{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5923181", "communityStandardTitle": [ "NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269979[alleleid]", "alleleId": 269979, "preferredName": "NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285742", "RCV": [ "RCV000366049", "RCV000664066", "RCV000691930", "RCV003157505" ], "variationId": 285742 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-22276949-C-T", "id": "11-22276949-C-T", "variant": "11:22276949 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.22276949C>T?assembly=hg19", "id": "chr11:g.22276949C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.22255403C>T?assembly=hg38", "id": "chr11:g.22255403C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/368970223", "rs": 368970223 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-22276949-C-T?dataset=gnomad_r2_1", "id": "11-22276949-C-T", "variant": "11:22276949 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-22255403-C-T?dataset=gnomad_r3", "id": "11-22255403-C-T", "variant": "11:22255403 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-22255403-C-T?dataset=gnomad_r4", "id": "11-22255403-C-T", "variant": "11:22255403 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 22255403, "referenceAllele": "C", "start": 22255402 } ], "hgvs": [ "NC_000011.10:g.22255403C>T", "CM000673.2:g.22255403C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 22276949, "referenceAllele": "C", "start": 22276948 } ], "hgvs": 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"end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000682266.1:c.763C>T" ], "proteinEffect": { "hgvs": "ENSP00000507766.1:p.Gln255Ter", "hgvsWellDefined": "ENSP00000507766.1:p.Gln255_Leu763delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827261" }, { "coordinates": [ { "allele": "T", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000682341.1:c.1171C>T" ], "proteinEffect": { "hgvs": "ENSP00000508251.1:p.Gln391Ter", "hgvsWellDefined": "ENSP00000508251.1:p.Gln391_Leu899delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827333" }, { "coordinates": [ { "allele": "T", "end": 1692, "referenceAllele": "C", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000682530.1:c.*1145C>T" ], "proteinEffect": { "hgvs": "ENSP00000506805.1:n.*1145C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827520" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683197.1:c.1171C>T" ], "proteinEffect": { "hgvs": "ENSP00000507641.1:p.Gln391Ter", "hgvsWellDefined": "ENSP00000507641.1:p.Gln391_Phe795delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysSerMetLeuCysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828179" }, { "coordinates": [ { "allele": "T", "end": 1605, "referenceAllele": "C", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683411.1:c.763C>T" ], "proteinEffect": { "hgvs": "ENSP00000508397.1:p.Gln255Ter", "hgvsWellDefined": "ENSP00000508397.1:p.Gln255_Leu763delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828388" }, { "coordinates": [ { "allele": "T", "end": 1435, "referenceAllele": "C", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683437.1:c.763C>T" ], "proteinEffect": { "hgvs": "ENSP00000508408.1:p.Gln255Ter", "hgvsWellDefined": "ENSP00000508408.1:p.Gln255_Leu763delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828414" }, { "coordinates": [ { "allele": "T", "end": 2207, "referenceAllele": "C", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683613.1:n.2207C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828585" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "C", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000683834.1:n.1413C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828802" }, { "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000684663.1:c.1168C>T" ], "proteinEffect": { "hgvs": "ENSP00000508009.1:p.Gln390Ter", "hgvsWellDefined": "ENSP00000508009.1:p.Gln390_Leu898delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829614" }, { "coordinates": [ { "allele": "T", "end": 1621, "referenceAllele": "C", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000324559.9:c.1213C>T" ], "proteinEffect": { "hgvs": "ENSP00000315371.9:p.Gln405Ter", "hgvsWellDefined": "ENSP00000315371.9:p.Gln405_Leu913delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746641", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324559.9:c.1213C>T" }, "RefSeq": { "hgvs": "NM_213599.3:c.1213C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315371.9:p.Gln405Ter" }, "RefSeq": { "hgvs": "NP_998764.1:p.Gln405Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000648804.1:n.1548C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770185" }, { "coordinates": [ { "allele": "T", "end": 