{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277215", "communityStandardTitle": [ "NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209225[alleleid]", "alleleId": 209225, "preferredName": "NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210400", "RCV": [ "RCV000193862" ], "variationId": 210400 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77264722G>T?assembly=hg19", "id": "chrX:g.77264722G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.78009225G>T?assembly=hg38", "id": "chrX:g.78009225G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/797045337", "rs": 797045337 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 78009225, "referenceAllele": "G", "start": 78009224 } ], "hgvs": [ "NC_000023.11:g.78009225G>T", "CM000685.2:g.78009225G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 77264722, "referenceAllele": "G", "start": 77264721 } ], "hgvs": [ "NC_000023.10:g.77264722G>T", "CM000685.1:g.77264722G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 77151378, "referenceAllele": "G", "start": 77151377 } ], "hgvs": [ "NC_000023.9:g.77151378G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 103529, "referenceAllele": "G", "start": 103528 } ], "hgvs": [ "NG_013224.2:g.103529G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002729" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "G", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000343533.10:c.1861G>T" ], "proteinEffect": { "hgvs": "ENSP00000343026.6:p.Glu621Ter", "hgvsWellDefined": "ENSP00000343026.6:p.Glu621_Leu1510delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824031" }, { "coordinates": [ { "allele": "T", "end": 1993, "referenceAllele": "G", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000682742.2:n.1993G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827731" }, { "coordinates": [ { "allele": "T", "end": 2023, "referenceAllele": "G", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000685264.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000510136.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000510136.1:p.Glu611_Leu1500delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829973" }, { "coordinates": [ { "allele": "T", "end": 1865, "referenceAllele": "G", "start": 1864 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000685434.1:n.1865G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830073" }, { "coordinates": [ { "allele": "T", "end": 1949, "referenceAllele": "G", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686033.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000510693.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000510693.1:p.Glu611_Leu1435delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830367" }, { "coordinates": [ { "allele": "T", "end": 2002, "referenceAllele": "G", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686133.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000509233.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000509233.1:p.Glu611_Leu1500delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830415" }, { "coordinates": [ { "allele": "T", "end": 2185, "referenceAllele": "G", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686416.1:n.2185G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830559" }, { "coordinates": [ { "allele": "T", "end": 1949, "referenceAllele": "G", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686480.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000508978.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000508978.1:p.Glu611_Phe766delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830601" }, { "coordinates": [ { "allele": "T", "end": 1971, "referenceAllele": "G", "start": 1970 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686515.1:n.1971G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830609" }, { "coordinates": [ { "allele": "T", "end": 1949, "referenceAllele": "G", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686543.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000509477.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000509477.1:p.Glu611_Leu1422delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830623" }, { "coordinates": [ { "allele": "T", "end": 1993, "referenceAllele": "G", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686688.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000509416.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000509416.1:p.Glu611_Thr929delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830699" }, { "coordinates": [ { "allele": "T", "end": 2142, "referenceAllele": "G", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686999.1:n.2142G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830855" }, { "coordinates": [ { "allele": "T", "end": 2144, "referenceAllele": "G", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000687086.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000509566.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000509566.1:p.Glu611_Leu1500delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830901" }, { "coordinates": [ { "allele": "T", "end": 1932, "referenceAllele": "G", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000687628.1:n.1932G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831183" }, { "coordinates": [ { "allele": "T", "end": 1983, "referenceAllele": "G", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000688746.1:n.1983G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831794" }, { "coordinates": [ { "allele": "T", "end": 2165, "referenceAllele": "G", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689530.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000509707.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000509707.1:p.Glu611_Pro972del" }, "referenceSequence": "http://reg.genome.network/refseq/RS832222" }, { "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "G", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689541.1:n.2140G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832230" }, { "coordinates": [ { "allele": "T", "end": 1949, "referenceAllele": "G", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689649.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000509277.