{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413598614", "communityStandardTitle": [ "NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1407571[alleleid]", "alleleId": 1407571, "preferredName": "NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1351221", "RCV": [ "RCV002044567" ], "variationId": 1351221 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77268389G>A?assembly=hg19", "id": "chrX:g.77268389G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.78012892G>A?assembly=hg38", "id": "chrX:g.78012892G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2149095968", "rs": 2149095968 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 78012892, "referenceAllele": "G", "start": 78012891 } ], "hgvs": [ "NC_000023.11:g.78012892G>A", "CM000685.2:g.78012892G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 77268389, "referenceAllele": "G", "start": 77268388 } ], "hgvs": [ "NC_000023.10:g.77268389G>A", "CM000685.1:g.77268389G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 77155045, "referenceAllele": "G", "start": 77155044 } ], "hgvs": [ "NC_000023.9:g.77155045G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 107196, "referenceAllele": "G", "start": 107195 } ], "hgvs": [ "NG_013224.2:g.107196G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002729" } ], "transcriptAlleles": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS829973" }, { "coordinates": [ { "allele": "A", "end": 2304, "referenceAllele": "G", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686033.1:c.2186G>A" ], "proteinEffect": { "hgvs": "ENSP00000510693.1:p.Trp729Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS830367" }, { "coordinates": [ { "allele": "A", "end": 2357, "referenceAllele": "G", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686133.1:c.2186G>A" ], "proteinEffect": { "hgvs": "ENSP00000509233.1:p.Trp729Ter", "hgvsWellDefined": 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"ENSP00000509416.1:p.Trp729_Thr929delinsTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830699" }, { "coordinates": [ { "allele": "A", "end": 2499, "referenceAllele": "G", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000687086.1:c.2186G>A" ], "proteinEffect": { "hgvs": "ENSP00000509566.1:p.Trp729Ter", "hgvsWellDefined": "ENSP00000509566.1:p.Trp729_Leu1500delinsTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830901" }, { "coordinates": [ { "allele": "A", "end": 3542, "referenceAllele": "G", "start": 3541 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000688746.1:n.3542G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831794" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689514.1:n.228G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832211" }, { "coordinates": [ { "allele": "A", "end": 2520, "referenceAllele": "G", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689530.1:c.2186G>A" ], "proteinEffect": { "hgvs": "ENSP00000509707.1:p.Trp729Ter", "hgvsWellDefined": "ENSP00000509707.1:p.Trp729_Pro972del" }, "referenceSequence": "http://reg.genome.network/refseq/RS832222" }, { "coordinates": [ { "allele": "A", "end": 2304, "referenceAllele": "G", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689649.1:c.2186G>A" ], "proteinEffect": { "hgvs": "ENSP00000509277.1:p.Trp729Ter", "hgvsWellDefined": "ENSP00000509277.1:p.Trp729_Phe844delinsTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832281" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "G", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689767.1:c.2279G>A" ], "proteinEffect": { "hgvs": "ENSP00000509406.1:p.Trp760Ter", "hgvsWellDefined": "ENSP00000509406.1:p.Trp760_Leu1531delinsTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832351" }, { "coordinates": [ { "allele": "A", "end": 4801, "referenceAllele": "G", "start": 4800 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689872.1:c.*135G>A" ], "proteinEffect": { "hgvs": "ENSP00000509373.1:n.*135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832417" }, { "coordinates": [ { "allele": "A", "end": 2482, "endIntronDirection": "+", "endIntronOffset": 1218, "referenceAllele": "G", "start": 2482, "startIntronDirection": "+", "startIntronOffset": 1217 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000692908.1:c.2172+1218G>A" ], "proteinEffect": { "hgvs": "ENSP00000508627.1:n.2172+1218G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833947" }, { "coordinates": [ { "allele": "A", "end": 2302, "referenceAllele": "G", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000693398.1:c.2186G>A" ], "proteinEffect": { "hgvs": "ENSP00000510089.1:p.Trp729Ter", "hgvsWellDefined": "ENSP00000510089.1:p.Trp729_Thr929delinsTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834228" }, { "coordinates": [ { "allele": "A", "end": 2350, "referenceAllele": "G", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000341514.11:c.2186G>A" ], "proteinEffect": { "hgvs": "ENSP00000345728.6:p.Trp729Ter", "hgvsWellDefined": "ENSP00000345728.6:p.Trp729_Leu1500delinsTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341514.11:c.2186G>A" }, "RefSeq": { "hgvs": "NM_000052.7:c.2186G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345728.6:p.Trp729Ter" }, "RefSeq": { "hgvs": "NP_000043.4:p.Trp729Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 97, "endIntronDirection": "-", "endIntronOffset": 96974, "referenceAllele": "G", "start": 97, "startIntronDirection": "-", "startIntronOffset": 96975 } ], "gene": "http://reg.genome.network/gene/GN008896", "geneNCBI_id": 5230, "geneSymbol": "PGK1", "hgvs": [ "ENST00000644362.1:c.-19-96975G>A" ], "proteinEffect": { "hgvs": "ENSP00000496140.1:n.-19-96975G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767780" }, { "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000645094.1:c.*2100G>A" ], "proteinEffect": { "hgvs": "ENSP00000493605.1:n.*2100G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768168" }, { "coordinates": [ { "allele": "A", "end": 2341, "referenceAllele": "G", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000341514.10:c.2186G>A" ], "proteinEffect": { "hgvs": "ENSP00000345728.6:p.Trp729Ter", "hgvsWellDefined": "ENSP00000345728.6:p.Trp729_Leu1500delinsTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261356" }, { "coordinates": [ { "allele": "A", "end": 2373, "endIntronDirection": "+", "endIntronOffset": 1218, "referenceAllele": "G", "start": 2373, "startIntronDirection": "+", "startIntronOffset": 1217 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000343533.9:c.2172+1218G>A" ], "proteinEffect": { "hgvs": "ENSP00000343026.5:n.2172+1218G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS261784" }, { "coordinates": [ { "allele": "A", "end": 2314, "referenceAllele": "G", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000350425.5:c.*1359G>A" ], "proteinEffect": { "hgvs": "ENSP00000343678.5:n.*1359G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS262680" }, { "@id": "http://reg.genome.network/allele/PA277262", "coordinates": [ { "allele": "A", "end": 2387, "referenceAllele": "G", "start": 2386 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_000052.6:c.2186G>A" ], "proteinEffect": { "hgvs": "NP_000043.4:p.Trp729Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006117" }, { "coordinates": [ { "allele": "A", "end": 2373, "endIntronDirection": "+", "endIntronOffset": 1218, "referenceAllele": "G", "start": 2373, "startIntronDirection": "+", "startIntronOffset": 1217 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_001282224.1:c.2172+1218G>A" ], "proteinEffect": { "hgvs": "NP_001269153.1:n.2172+1218G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS021822" }, { "coordinates": [ { "allele": "A", "end": 321, "endIntronDirection": "-", "endIntronOffset": 18507, "referenceAllele": "G", "start": 321, "startIntronDirection": "-", "startIntronOffset": 18508 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NR_104109.1:n.322-18508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053210" }, { "@id": "http://reg.genome.network/allele/PA277262", "coordinates": [ { "allele": "A", "end": 2350, "referenceAllele": "G", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_000052.7:c.2186G>A" ], "proteinEffect": { "hgvs": "NP_000043.4:p.Trp729Ter", "hgvsWellDefined": "NP_000043.4:p.Trp729_Leu1500delinsTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662302", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341514.11:c.2186G>A" }, "RefSeq": { "hgvs": "NM_000052.7:c.2186G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345728.6:p.Trp729Ter" }, "RefSeq": { "hgvs": "NP_000043.4:p.Trp729Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 284, "endIntronDirection": "-", "endIntronOffset": 18507, "referenceAllele": "G", "start": 284, "startIntronDirection": "-", "startIntronOffset": 18508 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NR_104109.2:n.285-18508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702930" }, { "coordinates": [ { "allele": "A", "end": 2336, "endIntronDirection": "+", "endIntronOffset": 1218, "referenceAllele": "G", "start": 2336, "startIntronDirection": "+", "startIntronOffset": 1217 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_001282224.2:c.2172+1218G>A" ], "proteinEffect": { "hgvs": "NP_001269153.1:n.2172+1218G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715769" } ], "type": "nucleotide" }