{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401367155", "communityStandardTitle": [ "NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972283[alleleid]", "alleleId": 972283, "preferredName": "NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983721", "RCV": [ "RCV001263724", "RCV001780215" ], "variationId": 983721 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78084635G>A?assembly=hg19", "id": "chr17:g.78084635G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80110836G>A?assembly=hg38", "id": "chr17:g.80110836G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2039217093", "rs": 2039217093 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 80110836, "referenceAllele": "G", "start": 80110835 } ], "hgvs": [ "NC_000017.11:g.80110836G>A", "CM000679.2:g.80110836G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78084635, "referenceAllele": "G", "start": 78084634 } ], "hgvs": [ "NC_000017.10:g.78084635G>A", "CM000679.1:g.78084635G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75699230, "referenceAllele": "G", "start": 75699229 } ], "hgvs": [ "NC_000017.9:g.75699230G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 14281, "referenceAllele": "G", "start": 14280 } ], "hgvs": [ "NG_009822.1:g.14281G>A", "LRG_673:g.14281G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001659" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "G", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000570803.6:c.1547G>A" ], "proteinEffect": { "hgvs": "ENSP00000460543.2:p.Trp516Ter", "hgvsWellDefined": "ENSP00000460543.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914319" }, { "coordinates": [ { "allele": "A", "end": 1702, "referenceAllele": "G", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000572080.2:c.1547G>A" ], "proteinEffect": { "hgvs": "ENSP00000459972.2:p.Trp516Ter", "hgvsWellDefined": "ENSP00000459972.2:p.Trp516_Ala630delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914321" }, { "coordinates": [ { "allele": "A", "end": 1744, "referenceAllele": "G", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000577106.6:c.1547G>A" ], "proteinEffect": { "hgvs": "ENSP00000458306.2:p.Trp516Ter", "hgvsWellDefined": "ENSP00000458306.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914323" }, { "coordinates": [ { "allele": "A", "end": 1889, "referenceAllele": "G", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000302262.8:c.1547G>A" ], "proteinEffect": { "hgvs": "ENSP00000305692.3:p.Trp516Ter", "hgvsWellDefined": "ENSP00000305692.3:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744924", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.1547G>A" }, "RefSeq": { "hgvs": "NM_000152.5:c.1547G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Trp516Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Trp516Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1766, "referenceAllele": "G", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000302262.7:c.1547G>A" ], "proteinEffect": { "hgvs": "ENSP00000305692.3:p.Trp516Ter", "hgvsWellDefined": "ENSP00000305692.3:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255143" }, { "coordinates": [ { "allele": "A", "end": 1691, "referenceAllele": "G", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000390015.7:c.1547G>A" ], "proteinEffect": { "hgvs": "ENSP00000374665.3:p.Trp516Ter", "hgvsWellDefined": "ENSP00000374665.3:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274344" }, { "@id": "http://reg.genome.network/allele/PA274283", "coordinates": [ { "allele": "A", "end": 1914, "referenceAllele": "G", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.3:c.1547G>A", "LRG_673t1:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Trp516Ter", "hgvsWellDefined": "NP_000143.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006214" }, { "@id": "http://reg.genome.network/allele/PA2825461755", "coordinates": [ { "allele": "A", "end": 1729, "referenceAllele": "G", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.1:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073271.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010088" }, { "@id": "http://reg.genome.network/allele/PA915964674", "coordinates": [ { "allele": "A", "end": 1649, "referenceAllele": "G", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.1:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073272.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010089" }, { "coordinates": [ { "allele": "A", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.1:c.1547G>A" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Trp516Ter", "hgvsWellDefined": "XP_005257250.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061613" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "G", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.3:c.1547G>A" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Trp516Ter", "hgvsWellDefined": "XP_005257251.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061614" }, { "@id": "http://reg.genome.network/allele/PA274283", "coordinates": [ { "allele": "A", "end": 1944, "referenceAllele": "G", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.4:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Trp516Ter", "hgvsWellDefined": "NP_000143.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510756" }, { "@id": "http://reg.genome.network/allele/PA2825461755", "coordinates": [ { "allele": "A", "end": 1759, "referenceAllele": "G", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.2:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073271.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511218" }, { "@id": "http://reg.genome.network/allele/PA915964674", "coordinates": [ { "allele": "A", "end": 1679, "referenceAllele": "G", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.2:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073272.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511219" }, { "coordinates": [ { "allele": "A", "end": 1745, "referenceAllele": "G", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.2:c.1547G>A" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Trp516Ter", "hgvsWellDefined": "XP_005257250.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534619" }, { "coordinates": [ { "allele": "A", "end": 1785, "referenceAllele": "G", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.4:c.1547G>A" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Trp516Ter", "hgvsWellDefined": "XP_005257251.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534620" }, { "@id": "http://reg.genome.network/allele/PA274283", "coordinates": [ { "allele": "A", "end": 1889, "referenceAllele": "G", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.5:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Trp516Ter", "hgvsWellDefined": "NP_000143.2:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662328", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.1547G>A" }, "RefSeq": { "hgvs": "NM_000152.5:c.1547G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Trp516Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Trp516Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825461755", "coordinates": [ { "allele": "A", "end": 1704, "referenceAllele": "G", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.3:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073271.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676219" }, { "@id": "http://reg.genome.network/allele/PA915964674", "coordinates": [ { "allele": "A", "end": 1624, "referenceAllele": "G", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.3:c.1547G>A" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Trp516Ter", "hgvsWellDefined": "NP_001073272.1:p.Trp516_Cys952delinsIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676220" } ], "type": "nucleotide" }