{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA223371670",
  "communityStandardTitle": [
    "NM_001876.4(CPT1A):c.1575+1_1575+84del"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68542700_68542783del?assembly=hg19",
        "id": "chr11:g.68542700_68542783del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68775232_68775315del?assembly=hg38",
        "id": "chr11:g.68775232_68775315del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356802",
        "rs": 80356802
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 68775315,
          "referenceAllele": "CTACGGTTGGAAAATTCATCTGTAAGACTTCAAATGTGTTTCCCATCCCAGGTAAGTAACAATGGTTGGATAATCCGGACTTAC",
          "start": 68775231
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68775232_68775315del",
        "CM000673.2:g.68775232_68775315del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 68542783,
          "referenceAllele": "CTACGGTTGGAAAATTCATCTGTAAGACTTCAAATGTGTTTCCCATCCCAGGTAAGTAACAATGGTTGGATAATCCGGACTTAC",
          "start": 68542699
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68542700_68542783del",
        "CM000673.1:g.68542700_68542783del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 68299359,
          "referenceAllele": "CTACGGTTGGAAAATTCATCTGTAAGACTTCAAATGTGTTTCCCATCCCAGGTAAGTAACAATGGTTGGATAATCCGGACTTAC",
          "start": 68299275
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68299276_68299359del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 71700,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 71616
        }
      ],
      "hgvs": [
        "NG_011801.1:g.71617_71700del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001982"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1730,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1730,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.10:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.1575+1_1575+84del"
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.1575+1_1575+84del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:n.1575+1_1575+84del"
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:n.1575+1_1575+84del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1730,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1730,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.9:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251790"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000376618.6:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365803.2:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1604,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1604,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000539743.5:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446108.1:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362030"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1604,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1604,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000540367.5:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439084.1:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362356"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.2:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009043"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.3:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1721,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1721,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.1:c.1671+1_1671+84del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:n.1671+1_1671+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067723"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1721,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1721,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273763.1:c.1671+1_1671+84del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273820.1:n.1671+1_1671+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067724"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1721,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1721,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.3:c.1671+1_1671+84del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:n.1671+1_1671+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537501"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1854,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1854,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_017017220.1:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872709.1:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569469"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1730,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1730,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.4:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.1575+1_1575+84del"
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.1575+1_1575+84del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:n.1575+1_1575+84del"
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:n.1575+1_1575+84del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1730,
          "endIntronDirection": "+",
          "endIntronOffset": 84,
          "referenceAllele": "GTAAGTCCGGATTATCCAACCATTGTTACTTACCTGGGATGGGAAACACATTTGAAGTCTTACAGATGAATTTTCCAACCGTAG",
          "start": 1730,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.3:c.1575+1_1575+84del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:n.1575+1_1575+84del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711494"
    }
  ],
  "type": "nucleotide"
}