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"end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_017026580.1:c.478C>T" ], "proteinEffect": { "hgvs": "XP_016882069.1:p.Gln160Ter", "hgvsWellDefined": "XP_016882069.1:p.Gln160_Arg442delinsArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576706" }, { "@id": "http://reg.genome.network/allele/PA2825069897", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.4:c.478C>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Gln160Ter", "hgvsWellDefined": "NP_000150.1:p.Gln160_Lys438delinsArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662332", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.478C>T" }, "RefSeq": { "hgvs": "NM_000159.4:c.478C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Gln160Ter" }, "RefSeq": { "hgvs": "NP_000150.1:p.Gln160Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139728820", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.4:c.478C>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Gln160Ter", "hgvsWellDefined": "NP_039663.1:p.Gln160_Leu428delinsArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697153" }, { "@id": "http://reg.genome.network/allele/PA1139728820", "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.5:c.478C>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Gln160Ter", "hgvsWellDefined": "NP_039663.1:p.Gln160_Leu428delinsArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727927" } ], "type": "nucleotide" }