{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401325116", "communityStandardTitle": [ "NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6386469", "active": true, "id": "COSM6386469" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548817[alleleid]", "alleleId": 548817, "preferredName": "NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552368", "RCV": [ "RCV000667612", "RCV001784249" ], "variationId": 552368 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78091474C>T?assembly=hg19", "id": "chr17:g.78091474C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80117675C>T?assembly=hg38", "id": "chr17:g.80117675C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1344266804", "rs": 1344266804 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78091474-C-T?dataset=gnomad_r2_1", "id": "17-78091474-C-T", "variant": "17:78091474 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80117675-C-T?dataset=gnomad_r3", "id": "17-80117675-C-T", "variant": "17:80117675 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80117675-C-T?dataset=gnomad_r4", "id": "17-80117675-C-T", "variant": "17:80117675 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 80117675, "referenceAllele": "C", "start": 80117674 } ], "hgvs": [ "NC_000017.11:g.80117675C>T", "CM000679.2:g.80117675C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 78091474, "referenceAllele": "C", "start": 78091473 } ], "hgvs": [ "NC_000017.10:g.78091474C>T", "CM000679.1:g.78091474C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75706069, "referenceAllele": "C", "start": 75706068 } ], "hgvs": [ "NC_000017.9:g.75706069C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 21120, "referenceAllele": "C", "start": 21119 } ], "hgvs": [ "NG_009822.1:g.21120C>T", "LRG_673:g.21120C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001659" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2532, "referenceAllele": "C", "start": 2531 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000570803.6:c.2407C>T" ], "proteinEffect": { "hgvs": "ENSP00000460543.2:p.Gln803Ter", "hgvsWellDefined": "ENSP00000460543.2:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914319" }, { "coordinates": [ { "allele": "T", "end": 2593, "referenceAllele": "C", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000572080.2:c.*545C>T" ], "proteinEffect": { "hgvs": "ENSP00000459972.2:n.*545C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914321" }, { "coordinates": [ { "allele": "T", "end": 2604, "referenceAllele": "C", "start": 2603 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000577106.6:c.2407C>T" ], "proteinEffect": { "hgvs": "ENSP00000458306.2:p.Gln803Ter", "hgvsWellDefined": "ENSP00000458306.2:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914323" }, { "coordinates": [ { "allele": "T", "end": 2749, "referenceAllele": "C", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000302262.8:c.2407C>T" ], "proteinEffect": { "hgvs": "ENSP00000305692.3:p.Gln803Ter", "hgvsWellDefined": "ENSP00000305692.3:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744924", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.2407C>T" }, "RefSeq": { "hgvs": "NM_000152.5:c.2407C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Gln803Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Gln803Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2626, "referenceAllele": "C", "start": 2625 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000302262.7:c.2407C>T" ], "proteinEffect": { "hgvs": "ENSP00000305692.3:p.Gln803Ter", "hgvsWellDefined": "ENSP00000305692.3:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255143" }, { "coordinates": [ { "allele": "T", "end": 2551, "referenceAllele": "C", "start": 2550 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000390015.7:c.2407C>T" ], "proteinEffect": { "hgvs": "ENSP00000374665.3:p.Gln803Ter", "hgvsWellDefined": "ENSP00000374665.3:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274344" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "ENST00000573556.1:n.360C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS383335" }, { "@id": "http://reg.genome.network/allele/PA658826292", "coordinates": [ { "allele": "T", "end": 2774, "referenceAllele": "C", "start": 2773 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.3:c.2407C>T", "LRG_673t1:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Gln803Ter", "hgvsWellDefined": "NP_000143.2:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006214" }, { "@id": "http://reg.genome.network/allele/PA2825463061", "coordinates": [ { "allele": "T", "end": 2589, "referenceAllele": "C", "start": 2588 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.1:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Gln803Ter", "hgvsWellDefined": "NP_001073271.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010088" }, { "@id": "http://reg.genome.network/allele/PA915964900", "coordinates": [ { "allele": "T", "end": 2509, "referenceAllele": "C", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.1:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Gln803Ter", "hgvsWellDefined": "NP_001073272.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010089" }, { "coordinates": [ { "allele": "T", "end": 2620, "referenceAllele": "C", "start": 2619 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.1:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Gln803Ter", "hgvsWellDefined": "XP_005257250.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061613" }, { "coordinates": [ { "allele": "T", "end": 2649, "referenceAllele": "C", "start": 2648 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.3:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Gln803Ter", "hgvsWellDefined": "XP_005257251.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061614" }, { "@id": "http://reg.genome.network/allele/PA658826292", "coordinates": [ { "allele": "T", "end": 2804, "referenceAllele": "C", "start": 2803 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.4:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Gln803Ter", "hgvsWellDefined": "NP_000143.2:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510756" }, { "@id": "http://reg.genome.network/allele/PA2825463061", "coordinates": [ { "allele": "T", "end": 2619, "referenceAllele": "C", "start": 2618 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.2:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Gln803Ter", "hgvsWellDefined": "NP_001073271.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511218" }, { "@id": "http://reg.genome.network/allele/PA915964900", "coordinates": [ { "allele": "T", "end": 2539, "referenceAllele": "C", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.2:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Gln803Ter", "hgvsWellDefined": "NP_001073272.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511219" }, { "coordinates": [ { "allele": "T", "end": 2605, "referenceAllele": "C", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257193.2:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_005257250.1:p.Gln803Ter", "hgvsWellDefined": "XP_005257250.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534619" }, { "coordinates": [ { "allele": "T", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "XM_005257194.4:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_005257251.1:p.Gln803Ter", "hgvsWellDefined": "XP_005257251.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534620" }, { "@id": "http://reg.genome.network/allele/PA658826292", "coordinates": [ { "allele": "T", "end": 2749, "referenceAllele": "C", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_000152.5:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_000143.2:p.Gln803Ter", "hgvsWellDefined": "NP_000143.2:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662328", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000302262.8:c.2407C>T" }, "RefSeq": { "hgvs": "NM_000152.5:c.2407C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000305692.3:p.Gln803Ter" }, "RefSeq": { "hgvs": "NP_000143.2:p.Gln803Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825463061", "coordinates": [ { "allele": "T", "end": 2564, "referenceAllele": "C", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079803.3:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_001073271.1:p.Gln803Ter", "hgvsWellDefined": "NP_001073271.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676219" }, { "@id": "http://reg.genome.network/allele/PA915964900", "coordinates": [ { "allele": "T", "end": 2484, "referenceAllele": "C", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN004065", "geneNCBI_id": 2548, "geneSymbol": "GAA", "hgvs": [ "NM_001079804.3:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_001073272.1:p.Gln803Ter", "hgvsWellDefined": "NP_001073272.1:p.Gln803_Cys952delinsTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676220" } ], "type": "nucleotide" }