{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388653333", "communityStandardTitle": [ "NM_052867.4(NALCN):c.3269G>A (p.Trp1090Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513326[alleleid]", "alleleId": 513326, "preferredName": "NM_052867.4(NALCN):c.3269G>A (p.Trp1090Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522637", "RCV": [ "RCV000625775" ], "variationId": 522637 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101747925C>T?assembly=hg19", "id": "chr13:g.101747925C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101095574C>T?assembly=hg38", "id": "chr13:g.101095574C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555379886", "rs": 1555379886 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101095574-C-T?dataset=gnomad_r4", "id": "13-101095574-C-T", "variant": "13:101095574 C / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 101095574, "referenceAllele": "C", "start": 101095573 } ], "hgvs": [ "NC_000013.11:g.101095574C>T", "CM000675.2:g.101095574C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 101747925, "referenceAllele": "C", "start": 101747924 } ], "hgvs": [ "NC_000013.10:g.101747925C>T", "CM000675.1:g.101747925C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 100545926, "referenceAllele": "C", "start": 100545925 } ], "hgvs": [ "NC_000013.9:g.100545926C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 326633, "referenceAllele": "G", "start": 326632 } ], "hgvs": [ "NG_053176.1:g.326633G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617456" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3504, "referenceAllele": "G", "start": 3503 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.11:c.3269G>A" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Trp1090Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Trp1090_Ile1738delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.3269G>A" }, "RefSeq": { "hgvs": "NM_052867.4:c.3269G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Trp1090Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Trp1090Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3470, "referenceAllele": "G", "start": 3469 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000648359.1:c.3269G>A" ], "proteinEffect": { "hgvs": "ENSP00000497465.1:p.Trp1090Ter", "hgvsWellDefined": "ENSP00000497465.1:p.Trp1090_Ser1522delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluThrPheArgArgProAlaGlyLysGlySerGlnArgAspSerValGlyIleSerLeuGlyLeuArgProGluLysGluValThrLeuLysLeuProLysGlyGlnTyrIleThrAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769931" }, { "coordinates": [ { "allele": "A", "end": 3088, "referenceAllele": "G", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675150.1:c.2990G>A" ], "proteinEffect": { "hgvs": "ENSP00000502680.1:p.Trp997Ter", "hgvsWellDefined": "ENSP00000502680.1:p.Trp997_Ile1645delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775016" }, { "coordinates": [ { "allele": "A", "end": 3530, "referenceAllele": "G", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675332.1:c.3356G>A" ], "proteinEffect": { "hgvs": "ENSP00000501955.1:p.Trp1119Ter", "hgvsWellDefined": "ENSP00000501955.1:p.Trp1119_Ile1767delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775165" }, { "coordinates": [ { "allele": "A", "end": 3383, "referenceAllele": "G", "start": 3382 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000676315.1:c.3182G>A" ], "proteinEffect": { "hgvs": "ENSP00000501603.1:p.Trp1061Ter", "hgvsWellDefined": "ENSP00000501603.1:p.Trp1061_Ile1709delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776012" }, { "coordinates": [ { "allele": "A", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.10:c.3269G>A" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Trp1090Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Trp1090_Ile1738delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249711" }, { "@id": "http://reg.genome.network/allele/PA658819950", "coordinates": [ { "allele": "A", "end": 3458, "referenceAllele": "G", "start": 3457 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.2:c.3269G>A" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Trp1090Ter", "hgvsWellDefined": "NP_443099.1:p.Trp1090_Ile1738delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039865" }, { "coordinates": [ { "allele": "A", "end": 3397, "referenceAllele": "G", "start": 3396 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.1:c.3326G>A" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Trp1109Ter", "hgvsWellDefined": "XP_011519369.1:p.Trp1109_Ile1757delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088231" }, { "coordinates": [ { "allele": "A", "end": 3365, "referenceAllele": "G", "start": 3364 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521068.1:c.3269G>A" ], "proteinEffect": { "hgvs": "XP_011519370.1:p.Trp1090Ter", "hgvsWellDefined": "XP_011519370.1:p.Trp1090_Ile1738delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088232" }, { "coordinates": [ { "allele": "A", "end": 3310, "referenceAllele": "G", "start": 3309 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.1:c.3239G>A" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Trp1080Ter", "hgvsWellDefined": "XP_011519371.1:p.Trp1080_Ile1728delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088233" }, { "coordinates": [ { "allele": "A", "end": 3118, "referenceAllele": "G", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521070.1:c.3047G>A" ], "proteinEffect": { "hgvs": "XP_011519372.1:p.Trp1016Ter", "hgvsWellDefined": "XP_011519372.1:p.Trp1016_Ile1664delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088234" }, { "@id": "http://reg.genome.network/allele/PA916030622", "coordinates": [ { "allele": "A", "end": 