{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA326730", "communityStandardTitle": [ "NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=68095[alleleid]", "alleleId": 68095, "preferredName": "NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53427", "RCV": [ "RCV000046523", "RCV001831743", "RCV002483054", "RCV003473473" ], "variationId": 53427 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-117232238-G-T", "id": "7-117232238-G-T", "variant": "7:117232238 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117232238G>T?assembly=hg19", "id": "chr7:g.117232238G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117592184G>T?assembly=hg38", "id": "chr7:g.117592184G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397508331", "rs": 397508331 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117232238-G-T?dataset=gnomad_r2_1", "id": "7-117232238-G-T", "variant": "7:117232238 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117592184-G-T?dataset=gnomad_r4", "id": "7-117592184-G-T", "variant": "7:117592184 G / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 117592184, "referenceAllele": "G", "start": 117592183 } ], "hgvs": [ "NC_000007.14:g.117592184G>T", "CM000669.2:g.117592184G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 117232238, "referenceAllele": "G", "start": 117232237 } ], "hgvs": [ "NC_000007.13:g.117232238G>T", "CM000669.1:g.117232238G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 117019474, "referenceAllele": "G", "start": 117019473 } ], "hgvs": [ "NC_000007.12:g.117019474G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 131401, "referenceAllele": "G", "start": 131400 } ], "hgvs": [ "NG_016465.4:g.131401G>T", "LRG_663:g.131401G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003205" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647720.2:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000497673.2:p.Gly673Ter", "hgvsWellDefined": "ENSP00000497673.2:p.Gly673_His1196delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906457" }, { "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "G", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.2:c.*1731G>T" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*1731G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906459" }, { "coordinates": [ { "allele": "T", "end": 1918, "referenceAllele": "G", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.2:c.1834G>T" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Gly612Ter", "hgvsWellDefined": "ENSP00000497203.1:p.Gly612_Leu1419delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906473" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000685018.2:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000510194.2:p.Gly673Ter", "hgvsWellDefined": "ENSP00000510194.2:p.Gly673_Ala1300delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906564" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000687278.2:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000509593.2:p.Gly673Ter", "hgvsWellDefined": "ENSP00000509593.2:p.Gly673_Ser1180delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906570" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699585.1:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000514456.1:p.Gly673Ter", "hgvsWellDefined": "ENSP00000514456.1:p.Gly673_His1196delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910468" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699598.1:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000514467.1:p.Gly673Ter", "hgvsWellDefined": "ENSP00000514467.1:p.Gly673_Cys1428delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuLysArgThrLysCysGlySerThrIleProSerArgAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910478" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699599.1:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000514468.1:p.Gly673Ter", "hgvsWellDefined": "ENSP00000514468.1:p.Gly673_Ala1300delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910479" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699600.1:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000514469.1:p.Gly673Ter", "hgvsWellDefined": "ENSP00000514469.1:p.Gly673_Ser1180delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910480" }, { "coordinates": [ { "allele": "T", "end": 2119, "referenceAllele": "G", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699601.1:c.*317G>T" ], "proteinEffect": { "hgvs": "ENSP00000514470.1:n.*317G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910481" }, { "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699602.1:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000514471.1:p.Gly673Ter", "hgvsWellDefined": "ENSP00000514471.1:p.Gly673_Leu1478delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910482" }, { "coordinates": [ { "allele": "T", "end": 2099, "referenceAllele": "G", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699604.1:c.*1841G>T" ], "proteinEffect": { "hgvs": "ENSP00000514472.1:n.*1841G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910484" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699605.1:c.1591G>T" ], "proteinEffect": { "hgvs": "ENSP00000514473.1:p.Gly531Ter", "hgvsWellDefined": "ENSP00000514473.1:p.Gly531_Leu1338delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910485" }, { "coordinates": [ { "allele": "T", "end": 2087, "referenceAllele": "G", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.11:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Gly673Ter", "hgvsWellDefined": "ENSP00000003084.6:p.Gly673_Leu1480delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS739921", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.2017G>T" }, "RefSeq": { "hgvs": "NM_000492.4:c.2017G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Gly673Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Gly673Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "G", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.1:c.*1731G>T" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*1731G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769718" }, { "coordinates": [ { "allele": "T", "end": 1485, "endIntronDirection": "-", "endIntronOffset": 10641, "referenceAllele": "G", "start": 1485, "startIntronDirection": "-", "startIntronOffset": 10642 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000648260.1:c.1402-10642G>T" ], "proteinEffect": { "hgvs": "ENSP00000497957.1:n.1402-10642G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769868" }, { "coordinates": [ { "allele": "T", "end": 1918, "referenceAllele": "G", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649406.1:c.1834G>T" ], "proteinEffect": { "hgvs": "ENSP00000497965.1:p.Gly612Ter", "hgvsWellDefined": "ENSP00000497965.1:p.Gly612_Cys1187delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770520" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "G", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.1:c.1834G>T" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Gly612Ter", "hgvsWellDefined": "ENSP00000497203.1:p.Gly612_Leu1419delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770746" }, { "coordinates": [ { "allele": "T", "end": 2149, "referenceAllele": "G", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.10:c.2017G>T" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Gly673Ter", "hgvsWellDefined": "ENSP00000003084.6:p.Gly673_Leu1480delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247433" }, { "coordinates": [ { "allele": "T", "end": 1927, "referenceAllele": "G", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000426809.5:c.1927G>T" ], "proteinEffect": { "hgvs": "ENSP00000389119.1:p.Gly643Ter", "hgvsWellDefined": "ENSP00000389119.1:p.Gly643Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289393" }, { "@id": "http://reg.genome.network/allele/PA326731", "coordinates": [ { "allele": "T", "end": 2149, "referenceAllele": "G", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.3:c.2017G>T", "LRG_663t1:c.2017G>T" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Gly673Ter", "hgvsWellDefined": "NP_000483.3:p.Gly673_Leu1480delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006546" }, { "coordinates": [ { "allele": "T", "end": 2135, "referenceAllele": "G", "start": 2134 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515751.1:c.2107G>T" ], "proteinEffect": { "hgvs": "XP_011514053.1:p.Gly703Ter", "hgvsWellDefined": "XP_011514053.1:p.Gly703_Leu1510delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082962" }, { "coordinates": [ { "allele": "T", "end": 2149, "referenceAllele": "G", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515752.1:c.2107G>T" ], "proteinEffect": { "hgvs": "XP_011514054.1:p.Gly703Ter", "hgvsWellDefined": "XP_011514054.1:p.Gly703_Tyr1449delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082963" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515753.1:c.1774G>T" ], "proteinEffect": { "hgvs": "XP_011514055.1:p.Gly592Ter", "hgvsWellDefined": "XP_011514055.1:p.Gly592_Leu1399delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082964" }, { "coordinates": [ { "allele": "T", "end": 3157, "referenceAllele": "G", "start": 3156 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515754.1:c.1774G>T" ], "proteinEffect": { "hgvs": "XP_011514056.1:p.Gly592Ter", "hgvsWellDefined": "XP_011514056.1:p.Gly592_Leu1399delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082965" }, { "@id": "http://reg.genome.network/allele/PA326731", "coordinates": [ { "allele": "T", "end": 2087, "referenceAllele": "G", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.4:c.2017G>T" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Gly673Ter", "hgvsWellDefined": "NP_000483.3:p.Gly673_Leu1480delinsAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674867", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.2017G>T" }, "RefSeq": { "hgvs": "NM_000492.4:c.2017G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Gly673Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Gly673Ter" } } } } ], "type": "nucleotide" }