{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA328095", "communityStandardTitle": [ "NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=68119[alleleid]", "alleleId": 68119, "preferredName": "NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53451", "RCV": [ "RCV000056360", "RCV001269766", "RCV001831744", "RCV003473477" ], "variationId": 53451 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-117232416-T-G", "id": "7-117232416-T-G", "variant": "7:117232416 T / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117232416T>G?assembly=hg19", "id": "chr7:g.117232416T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117592362T>G?assembly=hg38", "id": "chr7:g.117592362T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397508350", "rs": 397508350 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117232416-T-G?dataset=gnomad_r2_1", "id": "7-117232416-T-G", "variant": "7:117232416 T / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117592362-T-G?dataset=gnomad_r4", "id": "7-117592362-T-G", "variant": "7:117592362 T / G" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 117592362, "referenceAllele": "T", "start": 117592361 } ], "hgvs": [ "NC_000007.14:g.117592362T>G", "CM000669.2:g.117592362T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 117232416, "referenceAllele": "T", "start": 117232415 } ], "hgvs": [ "NC_000007.13:g.117232416T>G", "CM000669.1:g.117232416T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 117019652, "referenceAllele": "T", "start": 117019651 } ], "hgvs": [ "NC_000007.12:g.117019652T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "G", "end": 131579, "referenceAllele": "T", "start": 131578 } ], "hgvs": [ "NG_016465.4:g.131579T>G", "LRG_663:g.131579T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003205" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2302, "referenceAllele": "T", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647720.2:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000497673.2:p.Leu732Ter", "hgvsWellDefined": "ENSP00000497673.2:p.Leu732_His1196delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906457" }, { "coordinates": [ { "allele": "G", "end": 2170, "referenceAllele": "T", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.2:c.*1909T>G" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*1909T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS906459" }, { "coordinates": [ { "allele": "G", "end": 2096, "referenceAllele": "T", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.2:c.2012T>G" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Leu671Ter", "hgvsWellDefined": "ENSP00000497203.1:p.Leu671_Leu1419delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906473" }, { "coordinates": [ { "allele": "G", "end": 2302, "referenceAllele": "T", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000685018.2:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000510194.2:p.Leu732Ter", "hgvsWellDefined": "ENSP00000510194.2:p.Leu732_Ala1300delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906564" }, { "coordinates": [ { "allele": "G", "end": 2302, "referenceAllele": "T", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000687278.2:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000509593.2:p.Leu732Ter", "hgvsWellDefined": "ENSP00000509593.2:p.Leu732_Ser1180delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906570" }, { "coordinates": [ { "allele": "G", "end": 2302, "referenceAllele": "T", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699585.1:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000514456.1:p.Leu732Ter", "hgvsWellDefined": "ENSP00000514456.1:p.Leu732_His1196delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910468" }, { "coordinates": [ { "allele": "G", "end": 2302, "referenceAllele": "T", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699598.1:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000514467.1:p.Leu732Ter", "hgvsWellDefined": "ENSP00000514467.1:p.Leu732_Cys1428delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuLysArgThrLysCysGlySerThrIleProSerArgAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910478" }, { "coordinates": [ { "allele": "G", "end": 2302, "referenceAllele": "T", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699599.1:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000514468.1:p.Leu732Ter", "hgvsWellDefined": "ENSP00000514468.1:p.Leu732_Ala1300delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910479" }, { "coordinates": [ { "allele": "G", "end": 2302, "referenceAllele": "T", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699600.1:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000514469.1:p.Leu732Ter", "hgvsWellDefined": "ENSP00000514469.1:p.Leu732_Ser1180delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910480" }, { "coordinates": [ { "allele": "G", "end": 2297, "referenceAllele": "T", "start": 2296 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699601.1:c.*495T>G" ], "proteinEffect": { "hgvs": "ENSP00000514470.1:n.*495T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910481" }, { "coordinates": [ { "allele": "G", "end": 2302, "referenceAllele": "T", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699602.1:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000514471.1:p.Leu732Ter", "hgvsWellDefined": "ENSP00000514471.1:p.Leu732_Leu1478delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910482" }, { "coordinates": [ { "allele": "G", "end": 2277, "referenceAllele": "T", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699604.1:c.