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000509277.1:p.Glu611_Phe844delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832281" }, { "coordinates": [ { "allele": "T", "end": 2072, "referenceAllele": "G", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689767.1:c.1924G>T" ], "proteinEffect": { "hgvs": "ENSP00000509406.1:p.Glu642Ter", "hgvsWellDefined": "ENSP00000509406.1:p.Glu642_Leu1531delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832351" }, { "coordinates": [ { "allele": "T", "end": 4523, "referenceAllele": "G", "start": 4522 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689872.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000509373.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000509373.1:p.Glu611_Pro657delinsIleIleGlyProArgAspIleIleHisThrIleGluMetGluThrValPheSerCysGluSerValPheLeuTyrSerCysAsnGlyAlaAspAspIleTyrAspGlyTyrGlyProProLeuCysAsnSerSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832417" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "G", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000692110.1:c.1747G>T" ], "proteinEffect": { "hgvs": "ENSP00000509366.1:p.Glu583Ter", "hgvsWellDefined": "ENSP00000509366.1:p.Glu583_Gln696del" }, "referenceSequence": "http://reg.genome.network/refseq/RS833547" }, { "coordinates": [ { "allele": "T", "end": 2141, "referenceAllele": "G", "start": 2140 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000692908.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000508627.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000508627.1:p.Glu611_Leu1422delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833947" }, { "coordinates": [ { "allele": "T", "end": 2091, "referenceAllele": "G", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000693387.1:c.*1760G>T" ], "proteinEffect": { "hgvs": "ENSP00000508732.1:n.*1760G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS834219" }, { "coordinates": [ { "allele": "T", "end": 1947, "referenceAllele": "G", "start": 1946 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000693398.1:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000510089.1:p.Glu611Ter", "hgvsWellDefined": "ENSP00000510089.1:p.Glu611_Thr929delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834228" }, { "coordinates": [ { "allele": "T", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000341514.11:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000345728.6:p.Glu611Ter", "hgvsWellDefined": "ENSP00000345728.6:p.Glu611_Leu1500delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341514.11:c.1831G>T" }, "RefSeq": { "hgvs": "NM_000052.7:c.1831G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345728.6:p.Glu611Ter" }, "RefSeq": { "hgvs": "NP_000043.4:p.Glu611Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 97, "endIntronDirection": "+", "endIntronOffset": 98390, "referenceAllele": "G", "start": 97, "startIntronDirection": "+", "startIntronOffset": 98389 } ], "gene": "http://reg.genome.network/gene/GN008896", "geneNCBI_id": 5230, "geneSymbol": "PGK1", "hgvs": [ "ENST00000644362.1:c.-20+98390G>T" ], "proteinEffect": { "hgvs": "ENSP00000496140.1:n.-20+98390G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767780" }, { "coordinates": [ { "allele": "T", "end": 2012, "referenceAllele": "G", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000645094.1:c.*1745G>T" ], "proteinEffect": { "hgvs": "ENSP00000493605.1:n.*1745G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768168" }, { "coordinates": [ { "allele": "T", "end": 1986, "referenceAllele": "G", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000341514.10:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000345728.6:p.Glu611Ter", "hgvsWellDefined": "ENSP00000345728.6:p.Glu611_Leu1500delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261356" }, { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "G", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000343533.9:c.1831G>T" ], "proteinEffect": { "hgvs": "ENSP00000343026.5:p.Glu611Ter", "hgvsWellDefined": "ENSP00000343026.5:p.Glu611_Leu1422delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261784" }, { "coordinates": [ { "allele": "T", "end": 1959, "referenceAllele": "G", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000350425.5:c.*1004G>T" ], "proteinEffect": { "hgvs": "ENSP00000343678.5:n.*1004G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS262680" }, { "@id": "http://reg.genome.network/allele/PA277216", "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "G", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_000052.6:c.1831G>T" ], "proteinEffect": { "hgvs": "NP_000043.4:p.Glu611Ter", "hgvsWellDefined": "NP_000043.4:p.Glu611_Leu1500delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006117" }, { "@id": "http://reg.genome.network/allele/PA916012659", "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "G", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_001282224.1:c.1831G>T" ], "proteinEffect": { "hgvs": "NP_001269153.1:p.Glu611Ter", "hgvsWellDefined": "NP_001269153.1:p.Glu611_Leu1422delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021822" }, { "coordinates": [ { "allele": "T", "end": 321, "endIntronDirection": "-", "endIntronOffset": 22174, "referenceAllele": "G", "start": 321, "startIntronDirection": "-", "startIntronOffset": 22175 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NR_104109.1:n.322-22175G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053210" }, { "@id": "http://reg.genome.network/allele/PA277216", "coordinates": [ { "allele": "T", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_000052.7:c.1831G>T" ], "proteinEffect": { "hgvs": "NP_000043.4:p.Glu611Ter", "hgvsWellDefined": "NP_000043.4:p.Glu611_Leu1500delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662302", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341514.11:c.1831G>T" }, "RefSeq": { "hgvs": "NM_000052.7:c.1831G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345728.6:p.Glu611Ter" }, "RefSeq": { "hgvs": "NP_000043.4:p.Glu611Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 284, "endIntronDirection": "-", "endIntronOffset": 22174, "referenceAllele": "G", "start": 284, "startIntronDirection": "-", "startIntronOffset": 22175 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NR_104109.2:n.285-22175G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702930" }, { "@id": "http://reg.genome.network/allele/PA916012659", "coordinates": [ { "allele": "T", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_001282224.2:c.1831G>T" ], "proteinEffect": { "hgvs": "NP_001269153.1:p.Glu611Ter", "hgvsWellDefined": "NP_001269153.1:p.Glu611_Leu1422delinsIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715769" } ], "type": "nucleotide" }