirection": "+", "endIntronOffset": 681, "referenceAllele": "C", "start": 545, "startIntronDirection": "+", "startIntronOffset": 680 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.2:c.222+681C>A" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:n.222+681C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS406979" }, { "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000631023.2:c.276C>A" ], "proteinEffect": { "hgvs": "ENSP00000486616.1:p.Cys92Ter", "hgvsWellDefined": "ENSP00000486616.1:p.Cys92_Ser341delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407459" }, { "@id": "http://reg.genome.network/allele/PA2825052579", "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "C", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_000086.2:c.276C>A", "LRG_689t1:c.276C>A" ], "proteinEffect": { "hgvs": "NP_000077.1:p.Cys92Ter", "hgvsWellDefined": "NP_000077.1:p.Cys92_Ser438delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006150" }, { "@id": "http://reg.genome.network/allele/PA2580140554", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.1:c.276C>A", "LRG_689t2:c.276C>A" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Cys92Ter", "hgvsWellDefined": "NP_001035897.1:p.Cys92_Ser438delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009690" }, { "coordinates": [ { "allele": "A", "end": 581, "endIntronDirection": "+", "endIntronOffset": 681, "referenceAllele": "C", "start": 581, "startIntronDirection": "+", "startIntronOffset": 680 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.1:c.222+681C>A" ], "proteinEffect": { "hgvs": "NP_001273033.1:n.222+681C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022739" }, { "@id": "http://reg.genome.network/allele/PA2826704800", "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.1:c.56C>A" ], "proteinEffect": { "hgvs": "NP_001273034.1:p.Ala19Glu", "hgvsWellDefined": "NP_001273034.1:p.Ala19Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS022740" }, { "coordinates": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022745" }, { "@id": "http://reg.genome.network/allele/PA2580140554", "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.2:c.276C>A" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Cys92Ter", "hgvsWellDefined": "NP_001035897.1:p.Cys92_Ser438delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.276C>A" }, "RefSeq": { "hgvs": "NM_001042432.2:c.276C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Cys92Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Cys92Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 353, "endIntronDirection": "+", "endIntronOffset": 681, "referenceAllele": "C", "start": 353, "startIntronDirection": "+", "startIntronOffset": 680 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.2:c.222+681C>A" ], "proteinEffect": { "hgvs": "NP_001273033.1:n.222+681C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682139" }, { "@id": "http://reg.genome.network/allele/PA2826704800", "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.2:c.56C>A" ], "proteinEffect": { "hgvs": "NP_001273034.1:p.Ala19Glu", "hgvsWellDefined": "NP_001273034.1:p.Ala19Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS682140" }, { "coordinates": [ { "allele": "A", "end": 458, "endIntronDirection": "+", "endIntronOffset": 681, "referenceAllele": "C", "start": 458, "startIntronDirection": "+", "startIntronOffset": 680 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.2:c.60+681C>A" ], "proteinEffect": { "hgvs": "NP_001273038.1:n.60+681C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682141" }, { "@id": "http://reg.genome.network/allele/PA2826706717", "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.2:c.114C>A" ], "proteinEffect": { "hgvs": "NP_001273039.1:p.Cys38Ter", "hgvsWellDefined": "NP_001273039.1:p.Cys38_Ser384delinsAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682142" } ], "type": "nucleotide" }