{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7981045", "communityStandardTitle": [ "NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1925072[alleleid]", "alleleId": 1925072, "preferredName": "NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2201536", "RCV": [ "RCV002644413", "RCV003465993" ], "variationId": 2201536 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-28500707-C-T", "id": "16-28500707-C-T", "variant": "16:28500707 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.28500707C>T?assembly=hg19", "id": "chr16:g.28500707C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.28489386C>T?assembly=hg38", "id": "chr16:g.28489386C>T" } ], "dbSNP": [ { "@id": 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], "referenceSequence": "http://reg.genome.network/refseq/RS760505" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000567495.6:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000456013.2:p.Trp42Ter", "hgvsWellDefined": "ENSP00000456013.2:p.Trp42_Pro155delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760525" }, { "coordinates": [ { "allele": "A", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, 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"ENSP00000455549.2:p.Trp42_Ser181delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760549" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568443.2:c.279G>A" ], "proteinEffect": { "hgvs": "ENSP00000454899.2:p.Trp93Ter", "hgvsWellDefined": "ENSP00000454899.2:p.Trp93Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS760551" }, { "coordinates": [ { "allele": "A", "end": 229, 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"http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568558.6:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000455603.2:p.Trp42Ter", "hgvsWellDefined": "ENSP00000455603.2:p.Trp42_Thr177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS760564" }, { "coordinates": [ { "allele": "A", "end": 2454, "referenceAllele": "G", "start": 2453 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569430.7:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000454229.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000454229.1:p.Trp42_Ser438delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760598" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.3:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000486178.1:p.Trp42_Ser82delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762500" }, { "coordinates": [ { "allele": "A", "end": 165, "referenceAllele": "G", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635861.1:c.-37G>A" ], "proteinEffect": { "hgvs": "ENSP00000490034.1:n.-37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762691" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "G", "start": 223 } ], "hgvs": [ "ENST00000635887.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490709.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490709.1:p.Trp42_Ser438delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762712" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635958.1:n.237G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762766" }, { "coordinates": [ { "allele": "A", "end": 402, "endIntronDirection": "-", "endIntronOffset": 1844, "referenceAllele": "G", "start": 402, "startIntronDirection": "-", "startIntronOffset": 1845 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635973.1:c.126-1845G>A" ], "proteinEffect": { "hgvs": "ENSP00000490363.1:n.126-1845G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762777" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "hgvs": [ "ENST00000636017.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490538.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490538.1:p.Trp42_Arg131delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762811" }, { "coordinates": [ { "allele": "A", "end": 168, "referenceAllele": "G", "start": 167 } ], "hgvs": [ "ENST00000636078.1:n.168G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762857" }, { "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636147.2:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490105.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490105.1:p.Trp42_Ser438delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762906", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.126G>A" }, "RefSeq": { "hgvs": "NM_001042432.2:c.126G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Trp42Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Trp42Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636172.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490505.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490505.1:p.Trp42_Arg131delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762924" }, { "coordinates": [ { "allele": "A", "end": 144, "referenceAllele": "G", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636228.1:c.-37G>A" ], "proteinEffect": { "hgvs": "ENSP00000489627.1:n.-37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762968" }, { "coordinates": [ { "allele": "A", "end": 157, "referenceAllele": "G", "start": 156 } ], "hgvs": [ "ENST00000636503.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000489824.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000489824.1:p.Trp42_Met363delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763165" }, { "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "hgvs": [ "ENST00000636766.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000489841.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000489841.1:p.Trp42_Ser438delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763363" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "G", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636839.1:n.278G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763420" }, { "coordinates": [ { "allele": "A", "end": 202, "referenceAllele": "G", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636853.1:n.202G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763430" }, { "coordinates": [ { "allele": "A", "end": 230, "referenceAllele": "G", "start": 229 } ], "hgvs": [ "ENST00000636866.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490880.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490880.1:p.Trp42_Glu399delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763442" }, { "coordinates": [ { "allele": "A", "end": 225, "referenceAllele": "G", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636977.1:n.225G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763518" }, { "coordinates": [ { "allele": "A", "end": 253, "referenceAllele": "G", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637100.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490394.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490394.1:p.Trp42_Lys370delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerCysSerValThrArgLeuGluCysSerAspAlaValSerAlaHisCysSerLeuArgPheTrpValGlnAlaIleLeuLeuProGlnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763613" }, { "coordinates": [ { "allele": "A", "end": 638, "referenceAllele": "G", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637107.1:c.279G>A" ], "proteinEffect": { "hgvs": "ENSP00000490248.1:p.Trp93Ter", "hgvsWellDefined": "ENSP00000490248.1:p.Trp93_Arg182delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763620" }, { "coordinates": [ { "allele": "A", "end": 230, "referenceAllele": "G", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637184.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000489952.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000489952.1:p.Trp42_Met363delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763674" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "hgvs": [ "ENST00000637299.1:c.79G>A" ], "proteinEffect": { "hgvs": "ENSP00000489823.1:p.Ala27Thr", "hgvsWellDefined": "ENSP00000489823.1:p.Ala27Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763764" }, { "coordinates": [ { "allele": "A", "end": 245, "referenceAllele": "G", "start": 244 } ], "hgvs": [ "ENST00000637376.