3591, "referenceAllele": "G", "start": 3590 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.1:c.3356G>A" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Trp1119Ter", "hgvsWellDefined": "NP_001337677.1:p.Trp1119_Ile1767delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519612" }, { "@id": "http://reg.genome.network/allele/PA2827569093", "coordinates": [ { "allele": "A", "end": 3381, "referenceAllele": "G", "start": 3380 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.1:c.3269G>A" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Trp1090Ter", "hgvsWellDefined": "NP_001337678.1:p.Trp1090_Ile1738delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519613" }, { "@id": "http://reg.genome.network/allele/PA2827569660", "coordinates": [ { "allele": "A", "end": 3417, "referenceAllele": "G", "start": 3416 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.1:c.3182G>A" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Trp1061Ter", "hgvsWellDefined": "NP_001337679.1:p.Trp1061_Ile1709delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519614" }, { "@id": "http://reg.genome.network/allele/PA2827570217", "coordinates": [ { "allele": "A", "end": 3294, "referenceAllele": "G", "start": 3293 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.1:c.3182G>A" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Trp1061Ter", "hgvsWellDefined": "NP_001337680.1:p.Trp1061_Ile1709delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519615" }, { "@id": "http://reg.genome.network/allele/PA658819950", "coordinates": [ { "allele": "A", "end": 3504, "referenceAllele": "G", "start": 3503 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.3:c.3269G>A" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Trp1090Ter", "hgvsWellDefined": "NP_443099.1:p.Trp1090_Ile1738delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526410" }, { "coordinates": [ { "allele": "A", "end": 3398, "referenceAllele": "G", "start": 3397 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.2:c.3326G>A" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Trp1109Ter", "hgvsWellDefined": "XP_011519369.1:p.Trp1109_Ile1757delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545980" }, { "coordinates": [ { "allele": "A", "end": 3311, "referenceAllele": "G", "start": 3310 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.2:c.3239G>A" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Trp1080Ter", "hgvsWellDefined": "XP_011519371.1:p.Trp1080_Ile1728delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545981" }, { "coordinates": [ { "allele": "A", "end": 3213, "referenceAllele": "G", "start": 3212 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020536.2:c.2822G>A" ], "proteinEffect": { "hgvs": "XP_016876025.1:p.Trp941Ter", "hgvsWellDefined": "XP_016876025.1:p.Trp941_Ile1589delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572002" }, { "coordinates": [ { "allele": "A", "end": 2599, "referenceAllele": "G", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020537.1:c.2504G>A" ], "proteinEffect": { "hgvs": "XP_016876026.1:p.Trp835Ter", "hgvsWellDefined": "XP_016876026.1:p.Trp835_Ile1483delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572003" }, { "coordinates": [ { "allele": "A", "end": 3485, "referenceAllele": "G", "start": 3484 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_024449336.1:c.3413G>A" ], "proteinEffect": { "hgvs": "XP_024305104.1:p.Trp1138Ter", "hgvsWellDefined": "XP_024305104.1:p.Trp1138_Ile1786delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582893" }, { "@id": "http://reg.genome.network/allele/PA658819950", "coordinates": [ { "allele": "A", "end": 3504, "referenceAllele": "G", "start": 3503 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.4:c.3269G>A" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Trp1090Ter", "hgvsWellDefined": "NP_443099.1:p.Trp1090_Ile1738delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.3269G>A" }, "RefSeq": { "hgvs": "NM_052867.4:c.3269G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Trp1090Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Trp1090Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916030622", "coordinates": [ { "allele": "A", "end": 3591, "referenceAllele": "G", "start": 3590 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.2:c.3356G>A" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Trp1119Ter", "hgvsWellDefined": "NP_001337677.1:p.Trp1119_Ile1767delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688474" }, { "@id": "http://reg.genome.network/allele/PA2827569093", "coordinates": [ { "allele": "A", "end": 3381, "referenceAllele": "G", "start": 3380 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.2:c.3269G>A" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Trp1090Ter", "hgvsWellDefined": "NP_001337678.1:p.Trp1090_Ile1738delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688475" }, { "@id": "http://reg.genome.network/allele/PA2827569660", "coordinates": [ { "allele": "A", "end": 3417, "referenceAllele": "G", "start": 3416 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.2:c.3182G>A" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Trp1061Ter", "hgvsWellDefined": "NP_001337679.1:p.Trp1061_Ile1709delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688476" }, { "@id": "http://reg.genome.network/allele/PA2827570217", "coordinates": [ { "allele": "A", "end": 3294, "referenceAllele": "G", "start": 3293 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.2:c.3182G>A" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Trp1061Ter", "hgvsWellDefined": "NP_001337680.1:p.Trp1061_Ile1709delinsAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688477" } ], "type": "nucleotide" }