{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367881566", "communityStandardTitle": [ "NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=833824[alleleid]", "alleleId": 833824, "preferredName": "NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/835472", "RCV": [ "RCV001036361", "RCV002489542" ], "variationId": 835472 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.73469098C>A?assembly=hg19", "id": "chr7:g.73469098C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.74054768C>A?assembly=hg38", "id": "chr7:g.74054768C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199621188", "rs": 199621188 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 74054768, "referenceAllele": "C", "start": 74054767 } ], "hgvs": [ "NC_000007.14:g.74054768C>A", "CM000669.2:g.74054768C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 73469098, "referenceAllele": "C", "start": 73469097 } ], "hgvs": [ "NC_000007.13:g.73469098C>A", "CM000669.1:g.73469098C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 73107034, "referenceAllele": "C", "start": 73107033 } ], "hgvs": [ "NC_000007.12:g.73107034C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 31672, "referenceAllele": "C", "start": 31671 } ], "hgvs": [ "NG_009261.1:g.31672C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001526" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000692049.1:c.1149C>A" ], "proteinEffect": { "hgvs": "ENSP00000510104.1:p.Tyr383Ter", "hgvsWellDefined": "ENSP00000510104.1:p.Tyr383_Lys786delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyAlaGlyValLeuGlyGlyLeuValProGlyAlaProGlyAlaValProGlyValProGlyThrGlyGlyValProGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaGlyAlaAspGluGlyValArgArgSerLeuSerProGluLeuArgGluGlyAspProSerSerSerGlnHisLeuProSerThrProSerSerProArgValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833518" }, { "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000252034.12:c.1149C>A" ], "proteinEffect": { "hgvs": "ENSP00000252034.7:p.Tyr383Ter", "hgvsWellDefined": "ENSP00000252034.7:p.Tyr383_Lys724delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741508", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252034.12:c.1149C>A" }, "RefSeq": { "hgvs": "NM_000501.4:c.1149C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252034.7:p.Tyr383Ter" }, "RefSeq": { "hgvs": "NP_000492.2:p.Tyr383Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000252034.11:c.1149C>A" ], "proteinEffect": { "hgvs": "ENSP00000252034.7:p.Tyr383Ter", "hgvsWellDefined": "ENSP00000252034.7:p.Tyr383_Lys724delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249782" }, { "coordinates": [ { "allele": "A", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000320399.10:c.1149C>A" ], "proteinEffect": { "hgvs": "ENSP00000313565.6:p.Tyr383Ter", "hgvsWellDefined": "ENSP00000313565.6:p.Tyr383_Lys757delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaGlyAlaAspGluGlyValArgArgSerLeuSerProGluLeuArgGluGlyAspProSerSerSerGlnHisLeuProSerThrProSerSerProArgValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257801" }, { "coordinates": [ { "allele": "A", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000320492.11:c.1041C>A" ], "proteinEffect": { "hgvs": "ENSP00000315607.7:p.Tyr347Ter", "hgvsWellDefined": "ENSP00000315607.7:p.Tyr347_Lys643delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyAlaGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257814" }, { "coordinates": [ { "allele": "A", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000357036.9:c.1164C>A" ], "proteinEffect": { "hgvs": "ENSP00000349540.5:p.Tyr388Ter", "hgvsWellDefined": "ENSP00000349540.5:p.Tyr388_Lys711delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263956" }, { "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000358929.8:c.1149C>A" ], "proteinEffect": { "hgvs": "ENSP00000351807.5:p.Tyr383Ter", "hgvsWellDefined": "ENSP00000351807.5:p.Tyr383_Lys786delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyAlaGlyValLeuGlyGlyLeuValProGlyAlaProGlyAlaValProGlyValProGlyThrGlyGlyValProGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaGlyAlaAspGluGlyValArgArgSerLeuSerProGluLeuArgGluGlyAspProSerSerSerGlnHisLeuProSerThrProSerSerProArgValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264625" }, { "coordinates": [ { "allele": "A", "end": 811, "referenceAllele": "C", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000380553.8:c.798C>A" ], "proteinEffect": { "hgvs": "ENSP00000369926.4:p.Tyr266Ter", "hgvsWellDefined": "ENSP00000369926.4:p.Tyr266_Lys570delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272974" }, { "coordinates": [ { "allele": "A", "end": 1196, "referenceAllele": "C", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000380562.8:c.1149C>A" ], "proteinEffect": { "hgvs": "ENSP00000369936.4:p.Tyr383Ter", "hgvsWellDefined": "ENSP00000369936.4:p.Tyr383_Lys730delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheAlaLeuLeuAsnLeuAlaGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272978" }, { "coordinates": [ { "allele": "A", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000380575.8:c.1119C>A" ], "proteinEffect": { "hgvs": "ENSP00000369949.4:p.Tyr373Ter", "hgvsWellDefined": "ENSP00000369949.4:p.Tyr373_Lys677delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272988" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "C", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000380576.9:c.1149C>A" ], "proteinEffect": { "hgvs": "ENSP00000369950.5:p.Tyr383Ter", "hgvsWellDefined": "ENSP00000369950.5:p.Tyr383_Lys705delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272989" }, { "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000380584.8:c.1107C>A" ], "proteinEffect": { "hgvs": "ENSP00000369958.4:p.Tyr369Ter", "hgvsWellDefined": "ENSP00000369958.4:p.Tyr369_Lys658delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaGlyAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272993" }, { "coordinates": [ { "allele": "A", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000414324.5:c.1134C>A" ], "proteinEffect": { "hgvs": "ENSP00000392575.1:p.Tyr378Ter", "hgvsWellDefined": "ENSP00000392575.1:p.Tyr378_Lys700delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283484" }, { "coordinates": [ { "allele": "A", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000429192.5:c.1164C>A" ], "proteinEffect": { "hgvs": "ENSP00000391129.1:p.Tyr388Ter", "hgvsWellDefined": "ENSP00000391129.1:p.Tyr388_Lys692delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290551" }, { "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000445912.5:c.1149C>A" ], "proteinEffect": { "hgvs": "ENSP00000389857.1:p.Tyr383Ter", "hgvsWellDefined": "ENSP00000389857.1:p.Tyr383_Lys706delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298497" }, { "coordinates": [ { "allele": "A", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000458204.5:c.1119C>A" ], "proteinEffect": { "hgvs": "ENSP00000403162.1:p.Tyr373Ter", "hgvsWellDefined": "ENSP00000403162.1:p.Tyr373_Lys714delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304296" }, { "coordinates": [ { "allele": "A", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000466878.5:n.468C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310128" }, { "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000492210.1:n.512C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329639" }, { "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "C", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "ENST00000621115.4:c.1017C>A" ], "proteinEffect": { "hgvs": "ENSP00000480955.1:p.Tyr339Ter", "hgvsWellDefined": "ENSP00000480955.1:p.Tyr339_Lys617delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyAlaGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405123" }, { "@id": "http://reg.genome.network/allele/PA2825202640", "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_000501.3:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_000492.2:p.Tyr383Ter", "hgvsWellDefined": "NP_000492.2:p.Tyr383_Lys724delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006555" }, { "@id": "http://reg.genome.network/allele/PA2825481578", "coordinates": [ { "allele": "A", "end": 