{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388650197", "communityStandardTitle": [ "NM_052867.4(NALCN):c.3860G>A (p.Trp1287Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101733903C>T?assembly=hg19", "id": "chr13:g.101733903C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101081552C>T?assembly=hg38", "id": "chr13:g.101081552C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777068", "rs": 587777068 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101081552-C-T?dataset=gnomad_r4", "id": "13-101081552-C-T", "variant": "13:101081552 C / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 101081552, "referenceAllele": "C", "start": 101081551 } ], "hgvs": [ "NC_000013.11:g.101081552C>T", "CM000675.2:g.101081552C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 101733903, "referenceAllele": "C", "start": 101733902 } ], "hgvs": [ "NC_000013.10:g.101733903C>T", "CM000675.1:g.101733903C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 100531904, "referenceAllele": "C", "start": 100531903 } ], "hgvs": [ "NC_000013.9:g.100531904C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 340655, "referenceAllele": "G", "start": 340654 } ], "hgvs": [ "NG_053176.1:g.340655G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617456" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4095, "referenceAllele": "G", "start": 4094 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.11:c.3860G>A" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Trp1287Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Trp1287_Ile1738delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.3860G>A" }, "RefSeq": { "hgvs": "NM_052867.4:c.3860G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Trp1287Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Trp1287Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4061, "referenceAllele": "G", "start": 4060 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000648359.1:c.3860G>A" ], "proteinEffect": { "hgvs": "ENSP00000497465.1:p.Trp1287Ter", "hgvsWellDefined": "ENSP00000497465.1:p.Trp1287_Ser1522delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluThrPheArgArgProAlaGlyLysGlySerGlnArgAspSerValGlyIleSerLeuGlyLeuArgProGluLysGluValThrLeuLysLeuProLysGlyGlnTyrIleThrAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769931" }, { "coordinates": [ { "allele": "A", "end": 3679, "referenceAllele": "G", "start": 3678 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675150.1:c.3581G>A" ], "proteinEffect": { "hgvs": "ENSP00000502680.1:p.Trp1194Ter", "hgvsWellDefined": "ENSP00000502680.1:p.Trp1194_Ile1645delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775016" }, { "coordinates": [ { "allele": "A", "end": 4121, "referenceAllele": "G", "start": 4120 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675332.1:c.3947G>A" ], "proteinEffect": { "hgvs": "ENSP00000501955.1:p.Trp1316Ter", "hgvsWellDefined": "ENSP00000501955.1:p.Trp1316_Ile1767delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775165" }, { "coordinates": [ { "allele": "A", "end": 3974, "referenceAllele": "G", "start": 3973 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000676315.1:c.3773G>A" ], "proteinEffect": { "hgvs": "ENSP00000501603.1:p.Trp1258Ter", "hgvsWellDefined": "ENSP00000501603.1:p.Trp1258_Ile1709delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776012" }, { "coordinates": [ { "allele": "A", "end": 3942, "referenceAllele": "G", "start": 3941 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.10:c.3860G>A" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Trp1287Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Trp1287_Ile1738delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249711" }, { "@id": "http://reg.genome.network/allele/PA3080679284", "coordinates": [ { "allele": "A", "end": 4049, "referenceAllele": "G", "start": 4048 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.2:c.3860G>A" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Trp1287Ter", "hgvsWellDefined": "NP_443099.1:p.Trp1287_Ile1738delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039865" }, { "coordinates": [ { "allele": "A", "end": 3988, "referenceAllele": "G", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.1:c.3917G>A" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Trp1306Ter", "hgvsWellDefined": "XP_011519369.1:p.Trp1306_Ile1757delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088231" }, { "coordinates": [ { "allele": "A", "end": 3956, "referenceAllele": "G", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521068.1:c.3860G>A" ], "proteinEffect": { "hgvs": "XP_011519370.1:p.Trp1287Ter", "hgvsWellDefined": "XP_011519370.1:p.Trp1287_Ile1738delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088232" }, { "coordinates": [ { "allele": "A", "end": 3901, "referenceAllele": "G", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.1:c.3830G>A" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Trp1277Ter", "hgvsWellDefined": "XP_011519371.1:p.Trp1277_Ile1728delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088233" }, { "coordinates": [ { "allele": "A", "end": 3709, "referenceAllele": "G", "start": 3708 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521070.1:c.3638G>A" ], "proteinEffect": { "hgvs": "XP_011519372.1:p.Trp1213Ter", "hgvsWellDefined": "XP_011519372.1:p.Trp1213_Ile1664delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088234" }, { "coordinates": [ { "allele": "A", "end": 4182, "referenceAllele": "G", "start": 4181 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.1:c.3947G>A" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Trp1316Ter", "hgvsWellDefined": "NP_001337677.1:p.Trp1316_Ile1767delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519612" }, { "coordinates": [ { "allele": "A", "end": 3972, "referenceAllele": "G", "start": 3971 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.1:c.3860G>A" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Trp1287Ter", "hgvsWellDefined": "NP_001337678.1:p.Trp1287_Ile1738delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519613" }, { "coordinates": [ { "allele": "A", "end": 4008, "referenceAllele": "G", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.1:c.3773G>A" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Trp1258Ter", "hgvsWellDefined": "NP_001337679.1:p.Trp1258_Ile1709delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519614" }, { "coordinates": [ { "allele": "A", "end": 3885, "referenceAllele": "G", "start": 3884 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.1:c.3773G>A" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Trp1258Ter", "hgvsWellDefined": "NP_001337680.1:p.Trp1258_Ile1709delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519615" }, { "@id": "http://reg.genome.network/allele/PA3080679284", "coordinates": [ { "allele": "A", "end": 4095, "referenceAllele": "G", "start": 4094 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.3:c.3860G>A" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Trp1287Ter", "hgvsWellDefined": "NP_443099.1:p.Trp1287_Ile1738delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526410" }, { "coordinates": [ { "allele": "A", "end": 3989, "referenceAllele": "G", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.2:c.3917G>A" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Trp1306Ter", "hgvsWellDefined": "XP_011519369.1:p.Trp1306_Ile1757delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545980" }, { "coordinates": [ { "allele": "A", "end": 3902, "referenceAllele": "G", "start": 3901 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.2:c.3830G>A" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Trp1277Ter", "hgvsWellDefined": "XP_011519371.1:p.Trp1277_Ile1728delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545981" }, { "coordinates": [ { "allele": "A", "end": 3804, "referenceAllele": "G", "start": 3803 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020536.2:c.3413G>A" ], "proteinEffect": { "hgvs": "XP_016876025.1:p.Trp1138Ter", "hgvsWellDefined": "XP_016876025.1:p.Trp1138_Ile1589delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572002" }, { "coordinates": [ { "allele": "A", "end": 3190, "referenceAllele": "G", "start": 3189 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020537.1:c.3095G>A" ], "proteinEffect": { "hgvs": "XP_016876026.1:p.Trp1032Ter", "hgvsWellDefined": "XP_016876026.1:p.Trp1032_Ile1483delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572003" }, { "coordinates": [ { "allele": "A", "end": 4076, "referenceAllele": "G", "start": 4075 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_024449336.1:c.4004G>A" ], "proteinEffect": { "hgvs": "XP_024305104.1:p.Trp1335Ter", "hgvsWellDefined": "XP_024305104.1:p.Trp1335_Ile1786delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582893" }, { "@id": "http://reg.genome.network/allele/PA3080679284", "coordinates": [ { "allele": "A", "end": 4095, "referenceAllele": "G", "start": 4094 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.4:c.3860G>A" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Trp1287Ter", "hgvsWellDefined": "NP_443099.1:p.Trp1287_Ile1738delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.3860G>A" }, "RefSeq": { "hgvs": "NM_052867.4:c.3860G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Trp1287Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Trp1287Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4182, "referenceAllele": "G", "start": 4181 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.2:c.3947G>A" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Trp1316Ter", "hgvsWellDefined": "NP_001337677.1:p.Trp1316_Ile1767delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688474" }, { "coordinates": [ { "allele": "A", "end": 3972, "referenceAllele": "G", "start": 3971 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.2:c.3860G>A" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Trp1287Ter", "hgvsWellDefined": "NP_001337678.1:p.Trp1287_Ile1738delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688475" }, { "coordinates": [ { "allele": "A", "end": 4008, "referenceAllele": "G", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.2:c.3773G>A" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Trp1258Ter", "hgvsWellDefined": "NP_001337679.1:p.Trp1258_Ile1709delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688476" }, { "coordinates": [ { "allele": "A", "end": 3885, "referenceAllele": "G", "start": 3884 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.2:c.3773G>A" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Trp1258Ter", "hgvsWellDefined": "NP_001337680.1:p.Trp1258_Ile1709delinsValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688477" } ], "type": "nucleotide" }