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} ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000645.2:c.3742G>T" ], "proteinEffect": { "hgvs": "NP_000636.2:p.Glu1248Ter", "hgvsWellDefined": "NP_000636.2:p.Glu1248_Leu1515delinsSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006696" }, { "@id": "http://reg.genome.network/allele/PA2825234229", "coordinates": [ { "allele": "T", "end": 4004, "referenceAllele": "G", "start": 4003 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000646.2:c.3745G>T" ], "proteinEffect": { "hgvs": "NP_000637.2:p.Glu1249Ter", "hgvsWellDefined": "NP_000637.2:p.Glu1249_Leu1516delinsSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006697" }, { "coordinates": [ { "allele": "T", "end": 3886, "referenceAllele": "G", "start": 3885 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.1:c.3793G>T" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Glu1265Ter", "hgvsWellDefined": "XP_005270614.1:p.Glu1265_Leu1532delinsSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066566" }, { "coordinates": [ { "allele": "T", "end": 3886, "referenceAllele": "G", "start": 3885 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.2:c.3793G>T" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Glu1265Ter", "hgvsWellDefined": "XP_005270614.1:p.Glu1265_Leu1532delinsSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536956" }, { "coordinates": [ { "allele": "T", "end": 2121, "referenceAllele": "G", "start": 2120 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_017000501.2:c.2053G>T" ], "proteinEffect": { "hgvs": "XP_016855990.1:p.Glu685Ter", "hgvsWellDefined": "XP_016855990.1:p.Glu685_Leu952delinsSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556866" }, { "@id": "http://reg.genome.network/allele/PA2825219336", "coordinates": [ { "allele": "T", "end": 3916, "referenceAllele": "G", "start": 3915 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.3:c.3793G>T" ], "proteinEffect": { "hgvs": "NP_000633.2:p.Glu1265Ter", "hgvsWellDefined": "NP_000633.2:p.Glu1265_Leu1532delinsSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662520", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.3793G>T" }, "RefSeq": { "hgvs": "NM_000642.3:c.3793G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Glu1265Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Glu1265Ter" } } } } ], "type": "nucleotide" }