{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374429567", "communityStandardTitle": [ "NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1783841[alleleid]", "alleleId": 1783841, "preferredName": "NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1726314", "RCV": [ "RCV002307285" ], "variationId": 1726314 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.111674706T>A?assembly=hg19", "id": "chr9:g.111674706T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108912426T>A?assembly=hg38", "id": "chr9:g.108912426T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2537926622", "rs": 2537926622 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 108912426, "referenceAllele": "T", "start": 108912425 } ], "hgvs": [ "NC_000009.12:g.108912426T>A", "CM000671.2:g.108912426T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 111674706, "referenceAllele": "T", "start": 111674705 } ], "hgvs": [ "NC_000009.11:g.111674706T>A", "CM000671.1:g.111674706T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 110714527, "referenceAllele": "T", "start": 110714526 } ], "hgvs": [ "NC_000009.10:g.110714527T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 26903, "referenceAllele": "A", "start": 26902 } ], "hgvs": [ "NG_008788.1:g.26903A>T", "LRG_251:g.26903A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001215" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "A", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.10:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Lys343Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Lys343_Asp1332delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.1027A>T" }, "RefSeq": { "hgvs": "NM_003640.5:c.1027A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Lys343Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Lys343Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 857, "endIntronDirection": "-", "endIntronOffset": 4021, "referenceAllele": "A", "start": 857, "startIntronDirection": "-", "startIntronOffset": 4022 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000495759.6:c.553-4022A>T" ], "proteinEffect": { "hgvs": "ENSP00000433514.2:n.553-4022A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS757811" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674535.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502142.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000502142.1:p.Lys343_Ser1302delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProMetLeuSerPheLeuTyrHisGlnArgSerThrGluGluProSerGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774487" }, { "coordinates": [ { "allele": "T", "end": 2834, "referenceAllele": "A", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674704.1:n.2834A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774631" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674836.1:n.1332A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774738" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674890.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000501870.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000501870.1:p.Lys343_Ser928delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysPheSerLeuIleIlePheLeuGlySerGlnArgIleSerSerIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774783" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "A", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674938.1:c.685A>T" ], "proteinEffect": { "hgvs": "ENSP00000502427.1:p.Lys229Ter", "hgvsWellDefined": "ENSP00000502427.1:p.Lys229_Asp1218delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774824" }, { "coordinates": [ { "allele": "T", "end": 1402, "referenceAllele": "A", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674948.1:c.685A>T" ], "proteinEffect": { "hgvs": "ENSP00000501602.1:p.Lys229Ter", "hgvsWellDefined": "ENSP00000501602.1:p.Lys229_Asp1218delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774832" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675052.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502664.1:p.Lys343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774927" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675078.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000501549.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000501549.1:p.Lys343_Ser1299delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProThrTrpGlyGluGlyValLeuLeuCysCysProSerTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774947" }, { "coordinates": [ { "allele": "T", "end": 1146, "referenceAllele": "A", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675215.1:c.*251A>T" ], "proteinEffect": { "hgvs": "ENSP00000502558.1:n.*251A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775066" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675233.1:n.2823A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775081" }, { "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "A", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675321.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502751.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000502751.1:p.Lys343_His1184delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuGlyAspHisProArgIleAlaGluLysArgSerGlyArgSerThrAlaSerLysLysAlaValArgTrpArgThrTrpProSerTrpArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775156" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675325.1:n.2823A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775159" }, { "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "A", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675335.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502182.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000502182.1:p.Lys343_Glu446delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlySerLeuIleLeuPhePheLeuPheHisCysArgGlnGlyValGlyAspSerLeuProAlaAspCysGlySerAlaSerHisValHisLeuProThrAlaValProThrProCysGluSerSerHisIleLeuSerThrProSerLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775167" }, { "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "A", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675400.1:n.2700A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775225" }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "A", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675406.