{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356151927", "communityStandardTitle": [ "NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2170289[alleleid]", "alleleId": 2170289, "preferredName": "NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2107235", "RCV": [ "RCV003029107" ], "variationId": 2107235 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5750019G>T?assembly=hg19", "id": "chr4:g.5750019G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5748292G>T?assembly=hg38", "id": "chr4:g.5748292G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1560329339", "rs": 1560329339 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5748292, "referenceAllele": "G", "start": 5748291 } ], "hgvs": [ "NC_000004.12:g.5748292G>T", "CM000666.2:g.5748292G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5750019, "referenceAllele": "G", "start": 5750018 } ], "hgvs": [ "NC_000004.11:g.5750019G>T", "CM000666.1:g.5750019G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5800920, "referenceAllele": "G", "start": 5800919 } ], "hgvs": [ "NC_000004.10:g.5800920G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 42096, "referenceAllele": "G", "start": 42095 } ], "hgvs": [ "NG_008843.1:g.42096G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001238" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000264956.11:c.1084G>T" ], "proteinEffect": { "hgvs": "ENSP00000264956.6:p.Glu362Ter", "hgvsWellDefined": "ENSP00000264956.6:p.Glu362_Leu992delinsLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742754", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264956.11:c.1084G>T" }, "RefSeq": { "hgvs": "NM_153717.3:c.1084G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264956.6:p.Glu362Ter" }, "RefSeq": { "hgvs": "NP_714928.1:p.Glu362Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000264956.10:c.1084G>T" ], "proteinEffect": { "hgvs": "ENSP00000264956.6:p.Glu362Ter", "hgvsWellDefined": "ENSP00000264956.6:p.Glu362_Leu992delinsLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251631" }, { "coordinates": [ { "allele": "A", "end": 1668, "referenceAllele": "C", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN002365", "geneNCBI_id": 1400, "geneSymbol": "CRMP1", "hgvs": [ "ENST00000506216.5:n.1668C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS337808" }, { "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000509451.1:c.1084G>T" ], "proteinEffect": { "hgvs": "ENSP00000426774.1:p.Glu362Ter", "hgvsWellDefined": "ENSP00000426774.1:p.Glu362_Val535delinsLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340211" }, { "@id": "http://reg.genome.network/allele/PA2826909519", "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306090.1:c.1084G>T" ], "proteinEffect": { "hgvs": "NP_001293019.1:p.Glu362Ter", "hgvsWellDefined": "NP_001293019.1:p.Glu362_Leu991delinsLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025981" }, { "@id": "http://reg.genome.network/allele/PA2826910433", "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306092.1:c.1084G>T" ], "proteinEffect": { "hgvs": "NP_001293021.1:p.Glu362Ter", "hgvsWellDefined": "NP_001293021.1:p.Glu362_Val535delinsLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025983" }, { "@id": "http://reg.genome.network/allele/PA2580530944", "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_153717.2:c.1084G>T" ], "proteinEffect": { "hgvs": "NP_714928.1:p.Glu362Ter", "hgvsWellDefined": "NP_714928.1:p.Glu362_Leu992delinsLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042487" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_006713865.2:c.1084G>T" ], "proteinEffect": { "hgvs": "XP_006713928.1:p.Glu362Ter", "hgvsWellDefined": "XP_006713928.1:p.Glu362_Gly931delinsLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaAlaLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070393" }, { "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_006713866.2:c.1084G>T" ], "proteinEffect": { "hgvs": "XP_006713929.1:p.Glu362Ter", "hgvsWellDefined": 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2121, "geneSymbol": "EVC", "hgvs": [ "XR_924924.2:n.1264G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS607882" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XR_924925.2:n.1264G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS607883" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XR_924926.2:n.1264G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS607884" }, { "@id": "http://reg.genome.network/allele/PA2580530944", "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_153717.3:c.1084G>T" ], 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"NP_714928.1:p.Glu362_Leu992delinsLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" 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"referenceSequence": "http://reg.genome.network/refseq/RS683851" } ], "type": "nucleotide" }