1518, "referenceAllele": "C", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001081752.2:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_001075221.1:p.Tyr373Ter", "hgvsWellDefined": "NP_001075221.1:p.Tyr373_Lys677delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010350" }, { "@id": "http://reg.genome.network/allele/PA2825482023", "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001081753.2:c.1164C>A" ], "proteinEffect": { "hgvs": "NP_001075222.1:p.Tyr388Ter", "hgvsWellDefined": "NP_001075222.1:p.Tyr388_Lys692delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010351" }, { "@id": "http://reg.genome.network/allele/PA1139677297", "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001081754.2:c.1164C>A" ], "proteinEffect": { "hgvs": "NP_001075223.1:p.Tyr388Ter", "hgvsWellDefined": "NP_001075223.1:p.Tyr388_Lys711delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010352" }, { "@id": "http://reg.genome.network/allele/PA2825482780", "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001081755.2:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_001075224.1:p.Tyr383Ter", "hgvsWellDefined": "NP_001075224.1:p.Tyr383_Lys705delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010353" }, { "@id": "http://reg.genome.network/allele/PA2826615149", "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278912.1:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_001265841.1:p.Tyr383Ter", "hgvsWellDefined": "NP_001265841.1:p.Tyr383_Lys706delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021526" }, { "@id": "http://reg.genome.network/allele/PA2826615581", "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278913.1:c.1041C>A" ], "proteinEffect": { "hgvs": "NP_001265842.1:p.Tyr347Ter", "hgvsWellDefined": "NP_001265842.1:p.Tyr347_Lys643delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyAlaGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021527" }, { "@id": "http://reg.genome.network/allele/PA2826616000", "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278914.1:c.1134C>A" ], "proteinEffect": { "hgvs": "NP_001265843.1:p.Tyr378Ter", "hgvsWellDefined": "NP_001265843.1:p.Tyr378_Lys700delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021528" }, { "@id": "http://reg.genome.network/allele/PA2826616447", "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278915.1:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_001265844.1:p.Tyr383Ter", "hgvsWellDefined": "NP_001265844.1:p.Tyr383_Lys730delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheAlaLeuLeuAsnLeuAlaGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021529" }, { "@id": "http://reg.genome.network/allele/PA2826616899", "coordinates": [ { "allele": "A", "end": 1506, "referenceAllele": "C", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278916.1:c.1107C>A" ], "proteinEffect": { "hgvs": "NP_001265845.1:p.Tyr369Ter", "hgvsWellDefined": "NP_001265845.1:p.Tyr369_Lys658delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaGlyAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021530" }, { "@id": "http://reg.genome.network/allele/PA2826617325", "coordinates": [ { "allele": "A", "end": 1518, "referenceAllele": "C", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278917.1:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_001265846.1:p.Tyr373Ter", "hgvsWellDefined": "NP_001265846.1:p.Tyr373_Lys714delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021531" }, { "@id": "http://reg.genome.network/allele/PA2826617762", "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "C", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278918.1:c.1017C>A" ], "proteinEffect": { "hgvs": "NP_001265847.1:p.Tyr339Ter", "hgvsWellDefined": "NP_001265847.1:p.Tyr339_Lys617delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyAlaGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021532" }, { "@id": "http://reg.genome.network/allele/PA2826618380", "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278939.1:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_001265868.1:p.Tyr383Ter", "hgvsWellDefined": "NP_001265868.1:p.Tyr383_Lys786delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyAlaGlyValLeuGlyGlyLeuValProGlyAlaProGlyAlaValProGlyValProGlyThrGlyGlyValProGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaGlyAlaAspGluGlyValArgArgSerLeuSerProGluLeuArgGluGlyAspProSerSerSerGlnHisLeuProSerThrProSerSerProArgValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021543" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "C", