{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7035523", "communityStandardTitle": [ "NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=141416", "active": true, "id": "COSM141416" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=672270[alleleid]", "alleleId": 672270, "preferredName": "NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/684699", "RCV": [ "RCV000845216", "RCV002269323" ], "variationId": 684699 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/13-101755558-G-A", "id": "13-101755558-G-A", "variant": "13:101755558 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101755558G>A?assembly=hg19", "id": "chr13:g.101755558G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101103207G>A?assembly=hg38", "id": "chr13:g.101103207G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/766421214", "rs": 766421214 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101755558-G-A?dataset=gnomad_r2_1", "id": "13-101755558-G-A", "variant": "13:101755558 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101103207-G-A?dataset=gnomad_r3", "id": "13-101103207-G-A", "variant": "13:101103207 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101103207-G-A?dataset=gnomad_r4", "id": "13-101103207-G-A", "variant": "13:101103207 G / A" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 101103207, "referenceAllele": "G", "start": 101103206 } ], "hgvs": [ "NC_000013.11:g.101103207G>A", "CM000675.2:g.101103207G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 101755558, "referenceAllele": "G", "start": 101755557 } ], "hgvs": [ "NC_000013.10:g.101755558G>A", "CM000675.1:g.101755558G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 100553559, "referenceAllele": "G", "start": 100553558 } ], "hgvs": [ "NC_000013.9:g.100553559G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 319000, "referenceAllele": "C", "start": 318999 } ], "hgvs": [ "NG_053176.1:g.319000C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617456" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3257, "referenceAllele": "C", "start": 3256 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.11:c.3022C>T" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Arg1008Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Arg1008_Ile1738delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.3022C>T" }, "RefSeq": { "hgvs": "NM_052867.4:c.3022C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Arg1008Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Arg1008Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3223, "referenceAllele": "C", "start": 3222 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000648359.1:c.3022C>T" ], "proteinEffect": { "hgvs": "ENSP00000497465.1:p.Arg1008Ter", "hgvsWellDefined": "ENSP00000497465.1:p.Arg1008_Ser1522delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluThrPheArgArgProAlaGlyLysGlySerGlnArgAspSerValGlyIleSerLeuGlyLeuArgProGluLysGluValThrLeuLysLeuProLysGlyGlnTyrIleThrAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769931" }, { "coordinates": [ { "allele": "T", "end": 2841, "referenceAllele": "C", "start": 2840 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675150.1:c.2743C>T" ], "proteinEffect": { "hgvs": "ENSP00000502680.1:p.Arg915Ter", "hgvsWellDefined": "ENSP00000502680.1:p.Arg915_Ile1645delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775016" }, { "coordinates": [ { "allele": "T", "end": 3283, "referenceAllele": "C", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675332.1:c.3109C>T" ], "proteinEffect": { "hgvs": "ENSP00000501955.1:p.Arg1037Ter", "hgvsWellDefined": "ENSP00000501955.1:p.Arg1037_Ile1767delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775165" }, { "coordinates": [ { "allele": "T", "end": 3136, "referenceAllele": "C", "start": 3135 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000676315.1:c.2935C>T" ], "proteinEffect": { "hgvs": "ENSP00000501603.1:p.Arg979Ter", "hgvsWellDefined": "ENSP00000501603.1:p.Arg979_Ile1709delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776012" }, { "coordinates": [ { "allele": "T", "end": 3104, "referenceAllele": "C", "start": 3103 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.10:c.3022C>T" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Arg1008Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Arg1008_Ile1738delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249711" }, { "@id": "http://reg.genome.network/allele/PA2830141005", "coordinates": [ { "allele": "T", "end": 3211, "referenceAllele": "C", "start": 3210 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.2:c.3022C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Arg1008Ter", "hgvsWellDefined": "NP_443099.1:p.Arg1008_Ile1738delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039865" }, { "coordinates": [ { "allele": "T", "end": 3150, "referenceAllele": "C", "start": 3149 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.1:c.3079C>T" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Arg1027Ter", "hgvsWellDefined": "XP_011519369.1:p.Arg1027_Ile1757delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088231" }, { "coordinates": [ { "allele": "T", "end": 3118, "referenceAllele": "C", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521068.1:c.3022C>T" ], "proteinEffect": { "hgvs": "XP_011519370.1:p.Arg1008Ter", "hgvsWellDefined": "XP_011519370.1:p.Arg1008_Ile1738delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088232" }, { "coordinates": [ { "allele": "T", "end": 3063, "referenceAllele": "C", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.1:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Arg998Ter", "hgvsWellDefined": "XP_011519371.1:p.Arg998_Ile1728delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088233" }, { "coordinates": [ { "allele": "T", "end": 