{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658655969",
  "communityStandardTitle": [
    "NC_000007.14:g.44150065del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441113[alleleid]",
        "alleleId": 441113,
        "preferredName": "NM_033507.2(GCK):c.488del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447407",
        "RCV": [
          "RCV000516477",
          "RCV002463701"
        ],
        "variationId": 447407
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44189662del?assembly=hg19",
        "id": "chr7:g.44189662del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.44150063del?assembly=hg38",
        "id": "chr7:g.44150063del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1246464603",
        "rs": 1246464603
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-44150062-GC-G?dataset=gnomad_r3",
        "id": "7-44150062-GC-G",
        "variant": "7:44150062 GC / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-44150062-GC-G?dataset=gnomad_r4",
        "id": "7-44150062-GC-G",
        "variant": "7:44150062 GC / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 44150065,
          "referenceAllele": "C",
          "start": 44150064
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44150065del",
        "CM000669.2:g.44150065del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 44189664,
          "referenceAllele": "C",
          "start": 44189663
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44189664del",
        "CM000669.1:g.44189664del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 44156189,
          "referenceAllele": "C",
          "start": 44156188
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44156189del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 44361,
          "referenceAllele": "G",
          "start": 44360
        }
      ],
      "hgvs": [
        "NG_008847.1:g.44361del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001243"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53108,
          "referenceAllele": "G",
          "start": 53107
        }
      ],
      "hgvs": [
        "NG_008847.2:g.53108del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616115"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.8:c.*483del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.5:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826483"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000682635.1:n.971del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.7:c.488del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS748288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.8:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754065"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000671824.1:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000673284.1:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000345378.6:c.488del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS262162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000395796.7:c.482del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS276910"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000403799.7:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279907"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000437084.1:c.434del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294291"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "ENST00000616242.4:c.482del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402978"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.3:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006224"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.1:c.488del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS039778"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.1:c.482del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS039779"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.4:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS510757"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_001354800.1:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS522689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.2:c.488del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS526401"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.2:c.482del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS526402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_000162.5:c.485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS662335"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033507.3:c.488del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS699364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004195",
      "geneNCBI_id": 2645,
      "geneSymbol": "GCK",
      "hgvs": [
        "NM_033508.3:c.482del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS699365"
    }
  ],
  "type": "nucleotide"
}