{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374424296", "communityStandardTitle": [ "NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1784255[alleleid]", "alleleId": 1784255, "preferredName": "NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726728", "RCV": [ "RCV002310412" ], "variationId": 1726728 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.111663764A>T?assembly=hg19", "id": "chr9:g.111663764A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108901484A>T?assembly=hg38", "id": "chr9:g.108901484A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2537902464", "rs": 2537902464 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 108901484, "referenceAllele": "A", "start": 108901483 } ], "hgvs": [ "NC_000009.12:g.108901484A>T", "CM000671.2:g.108901484A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 111663764, "referenceAllele": "A", "start": 111663763 } ], "hgvs": [ "NC_000009.11:g.111663764A>T", "CM000671.1:g.111663764A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 110703585, "referenceAllele": "A", "start": 110703584 } ], "hgvs": [ "NC_000009.10:g.110703585A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 37845, "referenceAllele": "T", "start": 37844 } ], "hgvs": [ "NG_008788.1:g.37845T>A", "LRG_251:g.37845T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "T", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.10:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Leu652Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Leu653_Asp1332delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.1955T>A" }, "RefSeq": { "hgvs": "NM_003640.5:c.1955T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Leu652Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Leu652Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "T", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000495759.6:c.*565T>A" ], "proteinEffect": { "hgvs": "ENSP00000433514.2:n.*565T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757811" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674535.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000502142.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000502142.1:p.Leu653_Ser1302delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProMetLeuSerPheLeuTyrHisGlnArgSerThrGluGluProSerGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774487" }, { "coordinates": [ { "allele": "A", "end": 3762, "referenceAllele": "T", "start": 3761 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674704.1:n.3762T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774631" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674836.1:n.2260T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774738" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674890.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000501870.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000501870.1:p.Leu653_Ser928delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysPheSerLeuIleIlePheLeuGlySerGlnArgIleSerSerIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774783" }, { "coordinates": [ { "allele": "A", "end": 2064, "referenceAllele": "T", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674938.1:c.1613T>A" ], "proteinEffect": { "hgvs": "ENSP00000502427.1:p.Leu538Ter", "hgvsWellDefined": "ENSP00000502427.1:p.Leu539_Asp1218delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774824" }, { "coordinates": [ { "allele": "A", "end": 2330, "referenceAllele": "T", "start": 2329 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674948.1:c.1613T>A" ], "proteinEffect": { "hgvs": "ENSP00000501602.1:p.Leu538Ter", "hgvsWellDefined": "ENSP00000501602.1:p.Leu539_Asp1218delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774832" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675052.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000502664.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000502664.1:p.Leu653_Glu1343delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAlaArgProThrProProLeuProProLeuLeuGlnProThrGlnArgGlyAspAspLysAspGluAspLeuTyrAspAspProLeuProPheAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774927" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675078.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000501549.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000501549.1:p.Leu653_Ser1299delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProThrTrpGlyGluGlyValLeuLeuCysCysProSerTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774947" }, { "coordinates": [ { "allele": "A", "end": 2074, "referenceAllele": "T", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675215.1:c.*1179T>A" ], "proteinEffect": { "hgvs": "ENSP00000502558.1:n.*1179T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775066" }, { "coordinates": [ { "allele": "A", "end": 3782, "referenceAllele": "T", "start": 3781 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675233.1:n.3782T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775081" }, { "coordinates": [ { "allele": "A", "end": 1955, "referenceAllele": "T", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675321.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000502751.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000502751.1:p.Leu653_His1184delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuGlyAspHisProArgIleAlaGluLysArgSerGlyArgSerThrAlaSerLysLysAlaValArgTrpArgThrTrpProSerTrpArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775156" }, { "coordinates": [ { "allele": "A", "end": 3751, "referenceAllele": "T", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675325.1:n.3751T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775159" }, { "coordinates": [ { "allele": "A", "end": 1986, "referenceAllele": "T", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675335.1:c.1986T>A" ], "proteinEffect": { "hgvs": "ENSP00000502182.1:n.1986T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775167" }, { "coordinates": [ { "allele": "A", "end": 3628, "referenceAllele": "T", "start": 3627 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675400.1:n.3628T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775225" }, { "coordinates": [ { "allele": "A", "end": 2258, "referenceAllele": "T", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675406.