{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2842717615",
  "communityStandardTitle": [
    "NM_000162.5(GCK):c.486dup (p.Ile163HisfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 44150062,
          "referenceAllele": "",
          "start": 44150062
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44150062dup",
        "CM000669.2:g.44150062dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 44189661,
          "referenceAllele": "",
          "start": 44189661
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44189661dup",
        "CM000669.1:g.44189661dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 44156186,
          "referenceAllele": "",
          "start": 44156186
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44156186dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44362,
          "referenceAllele": "",
          "start": 44362
        }
      ],
      "hgvs": [
        "NG_008847.1:g.44362dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53109,
          "referenceAllele": "",
          "start": 53109
        }
      ],
      "hgvs": [
        "NG_008847.2:g.53109dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*484dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.4:n.*484dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.2:p.Ile163HisfsTer?",
        "hgvsWellDefined": "ENSP00000482149.2:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000682635.1:n.972dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "referenceAllele": "",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.489dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Ile164HisfsTer?",
        "hgvsWellDefined": "ENSP00000223366.2:p.[Ile164_Lys170delinsHisProSerGlnLeuAspGln;Phe172_Val183delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu185_Arg193delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Ile163HisfsTer?",
        "hgvsWellDefined": "ENSP00000384247.3:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.486dup"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.486dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Ile163HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Ile163HisfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500264.1:p.Ile163HisfsTer?",
        "hgvsWellDefined": "ENSP00000500264.1:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499852.1:p.Ile163HisfsTer?",
        "hgvsWellDefined": "ENSP00000499852.1:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "referenceAllele": "",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.489dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223366.2:p.Ile164HisfsTer?",
        "hgvsWellDefined": "ENSP00000223366.2:p.[Ile164_Lys170delinsHisProSerGlnLeuAspGln;Phe172_Val183delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu185_Arg193delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.483dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379142.3:p.Ile162HisfsTer?",
        "hgvsWellDefined": "ENSP00000379142.3:p.[Ile162_Lys168delinsHisProSerGlnLeuAspGln;Phe170_Val181delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu183_Arg191delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384247.3:p.Ile163HisfsTer?",
        "hgvsWellDefined": "ENSP00000384247.3:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 469,
          "referenceAllele": "",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.435dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402840.1:p.Ile146HisfsTer?",
        "hgvsWellDefined": "ENSP00000402840.1:p.[Ile146_Lys152delinsHisProSerGlnLeuAspGln;Phe154_Val165delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu167_Arg175delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "referenceAllele": "",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.483dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482149.1:p.Ile162HisfsTer?",
        "hgvsWellDefined": "ENSP00000482149.1:p.[Ile162_Lys168delinsHisProSerGlnLeuAspGln;Phe170_Val181delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu183_Arg191delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Ile163HisfsTer?",
        "hgvsWellDefined": "NP_000153.1:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "referenceAllele": "",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.489dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Ile164HisfsTer?",
        "hgvsWellDefined": "NP_277042.1:p.[Ile164_Lys170delinsHisProSerGlnLeuAspGln;Phe172_Val183delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu185_Arg193delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "referenceAllele": "",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.483dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Ile162HisfsTer?",
        "hgvsWellDefined": "NP_277043.1:p.[Ile162_Lys168delinsHisProSerGlnLeuAspGln;Phe170_Val181delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu183_Arg191delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Ile163HisfsTer?",
        "hgvsWellDefined": "NP_000153.1:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341729.1:p.Ile163HisfsTer?",
        "hgvsWellDefined": "NP_001341729.1:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "referenceAllele": "",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.489dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Ile164HisfsTer?",
        "hgvsWellDefined": "NP_277042.1:p.[Ile164_Lys170delinsHisProSerGlnLeuAspGln;Phe172_Val183delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu185_Arg193delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.483dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Ile162HisfsTer?",
        "hgvsWellDefined": "NP_277043.1:p.[Ile162_Lys168delinsHisProSerGlnLeuAspGln;Phe170_Val181delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu183_Arg191delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.486dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000153.1:p.Ile163HisfsTer?",
        "hgvsWellDefined": "NP_000153.1:p.[Ile163_Lys169delinsHisProSerGlnLeuAspGln;Phe171_Val182delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu184_Arg192delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403799.8:c.486dup"
          },
          "RefSeq": {
            "hgvs": "NM_000162.5:c.486dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384247.3:p.Ile163HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000153.1:p.Ile163HisfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "referenceAllele": "",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.489dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_277042.1:p.Ile164HisfsTer?",
        "hgvsWellDefined": "NP_277042.1:p.[Ile164_Lys170delinsHisProSerGlnLeuAspGln;Phe172_Val183delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu185_Arg193delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.483dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_277043.1:p.Ile162HisfsTer?",
        "hgvsWellDefined": "NP_277043.1:p.[Ile162_Lys168delinsHisProSerGlnLeuAspGln;Phe170_Val181delinsLeuGlnGlyLeuArgSerArgArgGluGlnCysArg;Leu183_Arg191delinsAlaSerAlaArgArgTyrGlnThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    }
  ],
  "type": "nucleotide"
}