2871, "referenceAllele": "C", "start": 2870 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521070.1:c.2800C>T" ], "proteinEffect": { "hgvs": "XP_011519372.1:p.Arg934Ter", "hgvsWellDefined": "XP_011519372.1:p.Arg934_Ile1664delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088234" }, { "@id": "http://reg.genome.network/allele/PA2827568651", "coordinates": [ { "allele": "T", "end": 3344, "referenceAllele": "C", "start": 3343 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.1:c.3109C>T" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Arg1037Ter", "hgvsWellDefined": "NP_001337677.1:p.Arg1037_Ile1767delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519612" }, { "@id": "http://reg.genome.network/allele/PA2827569059", "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.1:c.3022C>T" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Arg1008Ter", "hgvsWellDefined": "NP_001337678.1:p.Arg1008_Ile1738delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519613" }, { "@id": "http://reg.genome.network/allele/PA2827569626", "coordinates": [ { "allele": "T", "end": 3170, "referenceAllele": "C", "start": 3169 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.1:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Arg979Ter", "hgvsWellDefined": "NP_001337679.1:p.Arg979_Ile1709delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519614" }, { "@id": "http://reg.genome.network/allele/PA916030640", "coordinates": [ { "allele": "T", "end": 3047, "referenceAllele": "C", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.1:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Arg979Ter", "hgvsWellDefined": "NP_001337680.1:p.Arg979_Ile1709delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519615" }, { "@id": "http://reg.genome.network/allele/PA2830141005", "coordinates": [ { "allele": "T", "end": 3257, "referenceAllele": "C", "start": 3256 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.3:c.3022C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Arg1008Ter", "hgvsWellDefined": "NP_443099.1:p.Arg1008_Ile1738delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526410" }, { "coordinates": [ { "allele": "T", "end": 3151, "referenceAllele": "C", "start": 3150 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.2:c.3079C>T" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Arg1027Ter", "hgvsWellDefined": "XP_011519369.1:p.Arg1027_Ile1757delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545980" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "C", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.2:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Arg998Ter", "hgvsWellDefined": "XP_011519371.1:p.Arg998_Ile1728delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545981" }, { "coordinates": [ { "allele": "T", "end": 2966, "referenceAllele": "C", "start": 2965 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020536.2:c.2575C>T" ], "proteinEffect": { "hgvs": "XP_016876025.1:p.Arg859Ter", "hgvsWellDefined": "XP_016876025.1:p.Arg859_Ile1589delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572002" }, { "coordinates": [ { "allele": "T", "end": 2352, "referenceAllele": "C", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020537.1:c.2257C>T" ], "proteinEffect": { "hgvs": "XP_016876026.1:p.Arg753Ter", "hgvsWellDefined": "XP_016876026.1:p.Arg753_Ile1483delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572003" }, { "coordinates": [ { "allele": "T", "end": 3238, "referenceAllele": "C", "start": 3237 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_024449336.1:c.3166C>T" ], "proteinEffect": { "hgvs": "XP_024305104.1:p.Arg1056Ter", "hgvsWellDefined": "XP_024305104.1:p.Arg1056_Ile1786delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582893" }, { "@id": "http://reg.genome.network/allele/PA2830141005", "coordinates": [ { "allele": "T", "end": 3257, "referenceAllele": "C", "start": 3256 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.4:c.3022C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Arg1008Ter", "hgvsWellDefined": "NP_443099.1:p.Arg1008_Ile1738delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.3022C>T" }, "RefSeq": { "hgvs": "NM_052867.4:c.3022C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Arg1008Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Arg1008Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827568651", "coordinates": [ { "allele": "T", "end": 3344, "referenceAllele": "C", "start": 3343 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.2:c.3109C>T" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Arg1037Ter", "hgvsWellDefined": "NP_001337677.1:p.Arg1037_Ile1767delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688474" }, { "@id": "http://reg.genome.network/allele/PA2827569059", "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.2:c.3022C>T" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Arg1008Ter", "hgvsWellDefined": "NP_001337678.1:p.Arg1008_Ile1738delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688475" }, { "@id": "http://reg.genome.network/allele/PA2827569626", "coordinates": [ { "allele": "T", "end": 3170, "referenceAllele": "C", "start": 3169 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.2:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Arg979Ter", "hgvsWellDefined": "NP_001337679.1:p.Arg979_Ile1709delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688476" }, { "@id": "http://reg.genome.network/allele/PA916030640", "coordinates": [ { "allele": "T", "end": 3047, "referenceAllele": "C", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.2:c.2935C>T" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Arg979Ter", "hgvsWellDefined": "NP_001337680.1:p.Arg979_Ile1709delinsGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688477" } ], "type": "nucleotide" }