{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1417759502",
  "communityStandardTitle": [
    "NM_000055.4(BCHE):c.1258_1260delinsGTT (p.Val420=)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 165829776,
          "referenceAllele": "AAC",
          "start": 165829773
        }
      ],
      "hgvs": [
        "NC_000003.12:g.165829774_165829776delinsAAC",
        "CM000665.2:g.165829774_165829776delinsAAC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 165547564,
          "referenceAllele": "AAC",
          "start": 165547561
        }
      ],
      "hgvs": [
        "NC_000003.11:g.165547562_165547564delinsAAC",
        "CM000665.1:g.165547562_165547564delinsAAC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "AAC",
          "end": 167030258,
          "referenceAllele": "AAC",
          "start": 167030255
        }
      ],
      "hgvs": [
        "NC_000003.10:g.167030256_167030258delinsAAC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 12692,
          "referenceAllele": "GTT",
          "start": 12689
        }
      ],
      "hgvs": [
        "NG_009031.1:g.12690_12692delinsGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001391"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1378,
          "referenceAllele": "GTT",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000264381.8:c.1258_1260delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264381.3:p.Val420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264381.8:c.1258_1260delinsGTT"
          },
          "RefSeq": {
            "hgvs": "NM_000055.4:c.1258_1260delinsGTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264381.3:p.Val420="
          },
          "RefSeq": {
            "hgvs": "NP_000046.1:p.Val420="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1427,
          "referenceAllele": "GTT",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000264381.7:c.1258_1260delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264381.3:p.Val420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251491"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 7540,
          "referenceAllele": "GTT",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 7537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000479451.5:c.107+7538_107+7540delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418325.1:n.107+7538_107+7540delinsGTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319828"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1417,
          "referenceAllele": "GTT",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000482958.1:c.1258_1260delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419804.1:p.Val420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322538"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 7540,
          "referenceAllele": "GTT",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 7537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000488954.1:c.107+7538_107+7540delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418504.1:n.107+7538_107+7540delinsGTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327115"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1417,
          "referenceAllele": "GTT",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000497011.5:c.1258_1260delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419505.1:p.Val420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068472628",
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1420,
          "referenceAllele": "GTT",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.2:c.1258_1260delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Val420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006120"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1427,
          "referenceAllele": "GTT",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "XM_005247685.1:c.1381_1383delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247742.1:p.Val461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068472628",
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1427,
          "referenceAllele": "GTT",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.3:c.1258_1260delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Val420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510746"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 7540,
          "referenceAllele": "GTT",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 7537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137635.1:n.159+7538_159+7540delinsGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529096"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1427,
          "referenceAllele": "GTT",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137636.1:n.1425_1427delinsGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068472628",
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1378,
          "referenceAllele": "GTT",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.4:c.1258_1260delinsGTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Val420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264381.8:c.1258_1260delinsGTT"
          },
          "RefSeq": {
            "hgvs": "NM_000055.4:c.1258_1260delinsGTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264381.3:p.Val420="
          },
          "RefSeq": {
            "hgvs": "NP_000046.1:p.Val420="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 7540,
          "referenceAllele": "GTT",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 7537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137635.2:n.110+7538_110+7540delinsGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703980"
    },
    {
      "coordinates": [
        {
          "allele": "GTT",
          "end": 1378,
          "referenceAllele": "GTT",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137636.2:n.1376_1378delinsGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703981"
    }
  ],
  "type": "nucleotide"
}