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_005250187.1:c.1113C>A" ], "proteinEffect": { "hgvs": "XP_005250244.1:p.Tyr371Ter", "hgvsWellDefined": "XP_005250244.1:p.Tyr371_Lys712delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059097" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_005250188.1:c.1107C>A" ], "proteinEffect": { "hgvs": "XP_005250245.1:p.Tyr369Ter", "hgvsWellDefined": "XP_005250245.1:p.Tyr369_Lys710delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059098" }, { "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515868.1:c.1164C>A" ], "proteinEffect": { "hgvs": "XP_011514170.1:p.Tyr388Ter", "hgvsWellDefined": "XP_011514170.1:p.Tyr388_Lys729delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083076" }, { "coordinates": [ { "allele": "A", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515869.1:c.1134C>A" ], "proteinEffect": { "hgvs": "XP_011514171.1:p.Tyr378Ter", "hgvsWellDefined": "XP_011514171.1:p.Tyr378_Lys719delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083077" }, { "coordinates": [ { "allele": "A", "end": 1544, "referenceAllele": "C", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515870.1:c.1128C>A" ], "proteinEffect": { "hgvs": "XP_011514172.1:p.Tyr376Ter", "hgvsWellDefined": "XP_011514172.1:p.Tyr376_Lys717delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083078" }, { "coordinates": [ { "allele": "A", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515871.1:c.1122C>A" ], "proteinEffect": { "hgvs": "XP_011514173.1:p.Tyr374Ter", "hgvsWellDefined": "XP_011514173.1:p.Tyr374_Lys715delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083079" }, { "coordinates": [ { "allele": "A", "end": 1196, "endIntronDirection": "+", "endIntronOffset": 1459, "referenceAllele": "C", "start": 1196, "startIntronDirection": "+", "startIntronOffset": 1458 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515872.1:c.1111+1459C>A" ], "proteinEffect": { "hgvs": "XP_011514174.1:n.1111+1459C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083080" }, { "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515873.1:c.1164C>A" ], "proteinEffect": { "hgvs": "XP_011514175.1:p.Tyr388Ter", "hgvsWellDefined": "XP_011514175.1:p.Tyr388_Lys710delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083081" }, { "coordinates": [ { "allele": "A", "end": 1514, "referenceAllele": "C", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515874.1:c.1098C>A" ], "proteinEffect": { "hgvs": "XP_011514176.1:p.Tyr366Ter", "hgvsWellDefined": "XP_011514176.1:p.Tyr366_Lys707delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083082" }, { "coordinates": [ { "allele": "A", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515875.1:c.1083C>A" ], "proteinEffect": { "hgvs": "XP_011514177.1:p.Tyr361Ter", "hgvsWellDefined": "XP_011514177.1:p.Tyr361_Lys702delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083083" }, { "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515876.1:c.1164C>A" ], "proteinEffect": { "hgvs": "XP_011514178.1:p.Tyr388Ter", "hgvsWellDefined": "XP_011514178.1:p.Tyr388_Lys696delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083084" }, { "coordinates": [ { "allele": "A", "end": 1196, "endIntronDirection": "+", "endIntronOffset": 1459, "referenceAllele": "C", "start": 1196, "startIntronDirection": "+", "startIntronOffset": 1458 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515877.1:c.1111+1459C>A" ], "proteinEffect": { "hgvs": "XP_011514179.1:n.1111+1459C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083085" }, { "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_005250187.2:c.1113C>A" ], "proteinEffect": { "hgvs": "XP_005250244.1:p.Tyr371Ter", "hgvsWellDefined": "XP_005250244.1:p.Tyr371_Lys712delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533395" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_005250188.2:c.1107C>A" ], "proteinEffect": { "hgvs": "XP_005250245.1:p.Tyr369Ter", "hgvsWellDefined": "XP_005250245.1:p.Tyr369_Lys710delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533396" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515868.2:c.1164C>A" ], "proteinEffect": { "hgvs": "XP_011514170.1:p.Tyr388Ter", "hgvsWellDefined": "XP_011514170.1:p.Tyr388_Lys729delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543900" }, { "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515871.2:c.1122C>A" ], "proteinEffect": { "hgvs": "XP_011514173.1:p.Tyr374Ter", "hgvsWellDefined": "XP_011514173.1:p.Tyr374_Lys715delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543901" }, { "coordinates": [ { "allele": "A", "end": 1187, "endIntronDirection": "+", "endIntronOffset": 1459, "referenceAllele": "C", "start": 1187, "startIntronDirection": "+", "startIntronOffset": 1458 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515872.2:c.1111+1459C>A" ], "proteinEffect": { "hgvs": "XP_011514174.1:n.1111+1459C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS543902" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515873.2:c.1164C>A" ], "proteinEffect": { "hgvs": "XP_011514175.1:p.Tyr388Ter", "hgvsWellDefined": "XP_011514175.1:p.Tyr388_Lys710delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543903" }, { "coordinates": [ { "allele": "A", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515875.2:c.1083C>A" ], "proteinEffect": { "hgvs": "XP_011514177.1:p.Tyr361Ter", "hgvsWellDefined": "XP_011514177.1:p.Tyr361_Lys702delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543904" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515876.2:c.1164C>A" ], "proteinEffect": { "hgvs": "XP_011514178.1:p.Tyr388Ter", "hgvsWellDefined": "XP_011514178.1:p.Tyr388_Lys696delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543905" }, { "coordinates": [ { "allele": "A", "end": 1187, "endIntronDirection": "+", "endIntronOffset": 1459, "referenceAllele": "C", "start": 1187, "startIntronDirection": "+", "startIntronOffset": 1458 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_011515877.2:c.1111+1459C>A" ], "proteinEffect": { "hgvs": "XP_011514179.1:n.1111+1459C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS543906" }, { "coordinates": [ { "allele": "A", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_017011813.1:c.1077C>A" ], "proteinEffect": { "hgvs": "XP_016867302.1:p.Tyr359Ter", "hgvsWellDefined": "XP_016867302.1:p.Tyr359_Lys700delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565569" }, { "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "XM_017011814.2:c.1122C>A" ], "proteinEffect": { "hgvs": "XP_016867303.1:p.Tyr374Ter", "hgvsWellDefined": "XP_016867303.1:p.Tyr374_Lys696delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565570" }, { "@id": "http://reg.genome.network/allele/PA2825202640", "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_000501.4:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_000492.2:p.Tyr383Ter", "hgvsWellDefined": "NP_000492.2:p.Tyr383_Lys724delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662463", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252034.12:c.1149C>A" }, "RefSeq": { "hgvs": "NM_000501.4:c.1149C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252034.7:p.Tyr383Ter" }, "RefSeq": { "hgvs": "NP_000492.2:p.Tyr383Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825481578", "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001081752.3:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_001075221.1:p.Tyr373Ter", "hgvsWellDefined": "NP_001075221.1:p.Tyr373_Lys677delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676330" }, { "@id": "http://reg.genome.network/allele/PA2825482023", "coordinates": [ { "allele": "A", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001081753.3:c.1164C>A" ], "proteinEffect": { "hgvs": "NP_001075222.1:p.Tyr388Ter", "hgvsWellDefined": "NP_001075222.1:p.Tyr388_Lys692delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676331" }, { "@id": "http://reg.genome.network/allele/PA1139677297", "coordinates": [ { "allele": "A", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001081754.3:c.1164C>A" ], "proteinEffect": { "hgvs": "NP_001075223.1:p.Tyr388Ter", "hgvsWellDefined": "NP_001075223.1:p.Tyr388_Lys711delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676332" }, { "@id": "http://reg.genome.network/allele/PA2825482780", "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001081755.3:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_001075224.1:p.Tyr383Ter", "hgvsWellDefined": "NP_001075224.1:p.Tyr383_Lys705delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676333" }, { "@id": "http://reg.genome.network/allele/PA2826615149", "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278912.2:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_001265841.1:p.Tyr383Ter", "hgvsWellDefined": "NP_001265841.1:p.Tyr383_Lys706delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681579" }, { "@id": "http://reg.genome.network/allele/PA2826615581", "coordinates": [ { "allele": "A", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278913.2:c.1041C>A" ], "proteinEffect": { "hgvs": "NP_001265842.1:p.Tyr347Ter", "hgvsWellDefined": "NP_001265842.1:p.Tyr347_Lys643delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyAlaGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681580" }, { "@id": "http://reg.genome.network/allele/PA2826616000", "coordinates": [ { "allele": "A", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278914.2:c.1134C>A" ], "proteinEffect": { "hgvs": "NP_001265843.1:p.Tyr378Ter", "hgvsWellDefined": "NP_001265843.1:p.Tyr378_Lys700delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681581" }, { "@id": "http://reg.genome.network/allele/PA2826616447", "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278915.2:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_001265844.1:p.Tyr383Ter", "hgvsWellDefined": "NP_001265844.1:p.Tyr383_Lys730delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheAlaLeuLeuAsnLeuAlaGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681582" }, { "@id": "http://reg.genome.network/allele/PA2826616899", "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278916.2:c.1107C>A" ], "proteinEffect": { "hgvs": "NP_001265845.1:p.Tyr369Ter", "hgvsWellDefined": "NP_001265845.1:p.Tyr369_Lys658delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaGlyAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681583" }, { "@id": "http://reg.genome.network/allele/PA2826617325", "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278917.2:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_001265846.1:p.Tyr373Ter", "hgvsWellDefined": "NP_001265846.1:p.Tyr373_Lys714delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681584" }, { "@id": "http://reg.genome.network/allele/PA2826617762", "coordinates": [ { "allele": "A", "end": 1032, "referenceAllele": "C", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278918.2:c.1017C>A" ], "proteinEffect": { "hgvs": "NP_001265847.1:p.Tyr339Ter", "hgvsWellDefined": "NP_001265847.1:p.Tyr339_Lys617delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyAlaGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715657" }, { "@id": "http://reg.genome.network/allele/PA2826618380", "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN003327", "geneNCBI_id": 2006, "geneSymbol": "ELN", "hgvs": [ "NM_001278939.2:c.1149C>A" ], "proteinEffect": { "hgvs": "NP_001265868.1:p.Tyr383Ter", "hgvsWellDefined": "NP_001265868.1:p.Tyr383_Lys786delinsGlyAlaArgProGlyValGlyValGlyGlyIleProThrTyrGlyValGlyAlaGlyGlyPheProGlyPheGlyValGlyValGlyGlyIleProGlyValAlaGlyValProGlyValGlyGlyValProGlyValGlyGlyValProGlyValGlyIleSerProGluAlaGlnAlaAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyAlaGlyValLeuGlyGlyLeuValProGlyAlaProGlyAlaValProGlyValProGlyThrGlyGlyValProGlyValGlyThrProAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyLeuAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyValGlyValAlaProGlyIleGlyProGlyGlyValAlaAlaAlaAlaLysSerAlaAlaLysValAlaAlaLysAlaGlnLeuArgAlaAlaAlaGlyLeuGlyAlaGlyIleProGlyLeuGlyValGlyValGlyValProGlyLeuGlyValGlyAlaGlyValProGlyLeuGlyValGlyAlaGlyValProGlyPheGlyAlaGlyAlaAspGluGlyValArgArgSerLeuSerProGluLeuArgGluGlyAspProSerSerSerGlnHisLeuProSerThrProSerSerProArgValProGlyAlaLeuAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaValProGlyValLeuGlyGlyLeuGlyAlaLeuGlyGlyValGlyIleProGlyGlyValValGlyAlaGlyProAlaAlaAlaAlaAlaAlaAlaLysAlaAlaAlaLysAlaAlaGlnPheGlyLeuValGlyAlaAlaGlyLeuGlyGlyLeuGlyValGlyGlyLeuGlyValProGlyValGlyGlyLeuGlyGlyIleProProAlaAlaAlaAlaLysAlaAlaLysTyrGlyAlaAlaGlyLeuGlyGlyValLeuGlyGlyAlaGlyGlnPheProLeuGlyGlyValAlaAlaArgProGlyPheGlyLeuSerProIlePheProGlyGlyAlaCysLeuGlyLysAlaCysGlyArgLysArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715661" } ], "type": "nucleotide" }