{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401363984", "communityStandardTitle": [ "NM_000152.5(GAA):c.904G>T (p.Glu302Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972281[alleleid]", "alleleId": 972281, "preferredName": "NM_000152.5(GAA):c.904G>T (p.Glu302Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983719", "RCV": [ "RCV001263722" ], "variationId": 983719 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78081644G>T?assembly=hg19", "id": "chr17:g.78081644G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80107845G>T?assembly=hg38", "id": "chr17:g.80107845G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2039131123", "rs": 2039131123 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 80107845, "referenceAllele": "G", "start": 80107844 } ], "hgvs": [ "NC_000017.11:g.80107845G>T", "CM000679.2:g.80107845G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 78081644, "referenceAllele": "G", "start": 78081643 } ], "hgvs": [ "NC_000017.10:g.78081644G>T", "CM000679.1:g.78081644G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75696239, "referenceAllele": "G", "start": 75696238 } ], "hgvs": [ "NC_000017.9:g.75696239G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 11290, "referenceAllele": "G", "start": 11289 } ], "hgvs": [ "NG_009822.1:g.11290G>T", "LRG_673:g.11290G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001659" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "G", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000570803.6:c.904G>T" ], "proteinEffect": { "hgvs": "ENSP00000460543.2:p.Glu302Ter", "hgvsWellDefined": "ENSP00000460543.2:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914319" }, { "coordinates": [ { "allele": "T", "end": 1059, "referenceAllele": "G", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000572080.2:c.904G>T" ], "proteinEffect": { "hgvs": "ENSP00000459972.2:p.Glu302Ter", "hgvsWellDefined": "ENSP00000459972.2:p.Glu302_Ala630delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914321" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "G", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000577106.6:c.904G>T" ], "proteinEffect": { "hgvs": "ENSP00000458306.2:p.Glu302Ter", "hgvsWellDefined": "ENSP00000458306.2:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914323" }, { "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000302262.8:c.904G>T" ], "proteinEffect": { "hgvs": "ENSP00000305692.3:p.Glu302Ter", "hgvsWellDefined": "ENSP00000305692.3:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744924", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.904G>T" }, "RefSeq": { "hgvs": "NM_000152.5:c.904G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Glu302Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Glu302Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1123, "referenceAllele": "G", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000302262.7:c.904G>T" ], "proteinEffect": { "hgvs": "ENSP00000305692.3:p.Glu302Ter", "hgvsWellDefined": "ENSP00000305692.3:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255143" }, { "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "G", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000390015.7:c.904G>T" ], "proteinEffect": { "hgvs": "ENSP00000374665.3:p.Glu302Ter", "hgvsWellDefined": "ENSP00000374665.3:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274344" }, { "@id": "http://reg.genome.network/allele/PA2825065377", "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "G", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.3:c.904G>T", "LRG_673t1:c.904G>T" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Glu302Ter", "hgvsWellDefined": "NP_000143.2:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006214" }, { "@id": "http://reg.genome.network/allele/PA2825460735", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.1:c.904G>T" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Glu302Ter", "hgvsWellDefined": "NP_001073271.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010088" }, { "@id": "http://reg.genome.network/allele/PA1139670828", "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "G", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.1:c.904G>T" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Glu302Ter", "hgvsWellDefined": "NP_001073272.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010089" }, { "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "G", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.1:c.904G>T" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Glu302Ter", "hgvsWellDefined": "XP_005257250.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061613" }, { "coordinates": [ { "allele": "T", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.3:c.904G>T" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Glu302Ter", "hgvsWellDefined": "XP_005257251.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061614" }, { "@id": "http://reg.genome.network/allele/PA2825065377", "coordinates": [ { "allele": "T", "end": 1301, "referenceAllele": "G", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.4:c.904G>T" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Glu302Ter", "hgvsWellDefined": "NP_000143.2:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510756" }, { "@id": "http://reg.genome.network/allele/PA2825460735", "coordinates": [ { "allele": "T", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.2:c.904G>T" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Glu302Ter", "hgvsWellDefined": "NP_001073271.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511218" }, { "@id": "http://reg.genome.network/allele/PA1139670828", "coordinates": [ { "allele": "T", "end": 1036, "referenceAllele": "G", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.2:c.904G>T" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Glu302Ter", "hgvsWellDefined": "NP_001073272.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511219" }, { "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "G", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.2:c.904G>T" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Glu302Ter", "hgvsWellDefined": "XP_005257250.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534619" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "G", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.4:c.904G>T" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Glu302Ter", "hgvsWellDefined": "XP_005257251.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534620" }, { "@id": "http://reg.genome.network/allele/PA2825065377", "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.5:c.904G>T" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Glu302Ter", "hgvsWellDefined": "NP_000143.2:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662328", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.904G>T" }, "RefSeq": { "hgvs": "NM_000152.5:c.904G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Glu302Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Glu302Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825460735", "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "G", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.3:c.904G>T" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Glu302Ter", "hgvsWellDefined": "NP_001073271.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676219" }, { "@id": "http://reg.genome.network/allele/PA1139670828", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.3:c.904G>T" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Glu302Ter", "hgvsWellDefined": "NP_001073272.1:p.Glu302_Cys952delinsAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676220" } ], "type": "nucleotide" }