{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA395347505", "communityStandardTitle": [ "NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063622[alleleid]", "alleleId": 1063622, "preferredName": "NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072038", "RCV": [ "RCV001384656" ], "variationId": 1072038 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.28503038C>A?assembly=hg19", "id": "chr16:g.28503038C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.28491717C>A?assembly=hg38", "id": "chr16:g.28491717C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1228953213", "rs": 1228953213 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 28491717, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749265" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000395653.9:c.-41G>T" ], "proteinEffect": { "hgvs": "ENSP00000379014.5:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS753419" }, { "coordinates": [ { "allele": "T", "end": 95, "referenceAllele": "G", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000561505.2:c.-41G>T" ], "proteinEffect": { "hgvs": "ENSP00000457615.2:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS760324" }, { "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000561689.6:n.328G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760329" }, { "coordinates": [ { "allele": "T", "end": 43, "referenceAllele": "G", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565316.6:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000456117.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000456117.1:p.Glu15_Ser421delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" 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"referenceSequence": "http://reg.genome.network/refseq/RS760505" }, { "coordinates": [ { "allele": "T", "end": 165, "referenceAllele": "G", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000567495.6:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000456013.2:p.Glu15Ter", "hgvsWellDefined": "ENSP00000456013.2:p.Glu15_Pro155delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760525" }, { "coordinates": [ { "allele": "T", "end": 174, "referenceAllele": "G", "start": 173 } ], 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"ENSP00000454229.1:p.Glu15_Ser438delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760598" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.3:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000486178.1:p.Glu15_Ser82delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762500" }, { "coordinates": [ { "allele": "T", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635861.1:c.-41G>T" ], "proteinEffect": { "hgvs": "ENSP00000490034.1:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762691" }, { "coordinates": [ { "allele": "T", "end": 141, "referenceAllele": "G", "start": 140 } ], "hgvs": [ "ENST00000635887.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490709.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490709.1:p.Glu15_Ser438delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762712" }, { "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635958.1:n.154G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762766" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000635973.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490363.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490363.1:p.Glu15_Gln269del" }, "referenceSequence": "http://reg.genome.network/refseq/RS762777" }, { "coordinates": [ { "allele": "T", "end": 198, "referenceAllele": "G", "start": 197 } ], "hgvs": [ "ENST00000636017.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490538.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490538.1:p.Glu15_Arg131delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762811" }, { "coordinates": [ { "allele": "T", "end": 85, "referenceAllele": "G", "start": 84 } ], "hgvs": [ "ENST00000636078.1:n.85G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762857" }, { "coordinates": [ { "allele": "T", "end": 174, "referenceAllele": "G", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636147.2:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490105.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490105.1:p.Glu15_Ser438delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762906", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.43G>T" }, "RefSeq": { "hgvs": "NM_001042432.2:c.43G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Glu15Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Glu15Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 342, "referenceAllele": "G", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636172.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490505.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490505.1:p.Glu15_Arg131delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762924" }, { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636228.1:c.-41G>T" ], "proteinEffect": { "hgvs": "ENSP00000489627.1:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762968" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "G", "start": 73 } ], "hgvs": [ "ENST00000636503.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000489824.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000489824.1:p.Glu15_Met363delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763165" }, { "coordinates": [ { "allele": "T", "end": 174, "referenceAllele": "G", "start": 173 } ], "hgvs": [ "ENST00000636766.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000489841.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000489841.1:p.Glu15_Ser438delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763363" }, { "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "G", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636839.1:n.195G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763420" }, { "coordinates": [ { "allele": "T", "end": 119, "referenceAllele": "G", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636853.1:n.119G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763430" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "G", "start": 146 } ], "hgvs": [ "ENST00000636866.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490880.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490880.1:p.Glu15_Glu399delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763442" }, { "coordinates": [ { "allele": "T", "end": 142, "referenceAllele": "G", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000636977.1:n.142G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763518" }, { "coordinates": [ { "allele": "T", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637100.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490394.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490394.1:p.Glu15_Lys370delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerCysSerValThrArgLeuGluCysSerAspAlaValSerAlaHisCysSerLeuArgPheTrpValGlnAlaIleLeuLeuProGlnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763613" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637107.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490248.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490248.1:p.Glu15_Arg182delinsGlyGluTyrSerArgProProSerTrpAsnAspHisLeuTrpLeuAlaAlaHisLeuArgGlyMetArgAlaAspSerAlaProGlyGlyHisAlaArgSerGlyArgAlaProGluSerArgTrpGlySerCysProLeuLeuAlaLeuProGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763620" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "G", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637184.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000489952.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000489952.1:p.Glu15_Met363delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763674" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "G", "start": 146 } ], "hgvs": [ "ENST00000637299.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000489823.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000489823.1:p.Glu15_Pro47delinsGlyArgAlaLeuGluGluArgGlyGlyLeuLeuAlaAlaGlyProLeuGlnGlnLeuLeuLeuCysGlyAspAlaGluCysArgProArgHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763764" }, { "coordinates": [ { "allele": "T", "end": 162, "referenceAllele": "G", "start": 161 } ], "hgvs": [ "ENST00000637376.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490758.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490758.1:p.Glu15_Met363delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763821" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637578.1:c.-41G>T" ], "proteinEffect": { "hgvs": "ENSP00000490206.1:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763960" }, { "coordinates": [ { "allele": "T", "end": 43, "referenceAllele": "G", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637699.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490049.