{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA326877", "communityStandardTitle": [ "NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=68203[alleleid]", "alleleId": 68203, "preferredName": "NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53535", "RCV": [ "RCV000576558", "RCV003466905", "RCV001826644" ], "variationId": 53535 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117242905G>A?assembly=hg19", "id": "chr7:g.117242905G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117602851G>A?assembly=hg38", "id": "chr7:g.117602851G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397508413", "rs": 397508413 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 117602851, "referenceAllele": "G", "start": 117602850 } ], "hgvs": [ "NC_000007.14:g.117602851G>A", "CM000669.2:g.117602851G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 117242905, "referenceAllele": "G", "start": 117242904 } ], "hgvs": [ "NC_000007.13:g.117242905G>A", "CM000669.1:g.117242905G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 117030141, "referenceAllele": "G", "start": 117030140 } ], "hgvs": [ "NC_000007.12:g.117030141G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 142068, "referenceAllele": "G", "start": 142067 } ], "hgvs": [ "NG_016465.4:g.142068G>A", "LRG_663:g.142068G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003205" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647720.2:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000497673.2:p.Trp882Ter", "hgvsWellDefined": "ENSP00000497673.2:p.Trp882_His1196delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906457" }, { "coordinates": [ { "allele": "A", "end": 2620, "referenceAllele": "G", "start": 2619 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.2:c.*2359G>A" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*2359G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS906459" }, { "coordinates": [ { "allele": "A", "end": 2546, "referenceAllele": "G", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.2:c.2462G>A" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Trp821Ter", "hgvsWellDefined": "ENSP00000497203.1:p.Trp821_Leu1419delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906473" }, { "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000685018.2:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000510194.2:p.Trp882Ter", "hgvsWellDefined": "ENSP00000510194.2:p.Trp882_Ala1300delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906564" }, { "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000687278.2:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000509593.2:p.Trp882Ter", "hgvsWellDefined": "ENSP00000509593.2:p.Trp882_Ser1180delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906570" }, { "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699585.1:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000514456.1:p.Trp882Ter", "hgvsWellDefined": "ENSP00000514456.1:p.Trp882_His1196delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910468" }, { "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699598.1:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000514467.1:p.Trp882Ter", "hgvsWellDefined": "ENSP00000514467.1:p.Trp882_Cys1428delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuLysArgThrLysCysGlySerThrIleProSerArgAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910478" }, { "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699599.1:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000514468.1:p.Trp882Ter", "hgvsWellDefined": "ENSP00000514468.1:p.Trp882_Ala1300delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910479" }, { "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699600.1:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000514469.1:p.Trp882Ter", "hgvsWellDefined": "ENSP00000514469.1:p.Trp882_Ser1180delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910480" }, { "coordinates": [ { "allele": "A", "end": 2747, "referenceAllele": "G", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699601.1:c.*945G>A" ], "proteinEffect": { "hgvs": "ENSP00000514470.1:n.*945G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910481" }, { "coordinates": [ { "allele": "A", "end": 2752, "referenceAllele": "G", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699602.1:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000514471.1:p.Trp882Ter", "hgvsWellDefined": "ENSP00000514471.1:p.Trp882_Leu1478delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910482" }, { "coordinates": [ { "allele": "A", "end": 2727, "referenceAllele": "G", "start": 2726 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699604.1:c.*2469G>A" ], "proteinEffect": { "hgvs": "ENSP00000514472.1:n.*2469G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910484" }, { "coordinates": [ { "allele": "A", "end": 2641, "referenceAllele": "G", "start": 2640 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699605.1:c.2219G>A" ], "proteinEffect": { "hgvs": "ENSP00000514473.1:p.Trp740Ter", "hgvsWellDefined": "ENSP00000514473.1:p.Trp740_Leu1338delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910485" }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000687278.1:c.236G>A" ], "proteinEffect": { "hgvs": "ENSP00000509593.