{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA369952923", "communityStandardTitle": [ "NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1428664[alleleid]", "alleleId": 1428664, "preferredName": "NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453381", "RCV": [ "RCV001994795" ], "variationId": 1453381 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.1719346C>A?assembly=hg19", "id": "chr8:g.1719346C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.1771180C>A?assembly=hg38", "id": "chr8:g.1771180C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/192196274", "rs": 192196274 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-1771180-C-A?dataset=gnomad_r4", "id": "8-1771180-C-A", "variant": "8:1771180 C / A" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 1771180, "referenceAllele": "C", "start": 1771179 } ], "hgvs": [ "NC_000008.11:g.1771180C>A", "CM000670.2:g.1771180C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 1719346, "referenceAllele": "C", "start": 1719345 } ], "hgvs": [ "NC_000008.10:g.1719346C>A", "CM000670.1:g.1719346C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 1706753, "referenceAllele": "C", "start": 1706752 } ], "hgvs": [ "NC_000008.9:g.1706753C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 20403, "referenceAllele": "C", "start": 20402 } ], "hgvs": [ "NG_008656.2:g.20403C>A", "LRG_691:g.20403C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001149" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000331222.6:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000328182.4:p.Cys42Ter", "hgvsWellDefined": "ENSP00000328182.4:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747132", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331222.6:c.126C>A" }, "RefSeq": { "hgvs": "NM_018941.4:c.126C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328182.4:p.Cys42Ter" }, "RefSeq": { "hgvs": "NP_061764.2:p.Cys42Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "C", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000519254.2:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000490016.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000490016.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758642" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000520991.3:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000487905.2:p.Cys42Ter", "hgvsWellDefined": "ENSP00000487905.2:p.Cys42_Gly216delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgArgAlaGlyProSerLeuCysPheGlySerSerThrSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758710" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000524258.2:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000488898.2:p.Cys42Ter", "hgvsWellDefined": "ENSP00000488898.2:p.Cys42_Val136del" }, "referenceSequence": "http://reg.genome.network/refseq/RS758843" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000635751.1:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000489694.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000489694.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762614" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "C", "start": 78 } ], "hgvs": [ "ENST00000635773.1:c.79C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762632" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "C", "start": 302 } ], "hgvs": [ "ENST00000635855.1:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000489726.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000489726.1:p.Cys42_Lys212delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluLeuLeuProLeuThrGluLeuArgGluAlaSerGlyAlaAlaAlaTrpThrSerGluSerProCysLeuProLeuLeuGlnLysMetLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762685" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "C", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000635970.1:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000490439.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000490439.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762775" }, { "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000636934.1:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000490218.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000490218.1:p.Cys42_Glu216delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluSerTrpValIleGlyThrGlnGlyAlaGluAsnAlaLeuAlaSerAspSerArgSerValGlnIleGlnSerPheSerHisProGlnGluLeuProProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763487" }, { "coordinates": [ { "allele": "A", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000637083.1:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000490235.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000490235.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763598" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000637156.1:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000490458.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000490458.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763651" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000637594.1:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000489999.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000489999.1:p.Cys42Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS763972" }, { "coordinates": [ { "allele": "A", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000331222.4:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000328182.4:p.Cys42Ter", "hgvsWellDefined": "ENSP00000328182.4:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259362" }, { "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000520991.2:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000487905.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000487905.1:p.Cys42Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS347916" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "ENST00000524258.1:c.126C>A" ], "proteinEffect": { "hgvs": "ENSP00000488898.1:p.Cys42Ter", "hgvsWellDefined": "ENSP00000488898.1:p.Cys42_Ala80del" }, "referenceSequence": "http://reg.genome.network/refseq/RS350461" }, { "@id": "http://reg.genome.network/allele/PA2573271360", "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "NM_018941.3:c.126C>A", "LRG_691t1:c.126C>A" ], "proteinEffect": { "hgvs": "NP_061764.2:p.Cys42Ter", "hgvsWellDefined": "NP_061764.2:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035953" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266021.3:c.126C>A" ], "proteinEffect": { "hgvs": "XP_005266078.1:p.Cys42Ter", "hgvsWellDefined": "XP_005266078.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064891" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266022.1:c.126C>A" ], "proteinEffect": { "hgvs": "XP_005266079.1:p.Cys42Ter", "hgvsWellDefined": "XP_005266079.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064892" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266023.1:c.126C>A" ], "proteinEffect": { "hgvs": "XP_005266080.1:p.Cys42Ter", "hgvsWellDefined": "XP_005266080.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064893" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534745.1:c.126C>A" ], "proteinEffect": { "hgvs": "XP_011533047.1:p.Cys42Ter", "hgvsWellDefined": "XP_011533047.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101757" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.1:c.126C>A" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Cys42Ter", "hgvsWellDefined": "XP_011533048.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101758" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.1:c.126C>A" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Cys42Ter", "hgvsWellDefined": "XP_011533049.1:p.Cys42_Val263delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101759" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_005266021.4:c.126C>A" ], "proteinEffect": { "hgvs": "XP_005266078.1:p.Cys42Ter", "hgvsWellDefined": "XP_005266078.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536158" }, { "coordinates": [ { "allele": "A", "end": 273, "referenceAllele": "C", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534746.2:c.126C>A" ], "proteinEffect": { "hgvs": "XP_011533048.1:p.Cys42Ter", "hgvsWellDefined": "XP_011533048.1:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551739" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "XM_011534747.2:c.126C>A" ], "proteinEffect": { "hgvs": "XP_011533049.1:p.Cys42Ter", "hgvsWellDefined": "XP_011533049.1:p.Cys42_Val263delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551740" }, { "@id": "http://reg.genome.network/allele/PA2573271360", "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN002079", "geneNCBI_id": 2055, "geneSymbol": "CLN8", "hgvs": [ "NM_018941.4:c.126C>A" ], "proteinEffect": { "hgvs": "NP_061764.2:p.Cys42Ter", "hgvsWellDefined": "NP_061764.2:p.Cys42_Pro286delinsHisGlnLeuSerSerSerLeuAsnAlaThrTyrArgSerLeuValAlaArgGluLysValPheTrpAspLeuAlaAlaThrArgAlaValPheGlyValGlnSerThrAlaAlaGlyLeuTrpAlaLeuLeuGlyAspProValLeuHisAlaAspLysAlaArgGlyGlnGlnAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698107", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331222.6:c.126C>A" }, "RefSeq": { "hgvs": "NM_018941.4:c.126C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000328182.4:p.Cys42Ter" }, "RefSeq": { "hgvs": "NP_061764.2:p.Cys42Ter" } } } } ], "type": "nucleotide" }