{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2604694182",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.1583_1585del (p.Gln528del)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2529980532",
        "rs": 2529980532
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136329986-TACA-T?dataset=gnomad_r3",
        "id": "3-136329986-TACA-T",
        "variant": "3:136329986 TACA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136329986-TACA-T?dataset=gnomad_r4",
        "id": "3-136329986-TACA-T",
        "variant": "3:136329986 TACA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 136329991,
          "referenceAllele": "AAC",
          "start": 136329988
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136329989_136329991del",
        "CM000665.2:g.136329989_136329991del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 136048833,
          "referenceAllele": "AAC",
          "start": 136048830
        }
      ],
      "hgvs": [
        "NC_000003.11:g.136048831_136048833del",
        "CM000665.1:g.136048831_136048833del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 137531523,
          "referenceAllele": "AAC",
          "start": 137531520
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137531521_137531523del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 84667,
          "referenceAllele": "AAC",
          "start": 84664
        }
      ],
      "hgvs": [
        "NG_008939.1:g.84665_84667del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1621,
          "referenceAllele": "AAC",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.1583_1585del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Gln528del",
        "hgvsWellDefined": "ENSP00000251654.4:p.Gln528del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1583_1585del"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1583_1585del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Gln528del"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Gln528del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1655,
          "referenceAllele": "AAC",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.1583_1585del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Gln528del",
        "hgvsWellDefined": "ENSP00000251654.4:p.Gln528del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1537,
          "referenceAllele": "AAC",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.1514_1516del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:p.Gln505del",
        "hgvsWellDefined": "ENSP00000420391.1:p.Gln505del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1666,
          "referenceAllele": "AAC",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.1643_1645del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:p.Gln548del",
        "hgvsWellDefined": "ENSP00000420158.1:p.Gln548del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1699,
          "referenceAllele": "AAC",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.1676_1678del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:p.Gln559del",
        "hgvsWellDefined": "ENSP00000419129.1:p.Gln559del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1662,
          "referenceAllele": "AAC",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.1643_1645del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:p.Gln548del",
        "hgvsWellDefined": "ENSP00000419027.1:p.Gln548del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1596,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "AAC",
          "start": 1596,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.1578+5_1578+7del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:n.1578+5_1578+7del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1786,
          "referenceAllele": "AAC",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000473073.1:n.1784_1786del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314905"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 4288,
          "referenceAllele": "AAC",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 4291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.885-4291_885-4289del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:n.885-4291_885-4289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1258,
          "referenceAllele": "AAC",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.1235_1237del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:p.Gln412del",
        "hgvsWellDefined": "ENSP00000417253.1:p.Gln412del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1549,
          "referenceAllele": "AAC",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.1526_1528del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:p.Gln509del",
        "hgvsWellDefined": "ENSP00000420639.1:p.Gln509del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1505,
          "referenceAllele": "AAC",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.*264_*266del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:n.*264_*266del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1435,
          "referenceAllele": "AAC",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.1412_1414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:p.Gln471del",
        "hgvsWellDefined": "ENSP00000418307.1:p.Gln471del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069810868",
      "coordinates": [
        {
          "allele": "",
          "end": 1636,
          "referenceAllele": "AAC",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.1583_1585del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Gln528del",
        "hgvsWellDefined": "NP_000523.2:p.Gln528del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1696,
          "referenceAllele": "AAC",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.1643_1645del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Gln548del",
        "hgvsWellDefined": "NP_001171485.1:p.Gln548del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069810868",
      "coordinates": [
        {
          "allele": "",
          "end": 1621,
          "referenceAllele": "AAC",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.1583_1585del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Gln528del",
        "hgvsWellDefined": "NP_000523.2:p.Gln528del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1583_1585del"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1583_1585del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Gln528del"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Gln528del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1681,
          "referenceAllele": "AAC",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.1643_1645del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Gln548del",
        "hgvsWellDefined": "NP_001171485.1:p.Gln548del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}