{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1981488055",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.852C= (p.Phe284=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/184297154",
        "rs": 184297154
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 71437923,
          "referenceAllele": "G",
          "start": 71437922
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71437923G=",
        "CM000673.2:g.71437923G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 71148969,
          "referenceAllele": "G",
          "start": 71148968
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71148969G=",
        "CM000673.1:g.71148969G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 70826617,
          "referenceAllele": "G",
          "start": 70826616
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70826617G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15509,
          "referenceAllele": "C",
          "start": 15508
        }
      ],
      "hgvs": [
        "NG_012655.2:g.15509C=",
        "LRG_340:g.15509C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.678C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Phe226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.903C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Phe301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682880.1:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507520.1:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.888C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Phe296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "C",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.892C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.267C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.756C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Phe252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.852C="
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.852C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Phe284="
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Phe284="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.219C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:p.Phe73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.5:c.756C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.1:p.Phe252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000533800.5:c.102C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435011.1:p.Phe34="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.208C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1102,
          "referenceAllele": "C",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077763049",
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.852C=",
        "LRG_340t1:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1081,
          "referenceAllele": "C",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077763049",
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.852C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Phe284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.852C="
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.852C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Phe284="
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Phe284="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}