{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2668431689",
  "communityStandardTitle": [
    "NM_000055.4(BCHE):c.1145del (p.Leu382Ter)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2473425296",
        "rs": 2473425296
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-165829888-TA-T?dataset=gnomad_r4",
        "id": "3-165829888-TA-T",
        "variant": "3:165829888 TA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 165829891,
          "referenceAllele": "A",
          "start": 165829890
        }
      ],
      "hgvs": [
        "NC_000003.12:g.165829891del",
        "CM000665.2:g.165829891del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 165547679,
          "referenceAllele": "A",
          "start": 165547678
        }
      ],
      "hgvs": [
        "NC_000003.11:g.165547679del",
        "CM000665.1:g.165547679del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 167030373,
          "referenceAllele": "A",
          "start": 167030372
        }
      ],
      "hgvs": [
        "NC_000003.10:g.167030373del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12577,
          "referenceAllele": "T",
          "start": 12576
        }
      ],
      "hgvs": [
        "NG_009031.1:g.12577del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001391"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1263,
          "referenceAllele": "T",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000264381.8:c.1145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264381.3:p.Leu382Ter",
        "hgvsWellDefined": "ENSP00000264381.3:p.Leu382_Glu411del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264381.8:c.1145del"
          },
          "RefSeq": {
            "hgvs": "NM_000055.4:c.1145del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264381.3:p.Leu382Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000046.1:p.Leu382Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1312,
          "referenceAllele": "T",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000264381.7:c.1145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264381.3:p.Leu382Ter",
        "hgvsWellDefined": "ENSP00000264381.3:p.Leu382_Glu411del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251491"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 7425,
          "referenceAllele": "T",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 7424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000479451.5:c.107+7425del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418325.1:n.107+7425del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000482958.1:c.1145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419804.1:p.Leu382Ter",
        "hgvsWellDefined": "ENSP00000419804.1:p.Leu382_Glu411del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322538"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 7425,
          "referenceAllele": "T",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 7424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000488954.1:c.107+7425del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418504.1:n.107+7425del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000497011.5:c.1145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419505.1:p.Leu382Ter",
        "hgvsWellDefined": "ENSP00000419505.1:p.Leu382_Glu411del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069712400",
      "coordinates": [
        {
          "allele": "",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.2:c.1145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Leu382Ter",
        "hgvsWellDefined": "NP_000046.1:p.Leu382_Glu411del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006120"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1312,
          "referenceAllele": "T",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "XM_005247685.1:c.1268del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247742.1:p.Leu423Ter",
        "hgvsWellDefined": "XP_005247742.1:p.Leu423_Glu452del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069712400",
      "coordinates": [
        {
          "allele": "",
          "end": 1312,
          "referenceAllele": "T",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.3:c.1145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Leu382Ter",
        "hgvsWellDefined": "NP_000046.1:p.Leu382_Glu411del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510746"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 7425,
          "referenceAllele": "T",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 7424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137635.1:n.159+7425del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529096"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1312,
          "referenceAllele": "T",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137636.1:n.1312del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069712400",
      "coordinates": [
        {
          "allele": "",
          "end": 1263,
          "referenceAllele": "T",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.4:c.1145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Leu382Ter",
        "hgvsWellDefined": "NP_000046.1:p.Leu382_Glu411del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264381.8:c.1145del"
          },
          "RefSeq": {
            "hgvs": "NM_000055.4:c.1145del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264381.3:p.Leu382Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000046.1:p.Leu382Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 7425,
          "referenceAllele": "T",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 7424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137635.2:n.110+7425del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1263,
          "referenceAllele": "T",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137636.2:n.1263del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703981"
    }
  ],
  "type": "nucleotide"
}