*2019T>G" ], "proteinEffect": { "hgvs": "ENSP00000514472.1:n.*2019T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910484" }, { "coordinates": [ { "allele": "G", "end": 2191, "referenceAllele": "T", "start": 2190 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699605.1:c.1769T>G" ], "proteinEffect": { "hgvs": "ENSP00000514473.1:p.Leu590Ter", "hgvsWellDefined": "ENSP00000514473.1:p.Leu590_Leu1338delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910485" }, { "coordinates": [ { "allele": "G", "end": 2265, "referenceAllele": "T", "start": 2264 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.11:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Leu732Ter", "hgvsWellDefined": "ENSP00000003084.6:p.Leu732_Leu1480delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS739921", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.2195T>G" }, "RefSeq": { "hgvs": "NM_000492.4:c.2195T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Leu732Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Leu732Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2170, "referenceAllele": "T", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.1:c.*1909T>G" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*1909T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS769718" }, { "coordinates": [ { "allele": "G", "end": 1485, "endIntronDirection": "-", "endIntronOffset": 10463, "referenceAllele": "T", "start": 1485, "startIntronDirection": "-", "startIntronOffset": 10464 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000648260.1:c.1402-10464T>G" ], "proteinEffect": { "hgvs": "ENSP00000497957.1:n.1402-10464T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS769868" }, { "coordinates": [ { "allele": "G", "end": 2096, "referenceAllele": "T", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649406.1:c.2012T>G" ], "proteinEffect": { "hgvs": "ENSP00000497965.1:p.Leu671Ter", "hgvsWellDefined": "ENSP00000497965.1:p.Leu671_Cys1187delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770520" }, { "coordinates": [ { "allele": "G", "end": 2012, "referenceAllele": "T", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.1:c.2012T>G" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Leu671Ter", "hgvsWellDefined": "ENSP00000497203.1:p.Leu671_Leu1419delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770746" }, { "coordinates": [ { "allele": "G", "end": 2327, "referenceAllele": "T", "start": 2326 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.10:c.2195T>G" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Leu732Ter", "hgvsWellDefined": "ENSP00000003084.6:p.Leu732_Leu1480delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247433" }, { "coordinates": [ { "allele": "G", "end": 2105, "referenceAllele": "T", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000426809.5:c.2105T>G" ], "proteinEffect": { "hgvs": "ENSP00000389119.1:p.Leu702Ter", "hgvsWellDefined": "ENSP00000389119.1:p.Leu702Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289393" }, { "@id": "http://reg.genome.network/allele/PA328096", "coordinates": [ { "allele": "G", "end": 2327, "referenceAllele": "T", "start": 2326 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.3:c.2195T>G", "LRG_663t1:c.2195T>G" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Leu732Ter", "hgvsWellDefined": "NP_000483.3:p.Leu732_Leu1480delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006546" }, { "coordinates": [ { "allele": "G", "end": 2313, "referenceAllele": "T", "start": 2312 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515751.1:c.2285T>G" ], "proteinEffect": { "hgvs": "XP_011514053.1:p.Leu762Ter", "hgvsWellDefined": "XP_011514053.1:p.Leu762_Leu1510delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082962" }, { "coordinates": [ { "allele": "G", "end": 2327, "referenceAllele": "T", "start": 2326 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515752.1:c.2285T>G" ], "proteinEffect": { "hgvs": "XP_011514054.1:p.Leu762Ter", "hgvsWellDefined": "XP_011514054.1:p.Leu762_Tyr1449delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082963" }, { "coordinates": [ { "allele": "G", "end": 2417, "referenceAllele": "T", "start": 2416 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515753.1:c.1952T>G" ], "proteinEffect": { "hgvs": "XP_011514055.1:p.Leu651Ter", "hgvsWellDefined": "XP_011514055.1:p.Leu651_Leu1399delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082964" }, { "coordinates": [ { "allele": "G", "end": 3335, "referenceAllele": "T", "start": 3334 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515754.1:c.1952T>G" ], "proteinEffect": { "hgvs": "XP_011514056.1:p.Leu651Ter", "hgvsWellDefined": "XP_011514056.1:p.Leu651_Leu1399delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082965" }, { "@id": "http://reg.genome.network/allele/PA328096", "coordinates": [ { "allele": "G", "end": 2265, "referenceAllele": "T", "start": 2264 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.4:c.2195T>G" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Leu732Ter", "hgvsWellDefined": "NP_000483.3:p.Leu732_Leu1480delinsGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674867", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.2195T>G" }, "RefSeq": { "hgvs": "NM_000492.4:c.2195T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Leu732Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Leu732Ter" } } } } ], "type": "nucleotide" }