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000501893.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000501893.1:p.Lys343_Asp1332delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775231" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "A", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675458.1:c.1120A>T" ], "proteinEffect": { "hgvs": "ENSP00000501754.1:n.1120A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775277" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675507.1:n.2823A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775317" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675535.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000501667.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000501667.1:p.Lys343_Ser810delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgArgCysHisGluAspHisValProCysThrSerTyrGlnGlnCysLeuProValGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775340" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675566.1:n.2823A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775366" }, { "coordinates": [ { "allele": "T", "end": 4075, "referenceAllele": "A", "start": 4074 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675602.1:n.4075A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775397" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675647.1:n.1332A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775439" }, { "coordinates": [ { "allele": "T", "end": 1027, "referenceAllele": "A", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675711.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502485.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000502485.1:p.Lys343_Lys1091delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnArgTrpGlyValThrSerCysProArgTrpSerGluThrProGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775494" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675727.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000501722.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000501722.1:p.Lys343_Gly1295delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLysTrpThrValIlePheLeuSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775506" }, { "coordinates": [ { "allele": "T", "end": 2661, "referenceAllele": "A", "start": 2660 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675748.1:n.2661A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775526" }, { "coordinates": [ { "allele": "T", "end": 1341, "referenceAllele": "A", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675765.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502640.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000502640.1:p.Lys343_Leu892delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyArgAspProLeuThrGluLysValLeuLysValAlaValThrAlaThrSerLeuLeuGlnGluMetLeuProLeuIleLeuMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775539" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675825.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502632.1:p.Lys343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775593" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675877.1:n.1332A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775641" }, { "coordinates": [ { "allele": "T", "end": 2815, "referenceAllele": "A", "start": 2814 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675893.1:c.*2096A>T" ], "proteinEffect": { "hgvs": "ENSP00000502001.1:n.*2096A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775655" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675943.1:n.2823A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775696" }, { "coordinates": [ { "allele": "T", "end": 1241, "referenceAllele": "A", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675979.1:c.*270A>T" ], "proteinEffect": { "hgvs": "ENSP00000502208.1:n.*270A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775725" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "A", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676044.1:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502378.1:p.Lys343Ter", "hgvsWellDefined": "ENSP00000502378.1:p.Lys343_Lys812delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysArgLeuLysSerAsnGlyIlePheLeuSerAspAspLeuSerProGlnLeuPheAsnGluThrLeuSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775782" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676086.1:n.2823A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775820" }, { "coordinates": [ { "allele": "T", "end": 2855, "referenceAllele": "A", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676121.1:n.2855A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775850" }, { "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "A", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676237.1:c.928A>T" ], "proteinEffect": { "hgvs": "ENSP00000501828.1:p.Lys310Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775950" }, { "coordinates": [ { "allele": "T", "end": 1017, "referenceAllele": "A", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676416.1:c.685A>T" ], "proteinEffect": { "hgvs": "ENSP00000501660.1:p.Lys229Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776100" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676424.1:n.2823A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776106" }, { "coordinates": [ { "allele": "T", "end": 5496, "referenceAllele": "A", "start": 5495 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000676429.1:n.5496A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776111" }, { "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "A", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000374647.9:c.1027A>T" ], "proteinEffect": { "hgvs": "ENSP00000363779.5:p.Lys343Ter", "hgvsWellDefined": "ENSP00000363779.5:p.Lys343_Asp1332delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270343" }, { "coordinates": [ { "allele": "T", "end": 377, "referenceAllele": "A", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000537196.1:c.-21A>T" ], "proteinEffect": { "hgvs": "ENSP00000439367.1:n.