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000501893.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000501893.1:p.Leu653_Asp1332delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775231" }, { "coordinates": [ { "allele": "A", "end": 2048, "referenceAllele": "T", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675458.1:c.2048T>A" ], "proteinEffect": { "hgvs": "ENSP00000501754.1:n.2048T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775277" }, { "coordinates": [ { "allele": "A", "end": 3751, "referenceAllele": "T", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675507.1:n.3751T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775317" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675535.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000501667.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000501667.1:p.Leu653_Ser810delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgArgCysHisGluAspHisValProCysThrSerTyrGlnGlnCysLeuProValGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775340" }, { "coordinates": [ { "allele": "A", "end": 3751, "referenceAllele": "T", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675566.1:n.3751T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775366" }, { "coordinates": [ { "allele": "A", "end": 5003, "referenceAllele": "T", "start": 5002 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675602.1:n.5003T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775397" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675647.1:n.2260T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775439" }, { "coordinates": [ { "allele": "A", "end": 1955, "referenceAllele": "T", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675711.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000502485.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000502485.1:p.Leu653_Lys1091delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnArgTrpGlyValThrSerCysProArgTrpSerGluThrProGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775494" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675727.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000501722.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000501722.1:p.Leu653_Gly1295delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLysTrpThrValIlePheLeuSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775506" }, { "coordinates": [ { "allele": "A", "end": 3589, "referenceAllele": "T", "start": 3588 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675748.1:n.3589T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775526" }, { "coordinates": [ { "allele": "A", "end": 2269, "referenceAllele": "T", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675765.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000502640.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000502640.1:p.Leu653_Leu892delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyArgAspProLeuThrGluLysValLeuLysValAlaValThrAlaThrSerLeuLeuGlnGluMetLeuProLeuIleLeuMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775539" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675825.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000502632.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000502632.1:p.Leu653_Asp1346delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775593" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675877.1:n.2260T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775641" }, { "coordinates": [ { "allele": "A", "end": 3743, "referenceAllele": "T", "start": 3742 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675893.1:c.*3024T>A" ], "proteinEffect": { "hgvs": "ENSP00000502001.1:n.*3024T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775655" }, { "coordinates": [ { "allele": "A", "end": 5570, "referenceAllele": "T", "start": 5569 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675943.1:n.5570T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775696" }, { "coordinates": [ { "allele": "A", "end": 2169, "referenceAllele": "T", "start": 2168 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675979.1:c.*1198T>A" ], "proteinEffect": { "hgvs": "ENSP00000502208.1:n.*1198T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775725" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "T", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676044.1:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000502378.1:p.Leu652Ter", "hgvsWellDefined": "ENSP00000502378.1:p.Leu653_Lys812delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgLeuLysSerAsnGlyIlePheLeuSerAspAspLeuSerProGlnLeuPheAsnGluThrLeuSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775782" }, { "coordinates": [ { "allele": "A", "end": 3740, "referenceAllele": "T", "start": 3739 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676086.1:n.3740T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775820" }, { "coordinates": [ { "allele": "A", "end": 3783, "referenceAllele": "T", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676121.1:n.3783T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775850" }, { "coordinates": [ { "allele": "A", "end": 2161, "referenceAllele": "T", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676237.1:c.1856T>A" ], "proteinEffect": { "hgvs": "ENSP00000501828.1:p.Leu619Ter", "hgvsWellDefined": "ENSP00000501828.1:p.Leu620_Asp1313delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775950" }, { "coordinates": [ { "allele": "A", "end": 1945, "referenceAllele": "T", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676416.1:c.1613T>A" ], "proteinEffect": { "hgvs": "ENSP00000501660.1:p.Leu538Ter", "hgvsWellDefined": "ENSP00000501660.1:p.Leu539_Asp1232delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776100" }, { "coordinates": [ { "allele": "A", "end": 3751, "referenceAllele": "T", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676424.1:n.3751T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776106" }, { "coordinates": [ { "allele": "A", "end": 6424, "referenceAllele": "T", "start": 6423 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676429.1:n.6424T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776111" }, { "coordinates": [ { "allele": "A", "end": 2263, "referenceAllele": "T", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.9:c.1955T>A" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Leu652Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Leu653_Asp1332delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270343" }, { "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "T", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000537196.1:c.908T>A" ], "proteinEffect": { "hgvs": "ENSP00000439367.1:p.Leu303Ter", "hgvsWellDefined": "ENSP00000439367.1:p.Leu304_Asp983delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360651" }, { "@id": "http://reg.genome.network/allele/PA2580294182", "coordinates": [ { "allele": "A", "end": 2475, "referenceAllele": "T", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.3:c.1955T>A", "LRG_251t1:c.1955T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Leu652Ter", "hgvsWellDefined": "NP_003631.2:p.Leu653_Asp1332delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028869" }, { "coordinates": [ { "allele": "A", "end": 2045, "referenceAllele": "T", "start": 2044 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_005252285.2:c.1613T>A" ], "proteinEffect": { "hgvs": "XP_005252342.1:p.Leu538Ter", "hgvsWellDefined": "XP_005252342.1:p.Leu539_Asp1218delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059890" }, { "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "T", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.1:c.1955T>A" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Leu652Ter", "hgvsWellDefined": "XP_011517438.1:p.Leu653_Asp1346delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086309" }, { "coordinates": [ { "allele": "A", "end": 2045, "referenceAllele": "T", "start": 2044 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519137.1:c.1613T>A" ], "proteinEffect": { "hgvs": "XP_011517439.1:p.Leu538Ter", "hgvsWellDefined": "XP_011517439.1:p.Leu539_Asp1232delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086310" }, { "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "T", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.1:n.2271T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125988" }, { "@id": "http://reg.genome.network/allele/PA2826988530", "coordinates": [ { "allele": "A", "end": 2334, "referenceAllele": "T", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.1:c.1613T>A" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Leu538Ter", "hgvsWellDefined": "NP_001305289.1:p.Leu539_Asp1218delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512851" }, { "@id": "http://reg.genome.network/allele/PA2827346274", "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "T", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.1:c.908T>A" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Leu303Ter", "hgvsWellDefined": "NP_001317678.1:p.Leu304_Asp983delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517073" }, { "@id": "http://reg.genome.network/allele/PA2580294182", "coordinates": [ { "allele": "A", "end": 2479, "referenceAllele": "T", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.4:c.1955T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Leu652Ter", "hgvsWellDefined": "NP_003631.2:p.Leu653_Asp1332delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525117" }, { "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "T", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.2:c.1955T>A" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Leu652Ter", "hgvsWellDefined": "XP_011517438.1:p.Leu653_Asp1346delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545238" }, { "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "T", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.3:n.2282T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609323" }, { "@id": "http://reg.genome.network/allele/PA2580294182", "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "T", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.5:c.1955T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Leu652Ter", "hgvsWellDefined": "NP_003631.2:p.Leu653_Asp1332delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.1955T>A" }, "RefSeq": { "hgvs": "NM_003640.5:c.1955T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Leu652Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Leu652Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826988530", "coordinates": [ { "allele": "A", "end": 2126, "referenceAllele": "T", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.2:c.1613T>A" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Leu538Ter", "hgvsWellDefined": "NP_001305289.1:p.Leu539_Asp1218delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684503" }, { "@id": "http://reg.genome.network/allele/PA2827346274", "coordinates": [ { "allele": "A", "end": 2083, "referenceAllele": "T", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.2:c.908T>A" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Leu303Ter", "hgvsWellDefined": "NP_001317678.1:p.Leu304_Asp983delinsThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687100" } ], "type": "nucleotide" }