{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360802726", "communityStandardTitle": [ "NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2524031[alleleid]", "alleleId": 2524031, "preferredName": "NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2501139", "RCV": [ "RCV003226736" ], "variationId": 2501139 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.131705942C>A?assembly=hg19", "id": "chr5:g.131705942C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.132370250C>A?assembly=hg38", "id": "chr5:g.132370250C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/386134190", "rs": 386134190 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-132370250-C-A?dataset=gnomad_r4", "id": "5-132370250-C-A", "variant": "5:132370250 C / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 132370250, "referenceAllele": "C", "start": 132370249 } ], "hgvs": [ "NC_000005.10:g.132370250C>A", "CM000667.2:g.132370250C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131705942, "referenceAllele": "C", "start": 131705941 } ], "hgvs": [ "NC_000005.9:g.131705942C>A", "CM000667.1:g.131705942C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131733841, "referenceAllele": "C", "start": 131733840 } ], "hgvs": [ "NC_000005.8:g.131733841C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 5542, "referenceAllele": "C", "start": 5541 } ], "hgvs": [ "NG_008982.1:g.5542C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001353" }, { "coordinates": [ { "allele": "A", "end": 5547, "referenceAllele": "C", "start": 5546 } ], "hgvs": [ "NG_008982.2:g.5547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616121" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000415928.6:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000388838.2:p.Ser93Ter", "hgvsWellDefined": "ENSP00000388838.2:p.Ser93_Glu431delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824654" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.7:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Ser93Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Ser93_Phe581delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824868" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000448810.6:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000401860.2:p.Ser93Ter", "hgvsWellDefined": "ENSP00000401860.2:p.Ser93_Gly353delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuCysAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824998" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000686757.1:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000510721.1:p.Ser93Ter", "hgvsWellDefined": "ENSP00000510721.1:p.Ser93_Pro284delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830725" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000687740.1:n.412C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831241" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000689271.1:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000510797.1:p.Ser93Ter", "hgvsWellDefined": "ENSP00000510797.1:p.Ser93_Phe506delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832084" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000690900.1:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000510703.1:p.Ser93Ter", "hgvsWellDefined": "ENSP00000510703.1:p.Ser93_Pro268delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832936" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692413.1:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000509374.1:p.Ser93Ter", "hgvsWellDefined": "ENSP00000509374.1:p.Ser93_Phe551delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833710" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692825.1:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000509447.1:p.Ser93Ter", "hgvsWellDefined": "ENSP00000509447.1:p.Ser93_Leu138delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluThrValGlyProThrMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833907" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693308.1:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000509770.1:p.Ser93Ter", "hgvsWellDefined": "ENSP00000509770.1:p.Ser93_Phe573delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyGlyLeuThrGluIleGlyProCysThrAlaArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834175" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693763.1:n.412C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834419" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.8:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Ser93Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Ser93_Phe557delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741243", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.278C>A" }, "RefSeq": { "hgvs": "NM_003060.4:c.278C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Ser93Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Ser93Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.7:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Ser93Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Ser93_Phe557delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249376" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.6:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Ser93Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Ser93_Phe581delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS293343" }, { "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000437841.6:c.278C>A" ], "proteinEffect": { "hgvs": "ENSP00000400553.1:p.Ser93Ter", "hgvsWellDefined": "ENSP00000400553.1:p.Ser93_Val141delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluGlyGlnLysPheLeuAlaSerGlnPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294648" }, { "@id": "http://reg.genome.network/allele/PA2826924167", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.1:c.278C>A" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Ser93Ter", "hgvsWellDefined": "NP_001295051.1:p.Ser93_Phe581delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026154" }, { "@id": "http://reg.genome.network/allele/PA2741897612", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.3:c.278C>A" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Ser93Ter", "hgvsWellDefined": "NP_003051.1:p.Ser93_Phe557delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028339" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_427718.1:n.547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117842" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948290.1:n.547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS141868" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.1:n.547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS141869" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XM_011543590.2:c.-354C>A" ], "proteinEffect": { "hgvs": "XP_011541892.1:n.-354C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS555294" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_001742215.1:n.547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591988" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_001742216.1:n.547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591989" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_427718.2:n.547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606473" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948290.2:n.547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614989" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.2:n.547C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614990" }, { "@id": "http://reg.genome.network/allele/PA2741897612", "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.4:c.278C>A" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Ser93Ter", "hgvsWellDefined": "NP_003051.1:p.Ser93_Phe557delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695718", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.278C>A" }, "RefSeq": { "hgvs": "NM_003060.4:c.278C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Ser93Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Ser93Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826924167", "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.2:c.278C>A" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Ser93Ter", "hgvsWellDefined": "NP_001295051.1:p.Ser93_Phe581delinsAlaLeuGlyLeuGluProGlyArgAspValAspLeuGlyGlnLeuGluGlnGluSerCysLeuAspGlyTrpGluPheSerGlnAspValTyrLeuSerThrIleValThrGluGlnAspSerGlyAlaTyrAsnAlaMetLysAsnArgMetGlyLysLysProAlaLeuCysLeuProAlaGlnTrpAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717230" } ], "type": "nucleotide" }