1530, "referenceAllele": "C", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "ENST00000324559.8:c.1213C>T" ], "proteinEffect": { "hgvs": "ENSP00000315371.8:p.Gln405Ter", "hgvsWellDefined": "ENSP00000315371.8:p.Gln405_Leu913delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258364" }, { "@id": "http://reg.genome.network/allele/PA2825809323", "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "NM_001142649.1:c.1210C>T" ], "proteinEffect": { "hgvs": "NP_001136121.1:p.Gln404Ter", "hgvsWellDefined": "NP_001136121.1:p.Gln404_Leu912delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013025" }, { "@id": "http://reg.genome.network/allele/PA645462306", "coordinates": [ { "allele": "T", "end": 1530, "referenceAllele": "C", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "NM_213599.2:c.1213C>T", "LRG_868t1:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_998764.1:p.Gln405Ter", "hgvsWellDefined": "NP_998764.1:p.Gln405_Leu913delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045593" }, { "coordinates": [ { "allele": "T", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252820.2:c.1171C>T" ], "proteinEffect": { "hgvs": "XP_005252877.2:p.Gln391Ter", "hgvsWellDefined": "XP_005252877.2:p.Gln391_Leu899delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060067" }, { "coordinates": [ { "allele": "T", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252821.2:c.1168C>T" ], "proteinEffect": { "hgvs": "XP_005252878.2:p.Gln390Ter", "hgvsWellDefined": "XP_005252878.2:p.Gln390_Leu898delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060068" }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252822.3:c.1135C>T" ], "proteinEffect": { "hgvs": "XP_005252879.1:p.Gln379Ter", "hgvsWellDefined": "XP_005252879.1:p.Gln379_Leu887delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060069" }, { "coordinates": [ { "allele": "T", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252823.3:c.1132C>T" ], "proteinEffect": { "hgvs": "XP_005252880.1:p.Gln378Ter", "hgvsWellDefined": "XP_005252880.1:p.Gln378_Leu886delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060070" }, { "coordinates": [ { "allele": "T", "end": 1603, "referenceAllele": "C", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_011519949.1:c.1120C>T" ], "proteinEffect": { "hgvs": "XP_011518251.1:p.Gln374Ter", "hgvsWellDefined": "XP_011518251.1:p.Gln374_Leu882delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087119" }, { "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252820.3:c.1171C>T" ], "proteinEffect": { "hgvs": "XP_005252877.2:p.Gln391Ter", "hgvsWellDefined": "XP_005252877.2:p.Gln391_Leu899delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533860" }, { "coordinates": [ { "allele": "T", "end": 1631, "referenceAllele": "C", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252821.3:c.1168C>T" ], "proteinEffect": { "hgvs": "XP_005252878.2:p.Gln390Ter", "hgvsWellDefined": "XP_005252878.2:p.Gln390_Leu898delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533861" }, { "coordinates": [ { "allele": "T", "end": 1415, "referenceAllele": "C", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_005252822.4:c.1135C>T" ], "proteinEffect": { "hgvs": "XP_005252879.1:p.Gln379Ter", "hgvsWellDefined": "XP_005252879.1:p.Gln379_Leu887delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533862" }, { "coordinates": [ { "allele": "T", "end": 1583, "referenceAllele": "C", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "XM_011519949.2:c.1120C>T" ], "proteinEffect": { "hgvs": "XP_011518251.1:p.Gln374Ter", "hgvsWellDefined": "XP_011518251.1:p.Gln374_Leu882delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545537" }, { "@id": "http://reg.genome.network/allele/PA2825809323", "coordinates": [ { "allele": "T", "end": 1618, "referenceAllele": "C", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "NM_001142649.2:c.1210C>T" ], "proteinEffect": { "hgvs": "NP_001136121.1:p.Gln404Ter", "hgvsWellDefined": "NP_001136121.1:p.Gln404_Leu912delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677601" }, { "@id": "http://reg.genome.network/allele/PA645462306", "coordinates": [ { "allele": "T", "end": 1621, "referenceAllele": "C", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN027337", "geneNCBI_id": 203859, "geneSymbol": "ANO5", "hgvs": [ "NM_213599.3:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_998764.1:p.Gln405Ter", "hgvsWellDefined": "NP_998764.1:p.Gln405_Leu913delinsAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701806", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324559.9:c.1213C>T" }, "RefSeq": { "hgvs": "NM_213599.3:c.1213C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315371.9:p.Gln405Ter" }, "RefSeq": { "hgvs": "NP_998764.1:p.Gln405Ter" } } } } ], "type": "nucleotide" }