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"NP_277043.1:p.Arg185_Gln464delinsAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039779" }, { "@id": "http://reg.genome.network/allele/PA126210", "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.4:c.556C>T" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Arg186Ter", "hgvsWellDefined": "NP_000153.1:p.Arg186_Gln465delinsAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510757" }, { "@id": "http://reg.genome.network/allele/PA2827936625", "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_001354800.1:c.556C>T" ], "proteinEffect": { "hgvs": "NP_001341729.1:p.Arg186Ter", "hgvsWellDefined": "NP_001341729.1:p.Arg186_Ala456delinsAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522689" }, { "@id": "http://reg.genome.network/allele/PA645459542", "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.2:c.559C>T" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Arg187Ter", "hgvsWellDefined": "NP_277042.1:p.Arg187_Gln466delinsAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526401" }, { "@id": "http://reg.genome.network/allele/PA2830123269", "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.2:c.553C>T" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Arg185Ter", "hgvsWellDefined": "NP_277043.1:p.Arg185_Gln464delinsAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526402" }, { "@id": "http://reg.genome.network/allele/PA126210", "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.5:c.556C>T" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Arg186Ter", "hgvsWellDefined": "NP_000153.1:p.Arg186_Gln465delinsAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.556C>T" }, "RefSeq": { "hgvs": "NM_000162.5:c.556C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Arg186Ter" }, "RefSeq": { "hgvs": "NP_000153.1:p.Arg186Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645459542", "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.3:c.559C>T" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Arg187Ter", "hgvsWellDefined": "NP_277042.1:p.Arg187_Gln466delinsAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699364" }, { "@id": "http://reg.genome.network/allele/PA2830123269", "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.3:c.553C>T" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Arg185Ter", "hgvsWellDefined": "NP_277043.1:p.Arg185_Gln464delinsAspAlaIleLysArgArgGlyAspPheGluMetAspValValAlaMetValAsnAspThrValAlaThrMetIleSerCysTyrTyrGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699365" } ], "type": "nucleotide" }