-21A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS360651" }, { "@id": "http://reg.genome.network/allele/PA2580294139", "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "A", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.3:c.1027A>T", "LRG_251t1:c.1027A>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Lys343Ter", "hgvsWellDefined": "NP_003631.2:p.Lys343_Asp1332delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028869" }, { "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "A", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_005252285.2:c.685A>T" ], "proteinEffect": { "hgvs": "XP_005252342.1:p.Lys229Ter", "hgvsWellDefined": "XP_005252342.1:p.Lys229_Asp1218delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059890" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "A", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.1:c.1027A>T" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Lys343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086309" }, { "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "A", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519137.1:c.685A>T" ], "proteinEffect": { "hgvs": "XP_011517439.1:p.Lys229Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086310" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "A", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.1:n.1343A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125988" }, { "@id": "http://reg.genome.network/allele/PA2826988245", "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "A", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.1:c.685A>T" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Lys229Ter", "hgvsWellDefined": "NP_001305289.1:p.Lys229_Asp1218delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512851" }, { "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "A", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.1:c.-21A>T" ], "proteinEffect": { "hgvs": "NP_001317678.1:n.-21A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517073" }, { "@id": "http://reg.genome.network/allele/PA2580294139", "coordinates": [ { "allele": "T", "end": 1551, "referenceAllele": "A", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.4:c.1027A>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Lys343Ter", "hgvsWellDefined": "NP_003631.2:p.Lys343_Asp1332delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525117" }, { "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "A", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XM_011519136.2:c.1027A>T" ], "proteinEffect": { "hgvs": "XP_011517438.1:p.Lys343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS545238" }, { "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "A", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "XR_929859.3:n.1354A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609323" }, { "@id": "http://reg.genome.network/allele/PA2580294139", "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "A", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_003640.5:c.1027A>T" ], "proteinEffect": { "hgvs": "NP_003631.2:p.Lys343Ter", "hgvsWellDefined": "NP_003631.2:p.Lys343_Asp1332delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374647.10:c.1027A>T" }, "RefSeq": { "hgvs": "NM_003640.5:c.1027A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363779.5:p.Lys343Ter" }, "RefSeq": { "hgvs": "NP_003631.2:p.Lys343Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826988245", "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "A", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001318360.2:c.685A>T" ], "proteinEffect": { "hgvs": "NP_001305289.1:p.Lys229Ter", "hgvsWellDefined": "NP_001305289.1:p.Lys229_Asp1218delinsSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlyAsnArgValLeuValThrValPheArgGlnThrValValProProProMetCysThrTyrGlnLeuLeuPheProHisProValAsnGlnValThrPheLeuAlaHisProGlnLysSerAsnAspLeuAlaValLeuAspAlaSerAsnGlnIleSerValTyrLysCysGlyAspCysProSerAlaAspProThrValLysLeuGlyAlaValGlyGlySerGlyPheLysValCysLeuArgThrProHisLeuGluLysArgTyrLysIleGlnPheGluAsnAsnGluAspGlnAspValAsnProLeuLysLeuGlyLeuLeuThrTrpIleGluGluAspValPheLeuAlaValSerHisSerGluPheSerProArgSerValIleHisHisLeuThrAlaAlaSerSerGluMetAspGluGluHisGlyGlnLeuAsnValSerSerSerAlaAlaValAspGlyValIleIleSerLeuCysCysAsnSerLysThrLysSerValValLeuGlnLeuAlaAspGlyGlnIlePheLysTyrLeuTrpGluSerProSerLeuAlaIleLysProTrpLysAsnSerGlyGlyPheProValArgPheProTyrProCysThrGlnThrGluLeuAlaMetIleGlyGluGluGluCysValLeuGlyLeuThrAspArgCysArgPhePheIleAsnAspIleGluValAlaSerAsnIleThrSerPheAlaValTyrAspGluPheLeuLeuLeuThrThrHisSerHisThrCysGlnCysPheCysLeuArgAspAlaSerPheLysThrLeuGlnAlaGlyLeuSerSerAsnHisValSerHisGlyGluValLeuArgLysValGluArgGlySerArgIleValThrValValProGlnAspThrLysLeuValLeuGlnMetProArgGlyAsnLeuGluValValHisHisArgAlaLeuValLeuAlaGlnIleArgLysTrpLeuAspLysLeuMetPheLysGluAlaPheGluCysMetArgLysLeuArgIleAsnLeuAsnLeuIleTyrAspHisAsnProLysValPheLeuGlyAsnValGluThrPheIleLysGlnIleAspSerValAsnHisIleAsnLeuPhePheThrGluLeuLysGluGluAspValThrLysThrMetTyrProAlaProValThrSerSerValTyrLeuSerArgAspProAspGlyAsnLysIleAspLeuValCysAspAlaMetArgAlaValMetGluSerIleAsnProHisLysTyrCysLeuSerIleLeuThrSerHisValLysLysThrThrProGluLeuGluIleValLeuGlnLysValHisGluLeuGlnGlyAsnAlaProSerAspProAspAlaValSerAlaGluGluAlaLeuLysTyrLeuLeuHisLeuValAspValAsnGluLeuTyrAspHisSerLeuGlyThrTyrAspPheAspLeuValLeuMetValAlaGluLysSerGlnLysAspProLysGluTyrLeuProPheLeuAsnThrLeuLysLysMetGluThrAsnTyrGlnArgPheThrIleAspLysTyrLeuLysArgTyrGluLysAlaIleGlyHisLeuSerLysCysGlyProGluTyrPheProGluCysLeuAsnLeuIleLysAspLysAsnLeuTyrAsnGluAlaLeuLysLeuTyrSerProSerSerGlnGlnTyrGlnAspIleSerIleAlaTyrGlyGluHisLeuMetGlnGluHisMetTyrGluProAlaGlyLeuMetPheAlaArgCysGlyAlaHisGluLysAlaLeuSerAlaPheLeuThrCysGlyAsnTrpLysGlnAlaLeuCysValAlaAlaGlnLeuAsnPheThrLysAspGlnLeuValGlyLeuGlyArgThrLeuAlaGlyLysLeuValGluGlnArgLysHisIleAspAlaAlaMetValLeuGluGluCysAlaGlnAspTyrGluGluAlaValLeuLeuLeuLeuGluGlyAlaAlaTrpGluGluAlaLeuArgLeuValTyrLysTyrAsnArgLeuAspIleIleGluThrAsnValLysProSerIleLeuGluAlaGlnLysAsnTyrMetAlaPheLeuAspSerGlnThrAlaThrPheSerArgHisLysLysArgLeuLeuValValArgGluLeuLysGluGlnAlaGlnGlnAlaGlyLeuAspAspGluValProHisGlyGlnGluSerAspLeuPheSerGluThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684503" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "A", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "NM_001330749.2:c.-21A>T" ], "proteinEffect": { "hgvs": "NP_001317678.1:n.-21A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687100" } ], "type": "nucleotide" }