{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374418290", "communityStandardTitle": [ "NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1781491[alleleid]", "alleleId": 1781491, "preferredName": "NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1723964", "RCV": [ "RCV002306519" ], "variationId": 1723964 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.111655294A>T?assembly=hg19", "id": "chr9:g.111655294A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108893014A>T?assembly=hg38", "id": "chr9:g.108893014A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2537882308", "rs": 2537882308 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 108893014, "referenceAllele": "A", "start": 108893013 } ], "hgvs": [ "NC_000009.12:g.108893014A>T", "CM000671.2:g.108893014A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 111655294, "referenceAllele": "A", "start": 111655293 } ], "hgvs": [ "NC_000009.11:g.111655294A>T", "CM000671.1:g.111655294A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 110695115, "referenceAllele": "A", "start": 110695114 } ], "hgvs": [ "NC_000009.10:g.110695115A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 46315, "referenceAllele": "T", "start": 46314 } ], "hgvs": [ "NG_008788.1:g.46315T>A", "LRG_251:g.46315T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3246, "referenceAllele": "T", "start": 3245 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.10:c.2930T>A" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Leu977Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS774783" }, { "coordinates": [ { "allele": "A", "end": 3039, "referenceAllele": "T", "start": 3038 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674938.1:c.2588T>A" ], "proteinEffect": { "hgvs": "ENSP00000502427.1:p.Leu863Ter", "hgvsWellDefined": "ENSP00000502427.1:p.Leu863_Asp1218delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774824" }, { "coordinates": [ { "allele": "A", "end": 3305, "referenceAllele": "T", "start": 3304 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674948.1:c.2588T>A" ], "proteinEffect": { "hgvs": "ENSP00000501602.1:p.Leu863Ter", "hgvsWellDefined": "ENSP00000501602.1:p.Leu863_Asp1218delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774832" }, { "coordinates": [ { "allele": "A", "end": 3235, "referenceAllele": "T", "start": 3234 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675052.1:c.2930T>A" ], "proteinEffect": { "hgvs": "ENSP00000502664.1:p.Leu977Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774927" }, { "coordinates": [ { "allele": "A", "end": 3235, "referenceAllele": "T", "start": 3234 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675078.1:c.2930T>A" ], "proteinEffect": { "hgvs": "ENSP00000501549.1:p.Leu977Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774947" }, { "coordinates": [ { "allele": "A", "end": 3049, "referenceAllele": "T", "start": 3048 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675215.1:c.*2154T>A" ], "proteinEffect": { "hgvs": "ENSP00000502558.1:n.*2154T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775066" }, { "coordinates": [ { "allele": "A", "end": 4757, "referenceAllele": "T", "start": 4756 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675233.1:n.4757T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775081" }, { "coordinates": [ { "allele": "A", "end": 2930, "referenceAllele": "T", "start": 2929 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675321.1:c.2930T>A" ], "proteinEffect": { "hgvs": 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"ENSP00000501667.1:n.*557T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775340" }, { "coordinates": [ { "allele": "A", "end": 4788, "referenceAllele": "T", "start": 4787 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675566.1:n.4788T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775366" }, { "coordinates": [ { "allele": "A", "end": 5978, "referenceAllele": "T", "start": 5977 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675602.1:n.5978T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775397" }, { "coordinates": [ { "allele": "A", "end": 4094, "referenceAllele": "T", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675647.1:n.4094T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775439" }, { 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"ENSP00000501722.1:p.Leu977_Gly1295delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLysTrpThrValIlePheLeuSerGlyTer" 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"ENSP00000502632.1:p.Leu977Ter", "hgvsWellDefined": "ENSP00000502632.1:p.Leu977_Asp1346delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775593" }, { "coordinates": [ { "allele": "A", "end": 3235, "referenceAllele": "T", "start": 3234 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675877.1:n.3235T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775641" }, { "coordinates": [ { "allele": "A", "end": 4718, "referenceAllele": "T", "start": 4717 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675893.1:c.*3999T>A" ], "proteinEffect": { "hgvs": "ENSP00000502001.1:n.*3999T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775655" }, { "coordinates": [ { "allele": "A", "end": 6545, "referenceAllele": "T", "start": 6544 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675943.1:n.6545T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775696" }, { "coordinates": [ { "allele": "A", "end": 3144, "referenceAllele": "T", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675979.1:c.*2173T>A" ], "proteinEffect": { "hgvs": "ENSP00000502208.1:n.*2173T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775725" }, { "coordinates": [ { "allele": "A", "end": 3334, "referenceAllele": "T", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676044.1:c.*590T>A" ], "proteinEffect": { "hgvs": "ENSP00000502378.1:n.