{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388651789", "communityStandardTitle": [ "NM_052867.4(NALCN):c.3556C>T (p.Gln1186Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=672268[alleleid]", "alleleId": 672268, "preferredName": "NM_052867.4(NALCN):c.3556C>T (p.Gln1186Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/684704", "RCV": [ "RCV000845221" ], "variationId": 684704 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101736089G>A?assembly=hg19", "id": "chr13:g.101736089G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101083738G>A?assembly=hg38", "id": "chr13:g.101083738G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1594168638", "rs": 1594168638 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 101083738, "referenceAllele": "G", "start": 101083737 } ], "hgvs": [ "NC_000013.11:g.101083738G>A", "CM000675.2:g.101083738G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 101736089, "referenceAllele": "G", "start": 101736088 } ], "hgvs": [ "NC_000013.10:g.101736089G>A", "CM000675.1:g.101736089G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 100534090, "referenceAllele": "G", "start": 100534089 } ], "hgvs": [ "NC_000013.9:g.100534090G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 338469, "referenceAllele": "C", "start": 338468 } ], "hgvs": [ "NG_053176.1:g.338469C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617456" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3791, "referenceAllele": "C", "start": 3790 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.11:c.3556C>T" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Gln1186Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Gln1186_Ile1738delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.3556C>T" }, "RefSeq": { "hgvs": "NM_052867.4:c.3556C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Gln1186Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Gln1186Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3757, "referenceAllele": "C", "start": 3756 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000648359.1:c.3556C>T" ], "proteinEffect": { "hgvs": "ENSP00000497465.1:p.Gln1186Ter", "hgvsWellDefined": "ENSP00000497465.1:p.Gln1186_Ser1522delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluThrPheArgArgProAlaGlyLysGlySerGlnArgAspSerValGlyIleSerLeuGlyLeuArgProGluLysGluValThrLeuLysLeuProLysGlyGlnTyrIleThrAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769931" }, { "coordinates": [ { "allele": "T", "end": 3375, "referenceAllele": "C", "start": 3374 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675150.1:c.3277C>T" ], "proteinEffect": { "hgvs": "ENSP00000502680.1:p.Gln1093Ter", "hgvsWellDefined": "ENSP00000502680.1:p.Gln1093_Ile1645delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775016" }, { "coordinates": [ { "allele": "T", "end": 3817, "referenceAllele": "C", "start": 3816 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675332.1:c.3643C>T" ], "proteinEffect": { "hgvs": "ENSP00000501955.1:p.Gln1215Ter", "hgvsWellDefined": "ENSP00000501955.1:p.Gln1215_Ile1767delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775165" }, { "coordinates": [ { "allele": "T", "end": 3670, "referenceAllele": "C", "start": 3669 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000676315.1:c.3469C>T" ], "proteinEffect": { "hgvs": "ENSP00000501603.1:p.Gln1157Ter", "hgvsWellDefined": "ENSP00000501603.1:p.Gln1157_Ile1709delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776012" }, { "coordinates": [ { "allele": "T", "end": 3638, "referenceAllele": "C", "start": 3637 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.10:c.3556C>T" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Gln1186Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Gln1186_Ile1738delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249711" }, { "@id": "http://reg.genome.network/allele/PA2830141089", "coordinates": [ { "allele": "T", "end": 3745, "referenceAllele": "C", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.2:c.3556C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Gln1186Ter", "hgvsWellDefined": "NP_443099.1:p.Gln1186_Ile1738delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039865" }, { "coordinates": [ { "allele": "T", "end": 3684, "referenceAllele": "C", "start": 3683 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.1:c.3613C>T" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Gln1205Ter", "hgvsWellDefined": "XP_011519369.1:p.Gln1205_Ile1757delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088231" }, { "coordinates": [ { "allele": "T", "end": 3652, "referenceAllele": "C", "start": 3651 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521068.1:c.3556C>T" ], "proteinEffect": { "hgvs": "XP_011519370.1:p.Gln1186Ter", "hgvsWellDefined": "XP_011519370.1:p.Gln1186_Ile1738delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088232" }, { "coordinates": [ { "allele": "T", "end": 3597, "referenceAllele": "C", "start": 3596 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.1:c.3526C>T" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Gln1176Ter", "hgvsWellDefined": "XP_011519371.1:p.Gln1176_Ile1728delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088233" }, { "coordinates": [ { "allele": "T", "end": 3405, "referenceAllele": "C", "start": 3404 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521070.1:c.3334C>T" ], "proteinEffect": { "hgvs": "XP_011519372.1:p.Gln1112Ter", "hgvsWellDefined": "XP_011519372.1:p.Gln1112_Ile1664delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088234" }, { "@id": "http://reg.genome.network/allele/PA916030627", "coordinates": [ { "allele": "T", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.1:c.3643C>T" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Gln1215Ter", "hgvsWellDefined": "NP_001337677.1:p.Gln1215_Ile1767delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519612" }, { "@id": "http://reg.genome.network/allele/PA2827569127", "coordinates": [ { "allele": "T", "end": 3668, "referenceAllele": "C", "start": 3667 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.1:c.3556C>T" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Gln1186Ter", "hgvsWellDefined": "NP_001337678.1:p.Gln1186_Ile1738delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519613" }, { "@id": "http://reg.genome.network/allele/PA2827569694", "coordinates": [ { "allele": "T", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.1:c.3469C>T" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Gln1157Ter", "hgvsWellDefined": "NP_001337679.1:p.Gln1157_Ile1709delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519614" }, { "@id": "http://reg.genome.network/allele/PA2827570251", "coordinates": [ { "allele": "T", "end": 3581, "referenceAllele": "C", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.1:c.3469C>T" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Gln1157Ter", "hgvsWellDefined": "NP_001337680.1:p.Gln1157_Ile1709delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519615" }, { "@id": "http://reg.genome.network/allele/PA2830141089", "coordinates": [ { "allele": "T", "end": 3791, "referenceAllele": "C", "start": 3790 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.3:c.3556C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Gln1186Ter", "hgvsWellDefined": "NP_443099.1:p.Gln1186_Ile1738delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526410" }, { "coordinates": [ { "allele": "T", "end": 3685, "referenceAllele": "C", "start": 3684 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.2:c.3613C>T" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Gln1205Ter", "hgvsWellDefined": "XP_011519369.1:p.Gln1205_Ile1757delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545980" }, { "coordinates": [ { "allele": "T", "end": 3598, "referenceAllele": "C", "start": 3597 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.2:c.3526C>T" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Gln1176Ter", "hgvsWellDefined": "XP_011519371.1:p.Gln1176_Ile1728delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545981" }, { "coordinates": [ { "allele": "T", "end": 3500, "referenceAllele": "C", "start": 3499 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020536.2:c.3109C>T" ], "proteinEffect": { "hgvs": "XP_016876025.1:p.Gln1037Ter", "hgvsWellDefined": "XP_016876025.1:p.Gln1037_Ile1589delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572002" }, { "coordinates": [ { "allele": "T", "end": 2886, "referenceAllele": "C", "start": 2885 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020537.1:c.2791C>T" ], "proteinEffect": { "hgvs": "XP_016876026.1:p.Gln931Ter", "hgvsWellDefined": "XP_016876026.1:p.Gln931_Ile1483delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572003" }, { "coordinates": [ { "allele": "T", "end": 3772, "referenceAllele": "C", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_024449336.1:c.3700C>T" ], "proteinEffect": { "hgvs": "XP_024305104.1:p.Gln1234Ter", "hgvsWellDefined": "XP_024305104.1:p.Gln1234_Ile1786delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582893" }, { "@id": "http://reg.genome.network/allele/PA2830141089", "coordinates": [ { "allele": "T", "end": 3791, "referenceAllele": "C", "start": 3790 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.4:c.3556C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Gln1186Ter", "hgvsWellDefined": "NP_443099.1:p.Gln1186_Ile1738delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.3556C>T" }, "RefSeq": { "hgvs": "NM_052867.4:c.3556C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Gln1186Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Gln1186Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916030627", "coordinates": [ { "allele": "T", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.2:c.3643C>T" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Gln1215Ter", "hgvsWellDefined": "NP_001337677.1:p.Gln1215_Ile1767delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688474" }, { "@id": "http://reg.genome.network/allele/PA2827569127", "coordinates": [ { "allele": "T", "end": 3668, "referenceAllele": "C", "start": 3667 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.2:c.3556C>T" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Gln1186Ter", "hgvsWellDefined": "NP_001337678.1:p.Gln1186_Ile1738delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688475" }, { "@id": "http://reg.genome.network/allele/PA2827569694", "coordinates": [ { "allele": "T", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.2:c.3469C>T" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Gln1157Ter", "hgvsWellDefined": "NP_001337679.1:p.Gln1157_Ile1709delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688476" }, { "@id": "http://reg.genome.network/allele/PA2827570251", "coordinates": [ { "allele": "T", "end": 3581, "referenceAllele": "C", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.2:c.3469C>T" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Gln1157Ter", "hgvsWellDefined": "NP_001337680.1:p.Gln1157_Ile1709delinsProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688477" } ], "type": "nucleotide" }