{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5175472", "communityStandardTitle": [ "NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=544670[alleleid]", "alleleId": 544670, "preferredName": "NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552197", "RCV": [ "RCV000667419", "RCV001855480" ], "variationId": 552197 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-111693348-G-A", "id": "9-111693348-G-A", "variant": "9:111693348 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.111693348G>A?assembly=hg19", "id": "chr9:g.111693348G>A" }, { "@id": "http://myvariant.info/v1/variant/chr9:g.111693348_111693350delinsAGA?assembly=hg19", "id": "chr9:g.111693348_111693350delinsAGA" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.108931068G>A?assembly=hg38", "id": "chr9:g.108931068G>A" }, { "@id": "http://myvariant.info/v1/variant/chr9:g.108931068_108931070delinsAGA?assembly=hg38", "id": "chr9:g.108931068_108931070delinsAGA" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/868073099", "rs": 868073099 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-111693348-G-A?dataset=gnomad_r2_1", "id": "9-111693348-G-A", "variant": "9:111693348 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-108931068-G-A?dataset=gnomad_r3", "id": "9-108931068-G-A", "variant": "9:108931068 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-108931068-G-A?dataset=gnomad_r4", "id": "9-108931068-G-A", "variant": "9:108931068 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 108931068, "referenceAllele": "G", "start": 108931067 } ], "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774783" }, { "coordinates": [ { "allele": "T", "end": 259, "endIntronDirection": "-", "endIntronOffset": 1146, "referenceAllele": "C", "start": 259, "startIntronDirection": "-", "startIntronOffset": 1147 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674938.1:c.-192-1147C>T" ], "proteinEffect": { "hgvs": "ENSP00000502427.1:n.-192-1147C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774824" }, { "coordinates": [ { "allele": "T", "end": 465, "endIntronDirection": "-", "endIntronOffset": 11, "referenceAllele": "C", "start": 465, "startIntronDirection": "-", "startIntronOffset": 12 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000674948.1:c.-252-12C>T" ], "proteinEffect": { "hgvs": "ENSP00000501602.1:n.-252-12C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774832" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675052.1:c.79C>T" ], "proteinEffect": { "hgvs": "ENSP00000502664.1:p.Arg27Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774927" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675078.1:c.79C>T" ], "proteinEffect": { "hgvs": "ENSP00000501549.1:p.Arg27Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774947" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675215.1:c.79C>T" ], "proteinEffect": { "hgvs": "ENSP00000502558.1:p.Arg27Ter", "hgvsWellDefined": "ENSP00000502558.1:p.Arg27_Arg195delinsThrGluGlnGlyThrValLeuIleGlySerGluHisGlyLeuIleGluValAspProValSerArgGluValLysAsnGluValSerLeuValAlaGluGlyPheLeuProGluAspGlySerGlyArgIleValGlyValGlnAspLeuLeuAspGlnGluSerValCysValAlaThrAlaSerGlyAspValIleLeuCysSerLeuSerThrGlnGlnLeuGluCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetThrLeuArgGlnPheAspCysIleTyrThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775066" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675233.1:n.384C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775081" }, { "coordinates": [ { 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"ENSP00000502182.1:p.Arg27_Glu446delinsThrGluGlnGlyThrValLeuIleGlySerGluHisGlyLeuIleGluValAspProValSerArgGluValLysAsnGluValSerLeuValAlaGluGlyPheLeuProGluAspGlySerGlyArgIleValGlyValGlnAspLeuLeuAspGlnGluSerValCysValAlaThrAlaSerGlyAspValIleLeuCysSerLeuSerThrGlnGlnLeuGluCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetHisGluSerAlaLeuProTrpAspAspHisArgProGlnValThrTrpArgGlyAspGlyGlnPhePheAlaValSerValValCysProGluThrGlyAlaArgLysValArgValTrpAsnArgGluPheAlaLeuGlnSerThrSerGluProValAlaGlyLeuGlyProAlaLeuAlaTrpLysProSerGlySerLeuIleAlaSerThrGlnAspLysProAsnGlnGlnAspIleValPhePheGluLysAsnGlyLeuLeuHisGlyHisPheThrLeuProPheLeuLysAspGluValLysValAsnAspLeuLeuTrpAsnAlaAspSerSerValLeuAlaValTrpLeuGluAspLeuGlnArgGluGluSerSerIleProLysThrCysValGlnLeuTrpThrValGlyAsnTyrHisTrpTyrLeuLysGlnSerLeuSerPheSerThrCysGlyLysSerLysIleValSerLeuMetTrpAspProValThrProTyrArgLeuHisValLeuCysGlnGlyTrpHisTyrLeuAlaTyrAspTrpHisTrpThrThrAspArgSerValGlyAspAsnSerSerAspLeuSerAsnValAlaValIleAspGlySerLeuIleLeuPhePheLeuPheHisCysArgGlnGlyValGlyAspSerLeuProAlaAspCysGlySerAlaSerHisValHisLeuProThrAlaValProThrProCysGluSerSerHisIleLeuSerThrProSerLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775167" }, { "coordinates": [ { "allele": "T", "end": 272, "endIntronDirection": "-", "endIntronOffset": 11, "referenceAllele": "C", "start": 272, "startIntronDirection": "-", "startIntronOffset": 12 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675400.1:n.273-12C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775225" }, { "coordinates": [ { "allele": "T", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675406.1:c.79C>T" ], "proteinEffect": { "hgvs": "ENSP00000501893.1:p.Arg27Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775231" }, { "coordinates": [ { "allele": "T", "end": 79, "referenceAllele": "C", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675458.1:c.79C>T" ], "proteinEffect": { "hgvs": "ENSP00000501754.1:p.Arg27Ter", "hgvsWellDefined": "ENSP00000501754.1:p.Arg27_Phe186delinsThrGluGlnGlyThrValLeuIleGlySerGluHisGlyLeuIleGluValAspProValSerArgGluValLysAsnGluValSerLeuValAlaGluGlyPheLeuProGluAspGlySerGlyArgIleValGlyValGlnAspLeuLeuAspGlnGluSerValCysValAlaThrAlaSerGlyAspValIleLeuCysSerLeuSerThrGlnGlnLeuGluCysValGlySerValAlaSerGlyIleSerValMetSerTrpSerProAspGlnGluLeuValLeuLeuAlaThrGlyGlnGlnThrLeuIleMetMetThrLysAspPheGluProIleLeuGluGlnGlnIleHisGlnAspAspPheGlyGluSerLysPheIleThrValGlyTrpGlyArgLysGluThrGlnPheHisGlySerGluGlyArgGlnAlaAlaPheGlnMetGlnMetAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775277" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN005959", "geneNCBI_id": 8518, "geneSymbol": "ELP1", "hgvs": [ "ENST00000675507.1:n.384C>T" ], "referenceSequence": 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