{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA913203341", "communityStandardTitle": [ "NM_000492.4(CFTR):c.[1397C>G;3209G>A] (p.Ser466Ter)" ], "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 117559468, "referenceAllele": "C", "start": 117559467 }, { "allele": "A", "end": 117611650, "referenceAllele": "G", "start": 117611649 } ], "hgvs": [ "NC_000007.14:g.[117559468C>G;117611650G>A]", "CM000669.2:g.[117559468C>G;117611650G>A]" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 117199522, "referenceAllele": "C", "start": 117199521 }, { "allele": "A", "end": 117251704, "referenceAllele": "G", "start": 117251703 } ], "hgvs": [ "NC_000007.13:g.[117199522C>G;117251704G>A]", "CM000669.1:g.[117199522C>G;117251704G>A]" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 116986758, "referenceAllele": "C", "start": 116986757 }, { "allele": "A", "end": 117038940, "referenceAllele": "G", "start": 117038939 } ], "hgvs": [ "NC_000007.12:g.[116986758C>G;117038940G>A]" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "G", "end": 98685, "referenceAllele": "C", "start": 98684 }, { "allele": "A", "end": 150867, "referenceAllele": "G", "start": 150866 } ], "hgvs": [ "NG_016465.4:g.[98685C>G;150867G>A]", "LRG_663:g.[98685C>G;150867G>A]" ], "referenceSequence": "http://reg.genome.network/refseq/RS003205" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3316, "referenceAllele": "G", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647720.2:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000497673.2:p.Ser466Ter", "hgvsWellDefined": "ENSP00000497673.2:p.Ser466_His1196delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906457" }, { "coordinates": [ { "allele": "G", "end": 1372, "referenceAllele": "C", "start": 1371 }, { "allele": "A", "end": 3184, "referenceAllele": "G", "start": 3183 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.2:c.[*1111C>G;*2923G>A]" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.[*1111C>G;*2923G>A]" }, "referenceSequence": "http://reg.genome.network/refseq/RS906459" }, { "coordinates": [ { "allele": "G", "end": 1298, "referenceAllele": "C", "start": 1297 }, { "allele": "A", "end": 3110, "referenceAllele": "G", "start": 3109 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.2:c.[1214C>G;3026G>A]" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Ser405Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS906473" }, { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3316, "referenceAllele": "G", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000685018.2:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000510194.2:p.Ser466Ter", "hgvsWellDefined": "ENSP00000510194.2:p.Ser466_Ala1300delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906564" }, { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3316, "referenceAllele": "G", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000687278.2:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000509593.2:p.Ser466Ter", "hgvsWellDefined": "ENSP00000509593.2:p.Ser466_Ser1180delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906570" }, { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3316, "referenceAllele": "G", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699585.1:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000514456.1:p.Ser466Ter", "hgvsWellDefined": "ENSP00000514456.1:p.Ser466_His1196delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910468" }, { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3316, "referenceAllele": "G", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699598.1:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000514467.1:p.Ser466Ter", "hgvsWellDefined": "ENSP00000514467.1:p.Ser466_Cys1428delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuLysArgThrLysCysGlySerThrIleProSerArgAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910478" }, { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3316, "referenceAllele": "G", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699599.1:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000514468.1:p.Ser466Ter", "hgvsWellDefined": "ENSP00000514468.1:p.Ser466_Ala1300delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910479" }, { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3316, "referenceAllele": "G", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699600.1:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000514469.1:p.Ser466Ter", "hgvsWellDefined": "ENSP00000514469.1:p.Ser466_Ser1180delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910480" }, { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3311, "referenceAllele": "G", "start": 3310 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699601.1:c.[1397C>G;*1509G>A]" ], "proteinEffect": { "hgvs": "ENSP00000514470.1:p.Ser466Ter", "hgvsWellDefined": "ENSP00000514470.1:p.Ser466_Cys564delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaSerIleGlnArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910481" }, { "coordinates": [ { "allele": "G", "end": 1504, "referenceAllele": "C", "start": 1503 }, { "allele": "A", "end": 3316, "referenceAllele": "G", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699602.1:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000514471.1:p.Ser466Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910482" }, { "coordinates": [ { "allele": "G", "end": 1479, "referenceAllele": "C", "start": 1478 }, { "allele": "A", "end": 3291, "referenceAllele": "G", "start": 3290 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699604.1:c.