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000509593.1:p.Trp79_Ser377delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831011" }, { "coordinates": [ { "allele": "A", "end": 2715, "referenceAllele": "G", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.11:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Trp882Ter", "hgvsWellDefined": "ENSP00000003084.6:p.Trp882_Leu1480delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS739921", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.2645G>A" }, "RefSeq": { "hgvs": "NM_000492.4:c.2645G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Trp882Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Trp882Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "G", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647720.1:c.295G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769573" }, { "coordinates": [ { "allele": "A", "end": 1511, "referenceAllele": "G", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000648260.1:c.1427G>A" ], "proteinEffect": { "hgvs": "ENSP00000497957.1:p.Trp476Ter", "hgvsWellDefined": "ENSP00000497957.1:p.Trp476_Cys842delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769868" }, { "coordinates": [ { "allele": "A", "end": 2546, "referenceAllele": "G", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649406.1:c.2462G>A" ], "proteinEffect": { "hgvs": "ENSP00000497965.1:p.Trp821Ter", "hgvsWellDefined": "ENSP00000497965.1:p.Trp821_Cys1187delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770520" }, { "coordinates": [ { "allele": "A", "end": 2462, "referenceAllele": "G", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.1:c.2462G>A" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Trp821Ter", "hgvsWellDefined": "ENSP00000497203.1:p.Trp821_Leu1419delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770746" }, { "coordinates": [ { "allele": "A", "end": 2777, "referenceAllele": "G", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.10:c.2645G>A" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Trp882Ter", "hgvsWellDefined": "ENSP00000003084.6:p.Trp882_Leu1480delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247433" }, { "coordinates": [ { "allele": "A", "end": 2555, "referenceAllele": "G", "start": 2554 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000426809.5:c.2555G>A" ], "proteinEffect": { "hgvs": "ENSP00000389119.1:p.Trp852Ter", "hgvsWellDefined": "ENSP00000389119.1:p.Trp852Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289393" }, { "@id": "http://reg.genome.network/allele/PA326878", "coordinates": [ { "allele": "A", "end": 2777, "referenceAllele": "G", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.3:c.2645G>A", "LRG_663t1:c.2645G>A" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Trp882Ter", "hgvsWellDefined": "NP_000483.3:p.Trp882_Leu1480delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006546" }, { "coordinates": [ { "allele": "A", "end": 2763, "referenceAllele": "G", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515751.1:c.2735G>A" ], "proteinEffect": { "hgvs": "XP_011514053.1:p.Trp912Ter", "hgvsWellDefined": "XP_011514053.1:p.Trp912_Leu1510delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082962" }, { "coordinates": [ { "allele": "A", "end": 2777, "referenceAllele": "G", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515752.1:c.2735G>A" ], "proteinEffect": { "hgvs": "XP_011514054.1:p.Trp912Ter", "hgvsWellDefined": "XP_011514054.1:p.Trp912_Tyr1449delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082963" }, { "coordinates": [ { "allele": "A", "end": 2867, "referenceAllele": "G", "start": 2866 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515753.1:c.2402G>A" ], "proteinEffect": { "hgvs": "XP_011514055.1:p.Trp801Ter", "hgvsWellDefined": "XP_011514055.1:p.Trp801_Leu1399delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082964" }, { "coordinates": [ { "allele": "A", "end": 3785, "referenceAllele": "G", "start": 3784 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515754.1:c.2402G>A" ], "proteinEffect": { "hgvs": "XP_011514056.1:p.Trp801Ter", "hgvsWellDefined": "XP_011514056.1:p.Trp801_Leu1399delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082965" }, { "@id": "http://reg.genome.network/allele/PA326878", "coordinates": [ { "allele": "A", "end": 2715, "referenceAllele": "G", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.4:c.2645G>A" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Trp882Ter", "hgvsWellDefined": "NP_000483.3:p.Trp882_Leu1480delinsLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674867", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.2645G>A" }, "RefSeq": { "hgvs": "NM_000492.4:c.2645G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Trp882Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Trp882Ter" } } } } ], "type": "nucleotide" }