{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277062", "communityStandardTitle": [ "NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209239[alleleid]", "alleleId": 209239, "preferredName": "NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210414", "RCV": [ "RCV000193010" ], "variationId": 210414 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77267159T>A?assembly=hg19", "id": "chrX:g.77267159T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.78011662T>A?assembly=hg38", "id": "chrX:g.78011662T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/797045346", "rs": 797045346 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 78011662, "referenceAllele": "T", "start": 78011661 } ], "hgvs": [ "NC_000023.11:g.78011662T>A", "CM000685.2:g.78011662T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 77267159, "referenceAllele": "T", "start": 77267158 } ], "hgvs": [ "NC_000023.10:g.77267159T>A", "CM000685.1:g.77267159T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 77153815, "referenceAllele": "T", "start": 77153814 } ], "hgvs": [ "NC_000023.9:g.77153815T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 105966, "referenceAllele": "T", "start": 105965 } ], "hgvs": [ "NG_013224.2:g.105966T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002729" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2380, "referenceAllele": "T", "start": 2379 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000343533.10:c.2190T>A" ], "proteinEffect": { "hgvs": "ENSP00000343026.6:p.Cys730Ter", "hgvsWellDefined": "ENSP00000343026.6:p.Cys730_Leu1510delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824031" }, { "coordinates": [ { "allele": "A", "end": 811, "referenceAllele": "T", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000682475.1:n.811T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827465" }, { "coordinates": [ { "allele": "A", "end": 2352, "referenceAllele": "T", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000685264.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000510136.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000510136.1:p.Cys720_Leu1500delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829973" }, { "coordinates": [ { "allele": "A", "end": 2278, "referenceAllele": "T", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686033.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000510693.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000510693.1:p.Cys720_Leu1435delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830367" }, { "coordinates": [ { "allele": "A", "end": 2331, "referenceAllele": "T", "start": 2330 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686133.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000509233.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000509233.1:p.Cys720_Leu1500delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830415" }, { "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "T", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686255.1:n.1191T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830484" }, { "coordinates": [ { "allele": "A", "end": 2278, "referenceAllele": "T", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686480.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000508978.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000508978.1:p.Cys720_Phe766delinsValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830601" }, { "coordinates": [ { "allele": "A", "end": 2300, "referenceAllele": "T", "start": 2299 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686515.1:n.2300T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830609" }, { "coordinates": [ { "allele": "A", "end": 2278, "referenceAllele": "T", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686543.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000509477.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000509477.1:p.Cys720_Leu1422delinsValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830623" }, { "coordinates": [ { "allele": "A", "end": 2322, "referenceAllele": "T", "start": 2321 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686688.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000509416.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000509416.1:p.Cys720_Thr929delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830699" }, { "coordinates": [ { "allele": "A", "end": 2471, "referenceAllele": "T", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686999.1:n.2471T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830855" }, { "coordinates": [ { "allele": "A", "end": 2473, "referenceAllele": "T", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000687086.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000509566.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000509566.1:p.Cys720_Leu1500delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830901" }, { "coordinates": [ { "allele": "A", "end": 4369, "referenceAllele": "T", "start": 4368 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000687628.1:n.4369T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831183" }, { "coordinates": [ { "allele": "A", "end": 2312, "referenceAllele": "T", "start": 2311 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000688746.1:n.2312T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831794" }, { "coordinates": [ { "allele": "A", "end": 202, "referenceAllele": "T", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689514.1:n.202T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832211" }, { "coordinates": [ { "allele": "A", "end": 2494, "referenceAllele": "T", "start": 2493 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689530.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000509707.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000509707.1:p.Cys720_Pro972del" }, "referenceSequence": "http://reg.genome.network/refseq/RS832222" }, { "coordinates": [ { "allele": "A", "end": 2278, "referenceAllele": "T", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689649.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000509277.