[*1221C>G;*3033G>A]" ], "proteinEffect": { "hgvs": "ENSP00000514472.1:n.[*1221C>G;*3033G>A]" }, "referenceSequence": "http://reg.genome.network/refseq/RS910484" }, { "coordinates": [ { "allele": "G", "end": 1393, "referenceAllele": "C", "start": 1392 }, { "allele": "A", "end": 3205, "referenceAllele": "G", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699605.1:c.[971C>G;2783G>A]" ], "proteinEffect": { "hgvs": "ENSP00000514473.1:p.Ser324Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910485" }, { "coordinates": [ { "allele": "G", "end": 1467, "referenceAllele": "C", "start": 1466 }, { "allele": "A", "end": 3279, "referenceAllele": "G", "start": 3278 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.11:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Ser466Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS739921", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.[1397C>G;3209G>A]" }, "RefSeq": { "hgvs": "NM_000492.4:c.[1397C>G;3209G>A]" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Ser466Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Ser466Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1298, "referenceAllele": "C", "start": 1297 }, { "allele": "A", "end": 2075, "referenceAllele": "G", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000648260.1:c.[1214C>G;1991G>A]" ], "proteinEffect": { "hgvs": "ENSP00000497957.1:p.Ser405Ter", "hgvsWellDefined": "ENSP00000497957.1:p.Ser405_Cys842delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769868" }, { "coordinates": [ { "allele": "G", "end": 1298, "referenceAllele": "C", "start": 1297 }, { "allele": "A", "end": 3110, "referenceAllele": "G", "start": 3109 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649406.1:c.[1214C>G;3026G>A]" ], "proteinEffect": { "hgvs": "ENSP00000497965.1:p.Ser405Ter", "hgvsWellDefined": "ENSP00000497965.1:p.Ser405_Cys1187delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770520" }, { "coordinates": [ { "allele": "G", "end": 1214, "referenceAllele": "C", "start": 1213 }, { "allele": "A", "end": 3026, "referenceAllele": "G", "start": 3025 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.1:c.[1214C>G;3026G>A]" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Ser405Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS770746" }, { "coordinates": [ { "allele": "G", "end": 1529, "referenceAllele": "C", "start": 1528 }, { "allele": "A", "end": 3341, "referenceAllele": "G", "start": 3340 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.10:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Ser466Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247433" }, { "coordinates": [ { "allele": "G", "end": 1307, "referenceAllele": "C", "start": 1306 }, { "allele": "A", "end": 3119, "referenceAllele": "G", "start": 3118 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000426809.5:c.[1307C>G;3119G>A]" ], "proteinEffect": { "hgvs": "ENSP00000389119.1:p.Ser436Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289393" }, { "coordinates": [ { "allele": "G", "end": 1529, "referenceAllele": "C", "start": 1528 }, { "allele": "A", "end": 3341, "referenceAllele": "G", "start": 3340 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.3:c.[1397C>G;3209G>A]", "LRG_663t1:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Ser466Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006546" }, { "coordinates": [ { "allele": "G", "end": 1515, "referenceAllele": "C", "start": 1514 }, { "allele": "A", "end": 3327, "referenceAllele": "G", "start": 3326 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515751.1:c.[1487C>G;3299G>A]" ], "proteinEffect": { "hgvs": "XP_011514053.1:p.Ser496Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS082962" }, { "coordinates": [ { "allele": "G", "end": 1529, "referenceAllele": "C", "start": 1528 }, { "allele": "A", "end": 3341, "referenceAllele": "G", "start": 3340 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515752.1:c.[1487C>G;3299G>A]" ], "proteinEffect": { "hgvs": "XP_011514054.1:p.Ser496Ter", "hgvsWellDefined": "XP_011514054.1:p.Ser496_Tyr1449delinsLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082963" }, { "coordinates": [ { "allele": "G", "end": 1619, "referenceAllele": "C", "start": 1618 }, { "allele": "A", "end": 3431, "referenceAllele": "G", "start": 3430 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515753.1:c.[1154C>G;2966G>A]" ], "proteinEffect": { "hgvs": "XP_011514055.1:p.Ser385Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS082964" }, { "coordinates": [ { "allele": "G", "end": 2537, "referenceAllele": "C", "start": 2536 }, { "allele": "A", "end": 4349, "referenceAllele": "G", "start": 4348 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515754.1:c.[1154C>G;2966G>A]" ], "proteinEffect": { "hgvs": "XP_011514056.1:p.Ser385Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS082965" }, { "coordinates": [ { "allele": "G", "end": 1467, "referenceAllele": "C", "start": 1466 }, { "allele": "A", "end": 3279, "referenceAllele": "G", "start": 3278 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.4:c.[1397C>G;3209G>A]" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Ser466Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674867", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.[1397C>G;3209G>A]" }, "RefSeq": { "hgvs": "NM_000492.4:c.[1397C>G;3209G>A]" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Ser466Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Ser466Ter" } } } } ], "type": "nucleotide" }