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"http://reg.genome.network/refseq/RS510757" }, { "@id": "http://reg.genome.network/allele/PA2827936785", "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "G", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_001354800.1:c.793G>T" ], "proteinEffect": { "hgvs": "NP_001341729.1:p.Glu265Ter", "hgvsWellDefined": 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"NP_277042.1:p.Glu266Ter", "hgvsWellDefined": "NP_277042.1:p.Glu266_Gln466delinsLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526401" }, { "@id": "http://reg.genome.network/allele/PA2830123573", "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.2:c.790G>T" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Glu264Ter", "hgvsWellDefined": "NP_277043.1:p.Glu264_Gln464delinsLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526402" }, { "coordinates": [ { "allele": "A", "end": 54, "referenceAllele": "C", "start": 53 } ], "hgvs": [ "XR_927223.2:n.54C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608497" }, { "@id": "http://reg.genome.network/allele/PA126215", "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "G", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.5:c.793G>T" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Glu265Ter", "hgvsWellDefined": "NP_000153.1:p.Glu265_Gln465delinsLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.793G>T" }, "RefSeq": { "hgvs": "NM_000162.5:c.793G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Glu265Ter" }, "RefSeq": { "hgvs": "NP_000153.1:p.Glu265Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645460290", "coordinates": [ { "allele": "T", "end": 958, "referenceAllele": "G", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.3:c.796G>T" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Glu266Ter", "hgvsWellDefined": "NP_277042.1:p.Glu266_Gln466delinsLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699364" }, { "@id": "http://reg.genome.network/allele/PA2830123573", "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.3:c.790G>T" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Glu264Ter", "hgvsWellDefined": "NP_277043.1:p.Glu264_Gln464delinsLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699365" } ], "type": "nucleotide" }