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"startIntronDirection": "-", "startIntronOffset": 447 } ], "hgvs": [ "XR_947632.1:n.1136-447T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS141212" }, { "coordinates": [ { "allele": "A", "end": 1246, "endIntronDirection": "-", "endIntronOffset": 446, "referenceAllele": "T", "start": 1246, "startIntronDirection": "-", "startIntronOffset": 447 } ], "hgvs": [ "XR_947633.1:n.1247-447T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS141213" }, { "coordinates": [ { "allele": "A", "end": 660, "endIntronDirection": "-", "endIntronOffset": 446, "referenceAllele": "T", "start": 660, "startIntronDirection": "-", "startIntronOffset": 447 } ], "hgvs": [ "XR_947634.1:n.661-447T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS141214" }, { "coordinates": [ { "allele": "A", "end": 728, "endIntronDirection": "-", "endIntronOffset": 446, "referenceAllele": "T", "start": 728, "startIntronDirection": "-", "startIntronOffset": 447 } ], "hgvs": [ "XR_947635.1:n.729-447T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS141215" }, { "coordinates": [ { "allele": "T", "end": 4180, "referenceAllele": "A", "start": 4179 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.2:c.4087A>T" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Lys1363Ter", "hgvsWellDefined": "XP_005270614.1:p.Lys1363_Leu1532delinsAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536956" }, { "coordinates": [ { "allele": "T", "end": 2415, "referenceAllele": "A", "start": 2414 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_017000501.2:c.2347A>T" ], "proteinEffect": { "hgvs": "XP_016855990.1:p.Lys783Ter", "hgvsWellDefined": "XP_016855990.1:p.Lys783_Leu952delinsAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556866" }, { "@id": "http://reg.genome.network/allele/PA2825219728", "coordinates": [ { "allele": "T", "end": 4210, "referenceAllele": "A", "start": 4209 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.3:c.4087A>T" ], "proteinEffect": { "hgvs": "NP_000633.2:p.Lys1363Ter", "hgvsWellDefined": "NP_000633.2:p.Lys1363_Leu1532delinsAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662520", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.4087A>T" }, "RefSeq": { "hgvs": "NM_000642.3:c.4087A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Lys1363Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Lys1363Ter" } } } } ], "type": "nucleotide" }