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000509277.1:p.Cys720_Phe844delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832281" }, { "coordinates": [ { "allele": "A", "end": 2401, "referenceAllele": "T", "start": 2400 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689767.1:c.2253T>A" ], "proteinEffect": { "hgvs": "ENSP00000509406.1:p.Cys751Ter", "hgvsWellDefined": "ENSP00000509406.1:p.Cys751_Leu1531delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832351" }, { "coordinates": [ { "allele": "A", "end": 4775, "referenceAllele": "T", "start": 4774 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689872.1:c.*109T>A" ], "proteinEffect": { "hgvs": "ENSP00000509373.1:n.*109T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832417" }, { "coordinates": [ { "allele": "A", "end": 2190, "referenceAllele": "T", "start": 2189 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000692110.1:c.2076T>A" ], "proteinEffect": { "hgvs": "ENSP00000509366.1:p.Cys692Ter", "hgvsWellDefined": "ENSP00000509366.1:p.Cys692_Gln696del" }, "referenceSequence": "http://reg.genome.network/refseq/RS833547" }, { "coordinates": [ { "allele": "A", "end": 2470, "referenceAllele": "T", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000692908.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000508627.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000508627.1:p.Cys720_Leu1422delinsValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833947" }, { "coordinates": [ { "allele": "A", "end": 2276, "referenceAllele": "T", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000693398.1:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000510089.1:p.Cys720Ter", "hgvsWellDefined": "ENSP00000510089.1:p.Cys720_Thr929delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834228" }, { "coordinates": [ { "allele": "A", "end": 2324, "referenceAllele": "T", "start": 2323 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000341514.11:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000345728.6:p.Cys720Ter", "hgvsWellDefined": "ENSP00000345728.6:p.Cys720_Leu1500delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341514.11:c.2160T>A" }, "RefSeq": { "hgvs": "NM_000052.7:c.2160T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345728.6:p.Cys720Ter" }, "RefSeq": { "hgvs": "NP_000043.4:p.Cys720Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 97, "endIntronDirection": "-", "endIntronOffset": 98204, "referenceAllele": "T", "start": 97, "startIntronDirection": "-", "startIntronOffset": 98205 } ], "gene": "http://reg.genome.network/gene/GN008896", "geneNCBI_id": 5230, "geneSymbol": "PGK1", "hgvs": [ "ENST00000644362.1:c.-19-98205T>A" ], "proteinEffect": { "hgvs": "ENSP00000496140.1:n.-19-98205T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767780" }, { "coordinates": [ { "allele": "A", "end": 2341, "referenceAllele": "T", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000645094.1:c.*2074T>A" ], "proteinEffect": { "hgvs": "ENSP00000493605.1:n.*2074T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768168" }, { "coordinates": [ { "allele": "A", "end": 2315, "referenceAllele": "T", "start": 2314 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000341514.10:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000345728.6:p.Cys720Ter", "hgvsWellDefined": "ENSP00000345728.6:p.Cys720_Leu1500delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261356" }, { "coordinates": [ { "allele": "A", "end": 2361, "referenceAllele": "T", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000343533.9:c.2160T>A" ], "proteinEffect": { "hgvs": "ENSP00000343026.5:p.Cys720Ter", "hgvsWellDefined": "ENSP00000343026.5:p.Cys720_Leu1422delinsValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261784" }, { "coordinates": [ { "allele": "A", "end": 2288, "referenceAllele": "T", "start": 2287 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000350425.5:c.*1333T>A" ], "proteinEffect": { "hgvs": "ENSP00000343678.5:n.*1333T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS262680" }, { "@id": "http://reg.genome.network/allele/PA277063", "coordinates": [ { "allele": "A", "end": 2361, "referenceAllele": "T", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_000052.6:c.2160T>A" ], "proteinEffect": { "hgvs": "NP_000043.4:p.Cys720Ter", "hgvsWellDefined": "NP_000043.4:p.Cys720_Leu1500delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006117" }, { "@id": "http://reg.genome.network/allele/PA916012699", "coordinates": [ { "allele": "A", "end": 2361, "referenceAllele": "T", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_001282224.1:c.2160T>A" ], "proteinEffect": { "hgvs": "NP_001269153.1:p.Cys720Ter", "hgvsWellDefined": "NP_001269153.1:p.Cys720_Leu1422delinsValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021822" }, { "coordinates": [ { "allele": "A", "end": 321, "endIntronDirection": "-", "endIntronOffset": 19737, "referenceAllele": "T", "start": 321, "startIntronDirection": "-", "startIntronOffset": 19738 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NR_104109.1:n.322-19738T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053210" }, { "@id": "http://reg.genome.network/allele/PA277063", "coordinates": [ { "allele": "A", "end": 2324, "referenceAllele": "T", "start": 2323 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_000052.7:c.2160T>A" ], "proteinEffect": { "hgvs": "NP_000043.4:p.Cys720Ter", "hgvsWellDefined": "NP_000043.4:p.Cys720_Leu1500delinsValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662302", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341514.11:c.2160T>A" }, "RefSeq": { "hgvs": "NM_000052.7:c.2160T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345728.6:p.Cys720Ter" }, "RefSeq": { "hgvs": "NP_000043.4:p.Cys720Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 284, "endIntronDirection": "-", "endIntronOffset": 19737, "referenceAllele": "T", "start": 284, "startIntronDirection": "-", "startIntronOffset": 19738 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NR_104109.2:n.285-19738T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702930" }, { "@id": "http://reg.genome.network/allele/PA916012699", "coordinates": [ { "allele": "A", "end": 2324, "referenceAllele": "T", "start": 2323 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_001282224.2:c.2160T>A" ], "proteinEffect": { "hgvs": "NP_001269153.1:p.Cys720Ter", "hgvsWellDefined": "NP_001269153.1:p.Cys720_Leu1422delinsValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715769" } ], "type": "nucleotide" }