{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5923240", "communityStandardTitle": [ "NM_213599.3(ANO5):c.1406G>A (p.Trp469Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274247[alleleid]", "alleleId": 274247, "preferredName": "NM_213599.3(ANO5):c.1406G>A (p.Trp469Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290010", "RCV": [ "RCV000384851" ], "variationId": 290010 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-22279299-G-A", "id": "11-22279299-G-A", "variant": "11:22279299 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.22279299G>A?assembly=hg19", "id": "chr11:g.22279299G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.22257753G>A?assembly=hg38", "id": "chr11:g.22257753G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/765427574", "rs": 765427574 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-22279299-G-A?dataset=gnomad_r2_1", "id": "11-22279299-G-A", "variant": "11:22279299 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-22257753-G-A?dataset=gnomad_r4", "id": "11-22257753-G-A", "variant": "11:22257753 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 22257753, "referenceAllele": "G", "start": 22257752 } ], "hgvs": [ "NC_000011.10:g.22257753G>A", "CM000673.2:g.22257753G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 22279299, "referenceAllele": "G", "start": 22279298 } ], "hgvs": [ "NC_000011.9:g.22279299G>A", "CM000673.1:g.22279299G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 22235875, "referenceAllele": "G", "start": 22235874 } ], "hgvs": [ "NC_000011.8:g.22235875G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 69578, "referenceAllele": "G", "start": 69577 } ], "hgvs": [ "NG_015844.1:g.69578G>A", "LRG_868:g.69578G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002875" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1655, "referenceAllele": "G", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000682266.1:c.956G>A" ], "proteinEffect": { "hgvs": "ENSP00000507766.1:p.Trp319Ter", "hgvsWellDefined": "ENSP00000507766.1:p.Trp319_Leu763delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827261" }, { "coordinates": [ { "allele": "A", "end": 1824, "referenceAllele": "G", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000682341.1:c.1364G>A" ], "proteinEffect": { "hgvs": "ENSP00000508251.1:p.Trp455Ter", "hgvsWellDefined": "ENSP00000508251.1:p.Trp455_Leu899delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827333" }, { "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "G", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683197.1:c.1364G>A" ], "proteinEffect": { "hgvs": "ENSP00000507641.1:p.Trp455Ter", "hgvsWellDefined": "ENSP00000507641.1:p.Trp455_Phe795delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysSerMetLeuCysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828179" }, { "coordinates": [ { "allele": "A", "end": 1798, "referenceAllele": "G", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683411.1:c.956G>A" ], "proteinEffect": { "hgvs": "ENSP00000508397.1:p.Trp319Ter", "hgvsWellDefined": "ENSP00000508397.1:p.Trp319_Leu763delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828388" }, { "coordinates": [ { "allele": "A", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683437.1:c.956G>A" ], "proteinEffect": { "hgvs": "ENSP00000508408.1:p.Trp319Ter", "hgvsWellDefined": "ENSP00000508408.1:p.Trp319_Leu763delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828414" }, { "coordinates": [ { "allele": "A", "end": 2400, "referenceAllele": "G", "start": 2399 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683613.1:n.2400G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828585" }, { "coordinates": [ { "allele": "A", "end": 1809, "referenceAllele": "G", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000684663.1:c.1361G>A" ], "proteinEffect": { "hgvs": "ENSP00000508009.1:p.Trp454Ter", "hgvsWellDefined": "ENSP00000508009.1:p.Trp454_Leu898delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829614" }, { "coordinates": [ { "allele": "A", "end": 1814, "referenceAllele": "G", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000324559.9:c.1406G>A" ], "proteinEffect": { "hgvs": "ENSP00000315371.9:p.Trp469Ter", "hgvsWellDefined": "ENSP00000315371.9:p.Trp469_Leu913delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746641", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324559.9:c.1406G>A" }, "RefSeq": { "hgvs": "NM_213599.3:c.1406G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315371.9:p.Trp469Ter" }, "RefSeq": { "hgvs": "NP_998764.1:p.Trp469Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1741, "referenceAllele": "G", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000648804.1:n.1741G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS770185" }, { "coordinates": [ { "allele": "A", "end": 