{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356150181", "communityStandardTitle": [ "NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620169[alleleid]", "alleleId": 620169, "preferredName": "NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/632443", "RCV": [ "RCV001856175", "RCV004549854" ], "variationId": 632443 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5747047C>A?assembly=hg19", "id": "chr4:g.5747047C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5745320C>A?assembly=hg38", "id": "chr4:g.5745320C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1560323242", "rs": 1560323242 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5745320-C-A?dataset=gnomad_r3", "id": "4-5745320-C-A", "variant": "4:5745320 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5745320-C-A?dataset=gnomad_r4", "id": "4-5745320-C-A", "variant": "4:5745320 C / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 5745320, "referenceAllele": "C", "start": 5745319 } ], "hgvs": [ "NC_000004.12:g.5745320C>A", "CM000666.2:g.5745320C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 5747047, "referenceAllele": "C", "start": 5747046 } ], "hgvs": [ "NC_000004.11:g.5747047C>A", "CM000666.1:g.5747047C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 5797948, "referenceAllele": "C", "start": 5797947 } ], "hgvs": [ "NC_000004.10:g.5797948C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 39124, "referenceAllele": "C", "start": 39123 } ], "hgvs": [ "NG_008843.1:g.39124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001238" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000264956.11:c.918C>A" ], "proteinEffect": { "hgvs": "ENSP00000264956.6:p.Tyr306Ter", "hgvsWellDefined": "ENSP00000264956.6:p.Tyr306_Leu992delinsSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742754", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264956.11:c.918C>A" }, "RefSeq": { "hgvs": "NM_153717.3:c.918C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264956.6:p.Tyr306Ter" }, "RefSeq": { "hgvs": "NP_714928.1:p.Tyr306Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000264956.10:c.918C>A" ], "proteinEffect": { "hgvs": "ENSP00000264956.6:p.Tyr306Ter", "hgvsWellDefined": "ENSP00000264956.6:p.Tyr306_Leu992delinsSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251631" }, { "coordinates": [ { "allele": "A", "end": 1084, "referenceAllele": "C", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "ENST00000509451.1:c.918C>A" ], "proteinEffect": { "hgvs": "ENSP00000426774.1:p.Tyr306Ter", "hgvsWellDefined": "ENSP00000426774.1:p.Tyr306_Val535delinsSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340211" }, { "@id": "http://reg.genome.network/allele/PA2826909476", "coordinates": [ { "allele": "A", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306090.1:c.918C>A" ], "proteinEffect": { "hgvs": "NP_001293019.1:p.Tyr306Ter", "hgvsWellDefined": "NP_001293019.1:p.Tyr306_Leu991delinsSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025981" }, { "@id": "http://reg.genome.network/allele/PA2826910390", "coordinates": [ { "allele": "A", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_001306092.1:c.918C>A" ], "proteinEffect": { "hgvs": "NP_001293021.1:p.Tyr306Ter", "hgvsWellDefined": "NP_001293021.1:p.Tyr306_Val535delinsSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnLysAlaMetArgArgHisArgAspThrGlyLysGluAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025983" }, { "@id": "http://reg.genome.network/allele/PA913202265", "coordinates": [ { "allele": "A", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "NM_153717.2:c.918C>A" ], "proteinEffect": { "hgvs": "NP_714928.1:p.Tyr306Ter", "hgvsWellDefined": "NP_714928.1:p.Tyr306_Leu992delinsSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042487" }, { "coordinates": [ { "allele": "A", "end": 1108, "referenceAllele": "C", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_006713865.2:c.918C>A" ], "proteinEffect": { "hgvs": "XP_006713928.1:p.Tyr306Ter", "hgvsWellDefined": "XP_006713928.1:p.Tyr306_Gly931delinsSerGluGlnLeuIleAspAsnMetGluAlaPheTrpLysGlnMetAlaAsnIleGlnHisPheLeuValAspGlnPheLysCysSerSerSerLysAlaArgGlnLeuMetMetThrLeuThrGluArgMetIleAlaAlaGluGlyLeuLeuCysAspSerGlnGluLeuGlnAlaLeuAspAlaLeuGluArgThrMetGlyArgAlaHisMetAlaLysValIleGluPheLeuLysLeuGlnValGlnGluGluThrArgCysArgLeuAlaAlaIleSerHisGlyLeuGluLeuLeuAlaGlyGluGlyLysLeuSerGlyArgGlnLysGluGluLeuLeuThrGlnGlnHisLysAlaPheTrpGlnGluAlaGluArgPheSerArgGluPheValGlnArgGlyLysAspLeuValThrAlaSerLeuAlaHisGlnValGluGlyThrAlaLysLeuThrLeuAlaGlnGluGluGluGlnArgSerPheLeuAlaGluAlaGlnProThrAlaAspProGluLysPheLeuGluAlaPheHisGluValLeuGluArgGlnArgLeuMetGlnCysAspLeuGluGluGluGluAsnValArgAlaThrGluAlaValValAlaLeuCysGlnGluLeuTyrPheSerThrValAspThrPheGlnLysPheValAspAlaLeuPheLeuGlnThrLeuProGlyMetThrGlyLeuProProGluGluCysAspTyrLeuArgGlnGluValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuAlaAlaLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070393" }, { "coordinates": [ { "allele": "A", "end": 1108, "referenceAllele": "C", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN003497", "geneNCBI_id": 2121, "geneSymbol": "EVC", "hgvs": [ "XM_006713866.2:c.918C>A" ], "proteinEffect": { "hgvs": "XP_006713929.1:p.Tyr306Ter", "hgvsWellDefined": 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