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490758.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490758.1:p.Trp42_Met363delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763821" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "G", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637578.1:c.-37G>A" ], "proteinEffect": { "hgvs": "ENSP00000490206.1:n.-37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763960" }, { "coordinates": [ { "allele": "A", "end": 126, "referenceAllele": "G", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637699.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490049.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490049.1:p.Trp42_Ser181delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764047" }, { "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637871.1:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000490670.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000490670.1:p.Trp42_Arg131delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764171" }, { "coordinates": [ { "allele": "A", "end": 255, "referenceAllele": "G", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637985.1:c.*65G>A" ], "proteinEffect": { "hgvs": "ENSP00000490932.1:n.*65G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS764258" }, { "coordinates": [ { "allele": "A", "end": 225, "referenceAllele": "G", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000333496.13:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000329171.9:p.Trp42Ter", "hgvsWellDefined": "ENSP00000329171.9:p.Trp42_Ser414delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259728" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000355477.9:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000347660.6:p.Trp42Ter", "hgvsWellDefined": "ENSP00000347660.6:p.Trp42_Ser181delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263442" }, { "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "G", "start": 349 } ], 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"ENSP00000350457.7:p.Trp42_Ser339delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValCysTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264242" }, { "coordinates": [ { "allele": "A", "end": 141, "referenceAllele": "G", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000357857.13:c.-37G>A" ], "proteinEffect": { "hgvs": "ENSP00000350523.9:n.-37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS264252" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000359984.11:c.-37G>A" ], "proteinEffect": { "hgvs": "ENSP00000353073.8:n.-37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS264975" }, { "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000360019.6:c.126G>A" ], "proteinEffect": { 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"ENSP00000353116.2:p.Trp42_Ser438delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264989" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "G", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000395653.8:c.-95G>A" ], "proteinEffect": { "hgvs": "ENSP00000379014.4:n.-95G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS276815" }, { "coordinates": [ { "allele": "A", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000561505.1:c.-95G>A" ], "proteinEffect": { "hgvs": "ENSP00000457615.1:n.-95G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS376165" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000561689.5:n.47G>A" ], 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"referenceSequence": "http://reg.genome.network/refseq/RS378507" }, { "coordinates": [ { "allele": "A", "end": 126, "referenceAllele": "G", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565140.5:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000455342.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000455342.1:p.Trp42_Ser181delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378561" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "G", "start": 509 } ], 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"http://reg.genome.network/refseq/RS379710" }, { "coordinates": [ { "allele": "A", "end": 199, "referenceAllele": "G", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000567495.5:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000456013.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000456013.1:p.Trp42_Ser181delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380150" }, { "coordinates": [ { "allele": "A", "end": 461, "referenceAllele": "G", "start": 460 } ], "gene": 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1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569030.5:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000454680.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000454680.1:p.Trp42_Met253delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381191" }, { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "G", "start": 945 } ], "gene": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS381468" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.2:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:p.Trp42Ter", "hgvsWellDefined": "ENSP00000486178.1:p.Trp42_Ser82delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406979" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000631023.2:c.126G>A" ], "proteinEffect": { "hgvs": "ENSP00000486616.1:p.Trp42Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS407459" }, { "@id": "http://reg.genome.network/allele/PA2825052480", "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_000086.2:c.126G>A", "LRG_689t1:c.126G>A" ], "proteinEffect": { "hgvs": "NP_000077.1:p.Trp42Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006150" }, { "@id": "http://reg.genome.network/allele/PA2825401643", "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.1:c.126G>A", "LRG_689t2:c.126G>A" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Trp42Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS009690" }, { "@id": "http://reg.genome.network/allele/PA2580192294", "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.1:c.126G>A" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Trp42Ter", "hgvsWellDefined": 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"proteinEffect": { "hgvs": "NP_001273039.1:n.-37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022745" }, { "@id": "http://reg.genome.network/allele/PA2825401643", "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.2:c.126G>A" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Trp42Ter", "hgvsWellDefined": "NP_001035897.1:p.Trp42_Ser438delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.126G>A" }, "RefSeq": { "hgvs": "NM_001042432.2:c.126G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Trp42Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Trp42Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580192294", "coordinates": [ { "allele": "A", "end": 257, "referenceAllele": "G", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.2:c.126G>A" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Trp42Ter", "hgvsWellDefined": "NP_001273033.1:p.Trp42_Ser414delinsLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682139" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.2:c.-95G>A" ], "proteinEffect": { "hgvs": "NP_001273034.1:n.-95G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682140" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.2:c.-37G>A" ], "proteinEffect": { "hgvs": "NP_001273038.1:n.-37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682141" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.2:c.-37G>A" ], "proteinEffect": { "hgvs": "NP_001273039.1:n.-37G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682142" } ], "type": "nucleotide" }