1723, "referenceAllele": "G", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000324559.8:c.1406G>A" ], "proteinEffect": { "hgvs": "ENSP00000315371.8:p.Trp469Ter", "hgvsWellDefined": "ENSP00000315371.8:p.Trp469_Leu913delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258364" }, { "@id": "http://reg.genome.network/allele/PA2825809407", "coordinates": [ { "allele": "A", "end": 1720, "referenceAllele": "G", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "NM_001142649.1:c.1403G>A" ], "proteinEffect": { "hgvs": "NP_001136121.1:p.Trp468Ter", "hgvsWellDefined": "NP_001136121.1:p.Trp468_Leu912delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013025" }, { "@id": "http://reg.genome.network/allele/PA645510137", "coordinates": [ { "allele": "A", "end": 1723, "referenceAllele": "G", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "NM_213599.2:c.1406G>A", "LRG_868t1:c.1406G>A" ], "proteinEffect": { "hgvs": "NP_998764.1:p.Trp469Ter", "hgvsWellDefined": "NP_998764.1:p.Trp469_Leu913delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045593" }, { "coordinates": [ { "allele": "A", "end": 1847, "referenceAllele": "G", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252820.2:c.1364G>A" ], "proteinEffect": { "hgvs": "XP_005252877.2:p.Trp455Ter", "hgvsWellDefined": "XP_005252877.2:p.Trp455_Leu899delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060067" }, { "coordinates": [ { "allele": "A", "end": 1844, "referenceAllele": "G", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252821.2:c.1361G>A" ], "proteinEffect": { "hgvs": "XP_005252878.2:p.Trp454Ter", "hgvsWellDefined": "XP_005252878.2:p.Trp454_Leu898delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060068" }, { "coordinates": [ { "allele": "A", "end": 1580, "referenceAllele": "G", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252822.3:c.1328G>A" ], "proteinEffect": { "hgvs": "XP_005252879.1:p.Trp443Ter", "hgvsWellDefined": "XP_005252879.1:p.Trp443_Leu887delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060069" }, { "coordinates": [ { "allele": "A", "end": 1577, "referenceAllele": "G", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252823.3:c.1325G>A" ], "proteinEffect": { "hgvs": "XP_005252880.1:p.Trp442Ter", "hgvsWellDefined": "XP_005252880.1:p.Trp442_Leu886delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060070" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "G", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_011519949.1:c.1313G>A" ], "proteinEffect": { "hgvs": "XP_011518251.1:p.Trp438Ter", "hgvsWellDefined": "XP_011518251.1:p.Trp438_Leu882delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087119" }, { "coordinates": [ { "allele": "A", "end": 1827, "referenceAllele": "G", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252820.3:c.1364G>A" ], "proteinEffect": { "hgvs": "XP_005252877.2:p.Trp455Ter", "hgvsWellDefined": "XP_005252877.2:p.Trp455_Leu899delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533860" }, { "coordinates": [ { "allele": "A", "end": 1824, "referenceAllele": "G", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252821.3:c.1361G>A" ], "proteinEffect": { "hgvs": "XP_005252878.2:p.Trp454Ter", "hgvsWellDefined": "XP_005252878.2:p.Trp454_Leu898delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533861" }, { "coordinates": [ { "allele": "A", "end": 1608, "referenceAllele": "G", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252822.4:c.1328G>A" ], "proteinEffect": { "hgvs": "XP_005252879.1:p.Trp443Ter", "hgvsWellDefined": "XP_005252879.1:p.Trp443_Leu887delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533862" }, { "coordinates": [ { "allele": "A", "end": 1776, "referenceAllele": "G", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_011519949.2:c.1313G>A" ], "proteinEffect": { "hgvs": "XP_011518251.1:p.Trp438Ter", "hgvsWellDefined": "XP_011518251.1:p.Trp438_Leu882delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545537" }, { "@id": "http://reg.genome.network/allele/PA2825809407", "coordinates": [ { "allele": "A", "end": 1811, "referenceAllele": "G", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "NM_001142649.2:c.1403G>A" ], "proteinEffect": { "hgvs": "NP_001136121.1:p.Trp468Ter", "hgvsWellDefined": "NP_001136121.1:p.Trp468_Leu912delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677601" }, { "@id": "http://reg.genome.network/allele/PA645510137", "coordinates": [ { "allele": "A", "end": 1814, "referenceAllele": "G", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "NM_213599.3:c.1406G>A" ], "proteinEffect": { "hgvs": "NP_998764.1:p.Trp469Ter", "hgvsWellDefined": "NP_998764.1:p.Trp469_Leu913delinsMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701806", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324559.9:c.1406G>A" }, "RefSeq": { "hgvs": "NM_213599.3:c.1406G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315371.9:p.Trp469Ter" }, "RefSeq": { "hgvs": "NP_998764.1:p.Trp469Ter" } } } } ], "type": "nucleotide" }