{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580077187",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.490del (p.Leu164PhefsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2108444[alleleid]",
        "alleleId": 2108444,
        "preferredName": "NM_000162.5(GCK):c.490del (p.Leu164fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2053147",
        "RCV": [
          "RCV002919002"
        ],
        "variationId": 2053147
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2484524472",
        "rs": 2484524472
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 44150059,
          "referenceAllele": "G",
          "start": 44150058
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44150059del",
        "CM000669.2:g.44150059del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 44189658,
          "referenceAllele": "G",
          "start": 44189657
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44189658del",
        "CM000669.1:g.44189658del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 44156183,
          "referenceAllele": "G",
          "start": 44156182
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44156183del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 44366,
          "referenceAllele": "C",
          "start": 44365
        }
      ],
      "hgvs": [
        "NG_008847.1:g.44366del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53113,
          "referenceAllele": "C",
          "start": 53112
        }
      ],
      "hgvs": [
        "NG_008847.2:g.53113del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*488del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*488del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:p.Leu164PhefsTer?",
        "hgvsWellDefined": "ENSP00000482149.2:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000682635.1:n.976del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.493del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Leu165PhefsTer?",
        "hgvsWellDefined": "ENSP00000223366.2:p.[Leu165_Trp168delinsPheSer;Lys170del;Phe172_Lys173delinsProArg;Gly176_Ala177delinsArgProGln;Glu178_Gly179insGlnLys;Asn180_Val183delinsThrMetSerTrp;Leu185_Arg193delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Leu164PhefsTer?",
        "hgvsWellDefined": "ENSP00000384247.3:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.490del"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.490del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Leu164PhefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Leu164PhefsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:p.Leu164PhefsTer?",
        "hgvsWellDefined": "ENSP00000500264.1:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:p.Leu164PhefsTer?",
        "hgvsWellDefined": "ENSP00000499852.1:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.493del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Leu165PhefsTer?",
        "hgvsWellDefined": "ENSP00000223366.2:p.[Leu165_Trp168delinsPheSer;Lys170del;Phe172_Lys173delinsProArg;Gly176_Ala177delinsArgProGln;Glu178_Gly179insGlnLys;Asn180_Val183delinsThrMetSerTrp;Leu185_Arg193delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.487del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:p.Leu163PhefsTer?",
        "hgvsWellDefined": "ENSP00000379142.3:p.[Leu163_Trp166delinsPheSer;Lys168del;Phe170_Lys171delinsProArg;Gly174_Ala175delinsArgProGln;Glu176_Gly177insGlnLys;Asn178_Val181delinsThrMetSerTrp;Leu183_Arg191delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Leu164PhefsTer?",
        "hgvsWellDefined": "ENSP00000384247.3:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.439del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:p.Leu147PhefsTer?",
        "hgvsWellDefined": "ENSP00000402840.1:p.[Leu147_Trp150delinsPheSer;Lys152del;Phe154_Lys155delinsProArg;Gly158_Ala159delinsArgProGln;Glu160_Gly161insGlnLys;Asn162_Val165delinsThrMetSerTrp;Leu167_Arg175delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.487del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:p.Leu163PhefsTer?",
        "hgvsWellDefined": "ENSP00000482149.1:p.[Leu163_Trp166delinsPheSer;Lys168del;Phe170_Lys171delinsProArg;Gly174_Ala175delinsArgProGln;Glu176_Gly177insGlnLys;Asn178_Val181delinsThrMetSerTrp;Leu183_Arg191delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Leu164PhefsTer?",
        "hgvsWellDefined": "NP_000153.1:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.493del"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Leu165PhefsTer?",
        "hgvsWellDefined": "NP_277042.1:p.[Leu165_Trp168delinsPheSer;Lys170del;Phe172_Lys173delinsProArg;Gly176_Ala177delinsArgProGln;Glu178_Gly179insGlnLys;Asn180_Val183delinsThrMetSerTrp;Leu185_Arg193delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.487del"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Leu163PhefsTer?",
        "hgvsWellDefined": "NP_277043.1:p.[Leu163_Trp166delinsPheSer;Lys168del;Phe170_Lys171delinsProArg;Gly174_Ala175delinsArgProGln;Glu176_Gly177insGlnLys;Asn178_Val181delinsThrMetSerTrp;Leu183_Arg191delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Leu164PhefsTer?",
        "hgvsWellDefined": "NP_000153.1:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:p.Leu164PhefsTer?",
        "hgvsWellDefined": "NP_001341729.1:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.493del"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Leu165PhefsTer?",
        "hgvsWellDefined": "NP_277042.1:p.[Leu165_Trp168delinsPheSer;Lys170del;Phe172_Lys173delinsProArg;Gly176_Ala177delinsArgProGln;Glu178_Gly179insGlnLys;Asn180_Val183delinsThrMetSerTrp;Leu185_Arg193delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.487del"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Leu163PhefsTer?",
        "hgvsWellDefined": "NP_277043.1:p.[Leu163_Trp166delinsPheSer;Lys168del;Phe170_Lys171delinsProArg;Gly174_Ala175delinsArgProGln;Glu176_Gly177insGlnLys;Asn178_Val181delinsThrMetSerTrp;Leu183_Arg191delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Leu164PhefsTer?",
        "hgvsWellDefined": "NP_000153.1:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.490del"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.490del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Leu164PhefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Leu164PhefsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.493del"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Leu165PhefsTer?",
        "hgvsWellDefined": "NP_277042.1:p.[Leu165_Trp168delinsPheSer;Lys170del;Phe172_Lys173delinsProArg;Gly176_Ala177delinsArgProGln;Glu178_Gly179insGlnLys;Asn180_Val183delinsThrMetSerTrp;Leu185_Arg193delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.487del"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Leu163PhefsTer?",
        "hgvsWellDefined": "NP_277043.1:p.[Leu163_Trp166delinsPheSer;Lys168del;Phe170_Lys171delinsProArg;Gly174_Ala175delinsArgProGln;Glu176_Gly177insGlnLys;Asn178_Val181delinsThrMetSerTrp;Leu183_Arg191delinsPheCysGluThrLeuSerAsnGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    }
  ],
  "type": "nucleotide"
}