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490049.1:p.Glu15_Ser181delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764047" }, { "coordinates": [ { "allele": "T", "end": 174, "referenceAllele": "G", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637871.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490670.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490670.1:p.Glu15_Arg131delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaProProGlySerArgGlnTrpAspLeuCysCysTrpLysLeuArgProGlyCysLeuPheSerPheCysGlyAspGlnProValTrpCysGlyLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764171" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "G", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000637985.1:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000490932.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000490932.1:p.Glu15_His52delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuGluSerSerGlyThrIleSerAlaHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764258" }, { 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"ENSP00000329171.9:p.Glu15_Ser414delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259728" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000355477.9:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000347660.6:p.Glu15Ter", "hgvsWellDefined": "ENSP00000347660.6:p.Glu15_Ser181delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263442" }, { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS264242" }, { "coordinates": [ { "allele": "T", "end": 137, "referenceAllele": "G", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000357857.13:c.-41G>T" ], "proteinEffect": { "hgvs": "ENSP00000350523.9:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS264252" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000359984.11:c.-120G>T" ], "proteinEffect": { "hgvs": "ENSP00000353073.8:n.-120G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS264975" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS264989" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000395653.8:c.-99G>T" ], "proteinEffect": { "hgvs": "ENSP00000379014.4:n.-99G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS276815" }, { "coordinates": [ { "allele": "T", "end": 149, "referenceAllele": "G", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000561505.1:c.-99G>T" ], "proteinEffect": { "hgvs": "ENSP00000457615.1:n.-99G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS376165" }, { "coordinates": [ { "allele": "T", "end": 43, "referenceAllele": "G", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000561689.5:n.43G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376280" }, { "coordinates": [ { "allele": "T", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000563874.5:n.1397G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS377705" }, { "coordinates": [ { "allele": "T", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000564574.5:n.170G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS378178" }, { "coordinates": [ { "allele": "T", "end": 110, "referenceAllele": "G", "start": 109 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565047.1:n.110G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS378507" }, { "coordinates": [ { "allele": "T", "end": 43, "referenceAllele": "G", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565140.5:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000455342.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000455342.1:p.Glu15_Ser181delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysAlaIleSerCysCysSerHisLeuLeuArgProArgThrLeuGluGlyLysLysLysGlnArgAlaGlnProGlySerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378561" }, { "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565236.1:n.326G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS378622" }, { "coordinates": [ { "allele": "T", "end": 43, "referenceAllele": "G", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000565316.5:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000456117.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000456117.1:p.Glu15_Ser421delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysValArgMetMetAlaGlyPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" 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"T", "end": 142, "referenceAllele": "G", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568497.5:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000456414.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000456414.1:p.Glu15_Ser82delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380825" }, { "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "G", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000568558.5:c.-41G>T" ], "proteinEffect": { "hgvs": "ENSP00000455603.1:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS380866" }, { "coordinates": [ { "allele": "T", "end": 43, 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"ENSP00000454680.1:p.Glu15_Met253delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381191" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS381468" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.2:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000486178.1:p.Glu15_Ser82delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisLeuPheLeuValAlaHisIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406979" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000631023.2:c.43G>T" ], "proteinEffect": { "hgvs": "ENSP00000486616.1:p.Glu15Ter", "hgvsWellDefined": "ENSP00000486616.1:p.Glu15_Ser341delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407459" }, { "@id": "http://reg.genome.network/allele/PA2825052409", "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_000086.2:c.43G>T", "LRG_689t1:c.43G>T" ], "proteinEffect": { "hgvs": "NP_000077.1:p.Glu15Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006150" }, { "@id": "http://reg.genome.network/allele/PA2825401615", "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.1:c.43G>T", "LRG_689t2:c.43G>T" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Glu15Ter", "hgvsWellDefined": "NP_001035897.1:p.Glu15_Ser438delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009690" }, { "@id": "http://reg.genome.network/allele/PA2499245578", "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.1:c.43G>T" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Glu15Ter", "hgvsWellDefined": "NP_001273033.1:p.Glu15_Ser414delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022739" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.1:c.-99G>T" ], "proteinEffect": { "hgvs": "NP_001273034.1:n.-99G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022740" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.1:c.-41G>T" ], "proteinEffect": { "hgvs": "NP_001273038.1:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022744" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.1:c.-41G>T" ], "proteinEffect": { "hgvs": "NP_001273039.1:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022745" }, { "@id": "http://reg.genome.network/allele/PA2825401615", "coordinates": [ { "allele": "T", "end": 174, "referenceAllele": "G", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.2:c.43G>T" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Glu15Ter", "hgvsWellDefined": "NP_001035897.1:p.Glu15_Ser438delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisValAspProGlyProThrProIleProHisAsnSerSerSerArgPheAspCysAsnSerValSerThrAlaAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.43G>T" }, "RefSeq": { "hgvs": "NM_001042432.2:c.43G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Glu15Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Glu15Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499245578", "coordinates": [ { "allele": "T", "end": 174, "referenceAllele": "G", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.2:c.43G>T" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Glu15Ter", "hgvsWellDefined": "NP_001273033.1:p.Glu15_Ser414delinsGlyGluGluThrValProGluProArgLeuProLeuLeuAspHisGlnGlyAlaHisTrpLysAsnAlaValGlyPheTrpLeuLeuGlyLeuCysAsnAsnPheSerTyrValValMetLeuSerAlaAlaHisAspIleLeuSerHisLysArgThrSerGlyAsnGlnSerHisAlaValLeuLeuAlaAspIleLeuProThrLeuValIleLysLeuLeuAlaProLeuGlyLeuHisLeuLeuProTyrSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682139" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.2:c.-99G>T" ], "proteinEffect": { "hgvs": "NP_001273034.1:n.-99G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS682140" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.2:c.-41G>T" ], "proteinEffect": { "hgvs": "NP_001273038.1:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS682141" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.2:c.-41G>T" ], "proteinEffect": { "hgvs": "NP_001273039.1:n.-41G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS682142" } ], "type": "nucleotide" }