{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7035672", "communityStandardTitle": [ "NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=482036[alleleid]", "alleleId": 482036, "preferredName": "NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/489164", "RCV": [ "RCV000578635", "RCV000623970", "RCV001090146" ], "variationId": 489164 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/13-101759854-G-A", "id": "13-101759854-G-A", "variant": "13:101759854 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101759854G>A?assembly=hg19", "id": "chr13:g.101759854G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101107503G>A?assembly=hg38", "id": "chr13:g.101107503G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/376152742", "rs": 376152742 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101759854-G-A?dataset=gnomad_r2_1", "id": "13-101759854-G-A", "variant": "13:101759854 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101107503-G-A?dataset=gnomad_r3", "id": "13-101107503-G-A", "variant": "13:101107503 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101107503-G-A?dataset=gnomad_r4", "id": "13-101107503-G-A", "variant": "13:101107503 G / A" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 101107503, "referenceAllele": "G", "start": 101107502 } ], "hgvs": [ "NC_000013.11:g.101107503G>A", "CM000675.2:g.101107503G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 101759854, "referenceAllele": "G", "start": 101759853 } ], "hgvs": [ "NC_000013.10:g.101759854G>A", "CM000675.1:g.101759854G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 100557855, "referenceAllele": "G", "start": 100557854 } ], "hgvs": [ "NC_000013.9:g.100557855G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 314704, "referenceAllele": "C", "start": 314703 } ], "hgvs": [ "NG_053176.1:g.314704C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617456" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2798, "referenceAllele": "C", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.11:c.2563C>T" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Arg855Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Arg855_Ile1738delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741462", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.2563C>T" }, "RefSeq": { "hgvs": "NM_052867.4:c.2563C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Arg855Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Arg855Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2764, "referenceAllele": "C", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000648359.1:c.2563C>T" ], "proteinEffect": { "hgvs": "ENSP00000497465.1:p.Arg855Ter", "hgvsWellDefined": "ENSP00000497465.1:p.Arg855_Ser1522delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluThrPheArgArgProAlaGlyLysGlySerGlnArgAspSerValGlyIleSerLeuGlyLeuArgProGluLysGluValThrLeuLysLeuProLysGlyGlnTyrIleThrAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769931" }, { "coordinates": [ { "allele": "T", "end": 2382, "referenceAllele": "C", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675150.1:c.2284C>T" ], "proteinEffect": { "hgvs": "ENSP00000502680.1:p.Arg762Ter", "hgvsWellDefined": "ENSP00000502680.1:p.Arg762_Ile1645delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775016" }, { "coordinates": [ { "allele": "T", "end": 2824, "referenceAllele": "C", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000675332.1:c.2650C>T" ], "proteinEffect": { "hgvs": "ENSP00000501955.1:p.Arg884Ter", "hgvsWellDefined": "ENSP00000501955.1:p.Arg884_Ile1767delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775165" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000676315.1:c.2476C>T" ], "proteinEffect": { "hgvs": "ENSP00000501603.1:p.Arg826Ter", "hgvsWellDefined": "ENSP00000501603.1:p.Arg826_Ile1709delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776012" }, { "coordinates": [ { "allele": "T", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "ENST00000251127.10:c.2563C>T" ], "proteinEffect": { "hgvs": "ENSP00000251127.6:p.Arg855Ter", "hgvsWellDefined": "ENSP00000251127.6:p.Arg855_Ile1738delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249711" }, { "@id": "http://reg.genome.network/allele/PA658714099", "coordinates": [ { "allele": "T", "end": 2752, "referenceAllele": "C", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.2:c.2563C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Arg855Ter", "hgvsWellDefined": "NP_443099.1:p.Arg855_Ile1738delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039865" }, { "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "C", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.1:c.2620C>T" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Arg874Ter", "hgvsWellDefined": "XP_011519369.1:p.Arg874_Ile1757delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088231" }, { "coordinates": [ { "allele": "T", "end": 2659, "referenceAllele": "C", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521068.1:c.2563C>T" ], "proteinEffect": { "hgvs": "XP_011519370.1:p.Arg855Ter", "hgvsWellDefined": "XP_011519370.1:p.Arg855_Ile1738delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088232" }, { "coordinates": [ { "allele": "T", "end": 2604, "referenceAllele": "C", "start": 2603 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.1:c.2533C>T" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Arg845Ter", "hgvsWellDefined": "XP_011519371.1:p.Arg845_Ile1728delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088233" }, { "coordinates": [ { "allele": "T", "end": 2412, "referenceAllele": "C", "start": 2411 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521070.1:c.2341C>T" ], "proteinEffect": { "hgvs": "XP_011519372.1:p.Arg781Ter", "hgvsWellDefined": "XP_011519372.1:p.Arg781_Ile1664delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088234" }, { "@id": "http://reg.genome.network/allele/PA916030621", "coordinates": [ { "allele": "T", "end": 2885, "referenceAllele": "C", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.1:c.2650C>T" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Arg884Ter", "hgvsWellDefined": "NP_001337677.1:p.Arg884_Ile1767delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519612" }, { "@id": "http://reg.genome.network/allele/PA2827569012", "coordinates": [ { "allele": "T", "end": 2675, "referenceAllele": "C", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.1:c.2563C>T" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Arg855Ter", "hgvsWellDefined": "NP_001337678.1:p.Arg855_Ile1738delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519613" }, { "@id": "http://reg.genome.network/allele/PA2827569579", "coordinates": [ { "allele": "T", "end": 2711, "referenceAllele": "C", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.1:c.2476C>T" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Arg826Ter", "hgvsWellDefined": "NP_001337679.1:p.Arg826_Ile1709delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519614" }, { "@id": "http://reg.genome.network/allele/PA2827570146", "coordinates": [ { "allele": "T", "end": 2588, "referenceAllele": "C", "start": 2587 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.1:c.2476C>T" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Arg826Ter", "hgvsWellDefined": "NP_001337680.1:p.Arg826_Ile1709delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519615" }, { "@id": "http://reg.genome.network/allele/PA658714099", "coordinates": [ { "allele": "T", "end": 2798, "referenceAllele": "C", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.3:c.2563C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Arg855Ter", "hgvsWellDefined": "NP_443099.1:p.Arg855_Ile1738delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526410" }, { "coordinates": [ { "allele": "T", "end": 2692, "referenceAllele": "C", "start": 2691 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521067.2:c.2620C>T" ], "proteinEffect": { "hgvs": "XP_011519369.1:p.Arg874Ter", "hgvsWellDefined": "XP_011519369.1:p.Arg874_Ile1757delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545980" }, { "coordinates": [ { "allele": "T", "end": 2605, "referenceAllele": "C", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_011521069.2:c.2533C>T" ], "proteinEffect": { "hgvs": "XP_011519371.1:p.Arg845Ter", "hgvsWellDefined": "XP_011519371.1:p.Arg845_Ile1728delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545981" }, { "coordinates": [ { "allele": "T", "end": 2507, "referenceAllele": "C", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020536.2:c.2116C>T" ], "proteinEffect": { "hgvs": "XP_016876025.1:p.Arg706Ter", "hgvsWellDefined": "XP_016876025.1:p.Arg706_Ile1589delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572002" }, { "coordinates": [ { "allele": "T", "end": 1893, "referenceAllele": "C", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_017020537.1:c.1798C>T" ], "proteinEffect": { "hgvs": "XP_016876026.1:p.Arg600Ter", "hgvsWellDefined": "XP_016876026.1:p.Arg600_Ile1483delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572003" }, { "coordinates": [ { "allele": "T", "end": 2779, "referenceAllele": "C", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "XM_024449336.1:c.2707C>T" ], "proteinEffect": { "hgvs": "XP_024305104.1:p.Arg903Ter", "hgvsWellDefined": "XP_024305104.1:p.Arg903_Ile1786delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582893" }, { "@id": "http://reg.genome.network/allele/PA658714099", "coordinates": [ { "allele": "T", "end": 2798, "referenceAllele": "C", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_052867.4:c.2563C>T" ], "proteinEffect": { "hgvs": "NP_443099.1:p.Arg855Ter", "hgvsWellDefined": "NP_443099.1:p.Arg855_Ile1738delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251127.11:c.2563C>T" }, "RefSeq": { "hgvs": "NM_052867.4:c.2563C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251127.6:p.Arg855Ter" }, "RefSeq": { "hgvs": "NP_443099.1:p.Arg855Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916030621", "coordinates": [ { "allele": "T", "end": 2885, "referenceAllele": "C", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350748.2:c.2650C>T" ], "proteinEffect": { "hgvs": "NP_001337677.1:p.Arg884Ter", "hgvsWellDefined": "NP_001337677.1:p.Arg884_Ile1767delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688474" }, { "@id": "http://reg.genome.network/allele/PA2827569012", "coordinates": [ { "allele": "T", "end": 2675, "referenceAllele": "C", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350749.2:c.2563C>T" ], "proteinEffect": { "hgvs": "NP_001337678.1:p.Arg855Ter", "hgvsWellDefined": "NP_001337678.1:p.Arg855_Ile1738delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688475" }, { "@id": "http://reg.genome.network/allele/PA2827569579", "coordinates": [ { "allele": "T", "end": 2711, "referenceAllele": "C", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350750.2:c.2476C>T" ], "proteinEffect": { "hgvs": "NP_001337679.1:p.Arg826Ter", "hgvsWellDefined": "NP_001337679.1:p.Arg826_Ile1709delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688476" }, { "@id": "http://reg.genome.network/allele/PA2827570146", "coordinates": [ { "allele": "T", "end": 2588, "referenceAllele": "C", "start": 2587 } ], "gene": "http://reg.genome.network/gene/GN019082", "geneNCBI_id": 259232, "geneSymbol": "NALCN", "hgvs": [ "NM_001350751.2:c.2476C>T" ], "proteinEffect": { "hgvs": "NP_001337680.1:p.Arg826Ter", "hgvsWellDefined": "NP_001337680.1:p.Arg826_Ile1709delinsAlaArgPheAsnAlaSerLysThrAspProValThrGlyAlaValLysAsnThrLysTyrHisGlnLeuTyrAspLeuLeuGlyLeuValThrTyrLeuAspTrpValMetIleIleValThrIleCysSerCysIleSerMetMetPheGluSerProPheArgArgValMetHisAlaProThrLeuGlnIleAlaGluTyrValPheValIlePheMetSerIleGluLeuAsnLeuLysIleMetAlaAspGlyLeuPhePheThrProThrAlaValIleArgAspPheGlyGlyValMetAspIlePheIleTyrLeuValSerLeuIlePheLeuCysTrpMetProGlnAsnValProAlaGluSerGlyAlaGlnLeuLeuMetValLeuArgCysLeuArgProLeuArgIlePheLysLeuValProGlnMetArgLysValValArgGluLeuPheSerGlyPheLysGluIlePheLeuValSerIleLeuLeuLeuThrLeuMetLeuValPheAlaSerPheGlyValGlnLeuPheAlaGlyLysLeuAlaLysCysAsnAspProAsnIleIleArgArgGluAspCysAsnGlyIlePheArgIleAsnValSerValSerLysAsnLeuAsnLeuLysLeuArgProGlyGluLysLysProGlyPheTrpValProArgValTrpAlaAsnProArgAsnPheAsnPheAspAsnValGlyAsnAlaMetLeuAlaLeuPheGluValLeuSerLeuLysGlyTrpValGluValArgAspValIleIleHisArgValGlyProIleHisGlyIleTyrIleHisValPheValPheLeuGlyCysMetIleGlyLeuThrLeuPheValGlyValValIleAlaAsnPheAsnGluAsnLysGlyThrAlaLeuLeuThrValAspGlnArgArgTrpGluAspLeuLysSerArgLeuLysIleAlaGlnProLeuHisLeuProProArgProAspAsnAspGlyPheArgAlaLysMetTyrAspIleThrGlnHisProPhePheLysArgThrIleAlaLeuLeuValLeuAlaGlnSerValLeuLeuSerValLysTrpAspValGluAspProValThrValProLeuAlaThrMetSerValValPheThrPheIlePheValLeuGluValThrMetLysIleIleAlaMetSerProAlaGlyPheTrpGlnSerArgArgAsnArgTyrAspLeuLeuValThrSerLeuGlyValValTrpValValLeuHisPheAlaLeuLeuAsnAlaTyrThrTyrMetMetGlyAlaCysValIleValPheArgPhePheSerIleCysGlyLysHisValThrLeuLysMetLeuLeuLeuThrValValValSerMetTyrLysSerPhePheIleIleValGlyMetPheLeuLeuLeuLeuCysTyrAlaPheAlaGlyValValLeuPheGlyThrValLysTyrGlyGluAsnIleAsnArgHisAlaAsnPheSerSerAlaGlyLysAlaIleThrValLeuPheArgIleValThrGlyGluAspTrpAsnLysIleMetHisAspCysMetValGlnProProPheCysThrProAspGluPheThrTyrTrpAlaThrAspCysGlyAsnTyrAlaGlyAlaLeuMetTyrPheCysSerPheTyrValIleIleAlaTyrIleMetLeuAsnLeuLeuValAlaIleIleValGluAsnPheSerLeuPheTyrSerThrGluGluAspGlnLeuLeuSerTyrAsnAspLeuArgHisPheGlnIleIleTrpAsnMetValAspAspLysArgGluGlyValIleProThrPheArgValLysPheLeuLeuArgLeuLeuArgGlyArgLeuGluValAspLeuAspLysAspLysLeuLeuPheLysHisMetCysTyrGluMetGluArgLeuHisAsnGlyGlyAspValThrPheHisAspValLeuSerMetLeuSerTyrArgSerValAspIleArgLysSerLeuGlnLeuGluGluLeuLeuAlaArgGluGlnLeuGluTyrThrIleGluGluGluValAlaLysGlnThrIleArgMetTrpLeuLysLysCysLeuLysArgIleArgAlaLysGlnGlnGlnSerCysSerIleIleHisSerLeuArgGluSerGlnGlnGlnGluLeuSerArgPheLeuAsnProProSerIleGluThrThrGlnProSerGluAspThrAsnAlaAsnSerGlnAspAsnSerMetGlnProGluThrSerSerGlnGlnGlnLeuLeuSerProThrLeuSerAspArgGlyGlySerArgGlnAspAlaAlaAspAlaGlyLysProGlnArgLysPheGlyGlnTrpArgLeuProSerAlaProLysProIleSerHisSerValSerSerValAsnLeuArgPheGlyGlyArgThrThrMetLysSerValValCysLysMetAsnProMetThrAspAlaAlaSerCysGlySerGluValLysLysTrpTrpThrArgGlnLeuThrValGluSerAspGluSerGlyAspAspLeuLeuAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688477" } ], "type": "nucleotide" }