{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA983867445",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.231-216_231-214del"
  ],
  "externalRecords": {
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42903705-CAAA-C?dataset=gnomad_r3",
        "id": "17-42903705-CAAA-C",
        "variant": "17:42903705 CAAA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42903705-CAAA-C?dataset=gnomad_r4",
        "id": "17-42903705-CAAA-C",
        "variant": "17:42903705 CAAA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 42903717,
          "referenceAllele": "AAA",
          "start": 42903714
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42903715_42903717del",
        "CM000679.2:g.42903715_42903717del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41055734,
          "referenceAllele": "AAA",
          "start": 41055731
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41055732_41055734del",
        "CM000679.1:g.41055732_41055734del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38309260,
          "referenceAllele": "AAA",
          "start": 38309257
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38309258_38309260del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7920,
          "referenceAllele": "AAA",
          "start": 7917
        }
      ],
      "hgvs": [
        "NG_011808.1:g.7918_7920del",
        "LRG_147:g.7918_7920del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.231-216_231-214del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:n.231-216_231-214del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.231-216_231-214del"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.231-216_231-214del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:n.231-216_231-214del"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:n.231-216_231-214del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.231-216_231-214del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:n.231-216_231-214del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.231-216_231-214del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:n.231-216_231-214del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 295,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 295,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000588481.1:n.296-216_296-214del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390806"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 310,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 310,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.231-216_231-214del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:n.231-216_231-214del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 310,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 310,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.231-216_231-214del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:n.231-216_231-214del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 310,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 310,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.231-216_231-214del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.231-216_231-214del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.231-216_231-214del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:n.231-216_231-214del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.231-216_231-214del"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.231-216_231-214del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:n.231-216_231-214del"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:n.231-216_231-214del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "AAA",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.231-216_231-214del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:n.231-216_231-214del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}