*590T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775782" }, { "coordinates": [ { "allele": "A", "end": 4715, "referenceAllele": "T", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676086.1:n.4715T>A" ], 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"ENSP00000501828.1:p.Leu944_Asp1313delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775950" }, { "coordinates": [ { "allele": "A", "end": 2920, "referenceAllele": "T", "start": 2919 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676416.1:c.2588T>A" ], "proteinEffect": { "hgvs": "ENSP00000501660.1:p.Leu863Ter", "hgvsWellDefined": "ENSP00000501660.1:p.Leu863_Asp1232delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776100" }, { "coordinates": [ { "allele": "A", "end": 4726, "referenceAllele": "T", "start": 4725 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676424.1:n.4726T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776106" }, { "coordinates": [ { "allele": "A", "end": 7399, "referenceAllele": "T", "start": 7398 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676429.1:n.7399T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776111" }, { "coordinates": [ { "allele": "A", "end": 3238, "referenceAllele": "T", "start": 3237 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.9:c.2930T>A" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Leu977Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Leu977_Asp1332delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270343" }, { "coordinates": [ { "allele": "A", "end": 70, "referenceAllele": "T", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000495759.5:c.70T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332396" }, { "coordinates": [ { "allele": "A", "end": 2280, "referenceAllele": "T", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000537196.1:c.1883T>A" ], "proteinEffect": { "hgvs": "ENSP00000439367.1:p.Leu628Ter", "hgvsWellDefined": "ENSP00000439367.1:p.Leu628_Asp983delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360651" }, { "@id": "http://reg.genome.network/allele/PA2580294225", "coordinates": [ { "allele": "A", "end": 3450, "referenceAllele": "T", "start": 3449 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.3:c.2930T>A", "LRG_251t1:c.2930T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Leu977Ter", "hgvsWellDefined": "NP_003631.2:p.Leu977_Asp1332delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028869" }, { "coordinates": [ { "allele": "A", "end": 3020, "referenceAllele": "T", "start": 3019 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_005252285.2:c.2588T>A" ], "proteinEffect": { "hgvs": "XP_005252342.1:p.Leu863Ter", "hgvsWellDefined": "XP_005252342.1:p.Leu863_Asp1218delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059890" }, { "coordinates": [ { "allele": "A", "end": 3246, "referenceAllele": "T", "start": 3245 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.1:c.2930T>A" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Leu977Ter", "hgvsWellDefined": "XP_011517438.1:p.Leu977_Asp1346delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086309" }, { "coordinates": [ { "allele": "A", "end": 3020, "referenceAllele": "T", "start": 3019 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519137.1:c.2588T>A" ], "proteinEffect": { "hgvs": "XP_011517439.1:p.Leu863Ter", "hgvsWellDefined": "XP_011517439.1:p.Leu863_Asp1232delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086310" }, { "@id": "http://reg.genome.network/allele/PA2826988816", "coordinates": [ { "allele": "A", "end": 3309, "referenceAllele": "T", "start": 3308 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.1:c.2588T>A" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Leu863Ter", "hgvsWellDefined": "NP_001305289.1:p.Leu863_Asp1218delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512851" }, { "@id": "http://reg.genome.network/allele/PA2827346746", "coordinates": [ { "allele": "A", "end": 3266, "referenceAllele": "T", "start": 3265 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.1:c.1883T>A" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Leu628Ter", "hgvsWellDefined": "NP_001317678.1:p.Leu628_Asp983delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517073" }, { "@id": "http://reg.genome.network/allele/PA2580294225", "coordinates": [ { "allele": "A", "end": 3454, "referenceAllele": "T", "start": 3453 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.4:c.2930T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Leu977Ter", "hgvsWellDefined": "NP_003631.2:p.Leu977_Asp1332delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525117" }, { "coordinates": [ { "allele": "A", "end": 3257, "referenceAllele": "T", "start": 3256 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.2:c.2930T>A" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Leu977Ter", "hgvsWellDefined": "XP_011517438.1:p.Leu977_Asp1346delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluGlyGluGlySerIleLeuAspArgIleProHisLeuGluGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545238" }, { "coordinates": [ { "allele": "A", "end": 3319, "referenceAllele": "T", "start": 3318 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.3:n.3319T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609323" }, { "@id": "http://reg.genome.network/allele/PA2580294225", "coordinates": [ { "allele": "A", "end": 3246, "referenceAllele": "T", "start": 3245 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.5:c.2930T>A" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Leu977Ter", "hgvsWellDefined": "NP_003631.2:p.Leu977_Asp1332delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.2930T>A" }, "RefSeq": { "hgvs": "NM_003640.5:c.2930T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Leu977Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Leu977Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826988816", "coordinates": [ { "allele": "A", "end": 3101, "referenceAllele": "T", "start": 3100 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.2:c.2588T>A" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Leu863Ter", "hgvsWellDefined": "NP_001305289.1:p.Leu863_Asp1218delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684503" }, { "@id": "http://reg.genome.network/allele/PA2827346746", "coordinates": [ { "allele": "A", "end": 3058, "referenceAllele": "T", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.2:c.1883T>A" ], "proteinEffect": { "hgvs": "NP_001317678.1:p.Leu628Ter", "hgvsWellDefined": "NP_001317678.1:p.Leu628_Asp983delinsTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687100" } ], "type": "nucleotide" }