{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340635", "communityStandardTitle": [ "NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22161[alleleid]", "alleleId": 22161, "preferredName": "NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7122", "RCV": [ "RCV000007542", "RCV000506601", "RCV000763575", "RCV000781237", "RCV001004260", "RCV001831525", "RCV003137499" ], "variationId": 7122 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-117227865-C-T", "id": "7-117227865-C-T", "variant": "7:117227865 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117227865C>T?assembly=hg19", "id": "chr7:g.117227865C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117587811C>T?assembly=hg38", "id": "chr7:g.117587811C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/74597325", "rs": 74597325 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117227865-C-T?dataset=gnomad_r2_1", "id": "7-117227865-C-T", "variant": "7:117227865 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117587811-C-T?dataset=gnomad_r3", "id": "7-117587811-C-T", "variant": "7:117587811 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117587811-C-T?dataset=gnomad_r4", "id": "7-117587811-C-T", "variant": "7:117587811 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 117587811, "referenceAllele": "C", "start": 117587810 } ], "hgvs": [ "NC_000007.14:g.117587811C>T", "CM000669.2:g.117587811C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 117227865, "referenceAllele": "C", "start": 117227864 } ], "hgvs": [ "NC_000007.13:g.117227865C>T", "CM000669.1:g.117227865C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 117015101, "referenceAllele": "C", "start": 117015100 } ], "hgvs": [ "NC_000007.12:g.117015101C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 127028, "referenceAllele": "C", "start": 127027 } ], "hgvs": [ "NG_016465.4:g.127028C>T", "LRG_663:g.127028C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003205" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647720.2:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000497673.2:p.Arg553Ter", "hgvsWellDefined": "ENSP00000497673.2:p.Arg553_His1196delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906457" }, { "coordinates": [ { "allele": "T", "end": 1632, "referenceAllele": "C", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.2:c.*1371C>T" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*1371C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906459" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.2:c.1474C>T" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Arg492Ter", "hgvsWellDefined": "ENSP00000497203.1:p.Arg492_Leu1419delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906473" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000685018.2:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000510194.2:p.Arg553Ter", "hgvsWellDefined": "ENSP00000510194.2:p.Arg553_Ala1300delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906564" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000687278.2:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000509593.2:p.Arg553Ter", "hgvsWellDefined": "ENSP00000509593.2:p.Arg553_Ser1180delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906570" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699585.1:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000514456.1:p.Arg553Ter", "hgvsWellDefined": "ENSP00000514456.1:p.Arg553_His1196delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910468" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699598.1:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000514467.1:p.Arg553Ter", "hgvsWellDefined": "ENSP00000514467.1:p.Arg553_Cys1428delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuLysArgThrLysCysGlySerThrIleProSerArgAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910478" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699599.1:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000514468.1:p.Arg553Ter", "hgvsWellDefined": "ENSP00000514468.1:p.Arg553_Ala1300delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910479" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699600.1:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000514469.1:p.Arg553Ter", "hgvsWellDefined": "ENSP00000514469.1:p.Arg553_Ser1180delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910480" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699601.1:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000514470.1:p.Arg553Ter", "hgvsWellDefined": "ENSP00000514470.1:p.Arg553_Cys564delinsAlaArgIleSerLeuAlaSerIleGlnArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910481" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699602.1:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000514471.1:p.Arg553Ter", "hgvsWellDefined": "ENSP00000514471.1:p.Arg553_Leu1478delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910482" }, { "coordinates": [ { "allele": "T", "end": 1739, "referenceAllele": "C", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699604.1:c.*1481C>T" ], "proteinEffect": { "hgvs": "ENSP00000514472.1:n.*1481C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910484" }, { "coordinates": [ { "allele": "T", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699605.1:c.1231C>T" ], "proteinEffect": { "hgvs": "ENSP00000514473.1:p.Arg411Ter", "hgvsWellDefined": "ENSP00000514473.1:p.Arg411_Leu1338delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910485" }, { "coordinates": [ { "allele": "T", "end": 1727, "referenceAllele": "C", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.11:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Arg553Ter", "hgvsWellDefined": "ENSP00000003084.6:p.Arg553_Leu1480delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS739921", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.1657C>T" }, "RefSeq": { "hgvs": "NM_000492.4:c.1657C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Arg553Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Arg553Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1632, "referenceAllele": "C", "start": 1631 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.1:c.*1371C>T" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*1371C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769718" }, { "coordinates": [ { "allele": "T", "end": 1485, "endIntronDirection": "-", "endIntronOffset": 15014, "referenceAllele": "C", "start": 1485, "startIntronDirection": "-", "startIntronOffset": 15015 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000648260.1:c.1402-15015C>T" ], "proteinEffect": { "hgvs": "ENSP00000497957.1:n.1402-15015C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769868" }, { "coordinates": [ { "allele": "T", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649406.1:c.1474C>T" ], "proteinEffect": { "hgvs": "ENSP00000497965.1:p.Arg492Ter", "hgvsWellDefined": "ENSP00000497965.1:p.Arg492_Cys1187delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770520" }, { "coordinates": [ { "allele": "T", "end": 1474, "referenceAllele": "C", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.1:c.1474C>T" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Arg492Ter", "hgvsWellDefined": "ENSP00000497203.1:p.Arg492_Leu1419delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770746" }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.10:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Arg553Ter", "hgvsWellDefined": "ENSP00000003084.6:p.Arg553_Leu1480delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247433" }, { "coordinates": [ { "allele": "T", "end": 1567, "referenceAllele": "C", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000426809.5:c.1567C>T" ], "proteinEffect": { "hgvs": "ENSP00000389119.1:p.Arg523Ter", "hgvsWellDefined": "ENSP00000389119.1:p.Arg523Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289393" }, { "@id": "http://reg.genome.network/allele/PA340636", "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.3:c.1657C>T", "LRG_663t1:c.1657C>T" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Arg553Ter", "hgvsWellDefined": "NP_000483.3:p.Arg553_Leu1480delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006546" }, { "coordinates": [ { "allele": "T", "end": 1775, "referenceAllele": "C", "start": 1774 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515751.1:c.1747C>T" ], "proteinEffect": { "hgvs": "XP_011514053.1:p.Arg583Ter", "hgvsWellDefined": "XP_011514053.1:p.Arg583_Leu1510delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082962" }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515752.1:c.1747C>T" ], "proteinEffect": { "hgvs": "XP_011514054.1:p.Arg583Ter", "hgvsWellDefined": "XP_011514054.1:p.Arg583_Tyr1449delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082963" }, { "coordinates": [ { "allele": "T", "end": 1879, "referenceAllele": "C", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515753.1:c.1414C>T" ], "proteinEffect": { "hgvs": "XP_011514055.1:p.Arg472Ter", "hgvsWellDefined": "XP_011514055.1:p.Arg472_Leu1399delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082964" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "C", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515754.1:c.1414C>T" ], "proteinEffect": { "hgvs": "XP_011514056.1:p.Arg472Ter", "hgvsWellDefined": "XP_011514056.1:p.Arg472_Leu1399delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082965" }, { "@id": "http://reg.genome.network/allele/PA340636", "coordinates": [ { "allele": "T", "end": 1727, "referenceAllele": "C", "start": 1726 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.4:c.1657C>T" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Arg553Ter", "hgvsWellDefined": "NP_000483.3:p.Arg553_Leu1480delinsAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674867", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.1657C>T" }, "RefSeq": { "hgvs": "NM_000492.4:c.1657C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Arg553Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Arg553Ter" } } } } ], "type": "nucleotide" }