{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381700586",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546953[alleleid]",
        "alleleId": 546953,
        "preferredName": "NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558361",
        "RCV": [
          "RCV000674614"
        ],
        "variationId": 558361
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71146473C>T?assembly=hg19",
        "id": "chr11:g.71146473C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71435427C>T?assembly=hg38",
        "id": "chr11:g.71435427C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555145550",
        "rs": 1555145550
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71435427,
          "referenceAllele": "C",
          "start": 71435426
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71435427C>T",
        "CM000673.2:g.71435427C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71146473,
          "referenceAllele": "C",
          "start": 71146472
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71146473C>T",
        "CM000673.1:g.71146473C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 70824121,
          "referenceAllele": "C",
          "start": 70824120
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70824121C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18005,
          "referenceAllele": "G",
          "start": 18004
        }
      ],
      "hgvs": [
        "NG_012655.2:g.18005G>A",
        "LRG_340:g.18005G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1597,
          "referenceAllele": "G",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Trp459Ter",
        "hgvsWellDefined": "ENSP00000435707.3:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Trp459Ter",
        "hgvsWellDefined": "ENSP00000435668.2:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.1202G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Trp401Ter",
        "hgvsWellDefined": "ENSP00000435047.2:p.Trp401_Phe417delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1704,
          "referenceAllele": "G",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.1427G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Trp476Ter",
        "hgvsWellDefined": "ENSP00000506866.1:p.Trp476_Phe492delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.1412G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Trp471Ter",
        "hgvsWellDefined": "ENSP00000507607.1:p.Trp471_Phe487delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.*139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:n.*139G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.1416G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Trp264Ter",
        "hgvsWellDefined": "ENSP00000509319.1:p.Trp264_Phe280delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.1280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Trp427Ter",
        "hgvsWellDefined": "ENSP00000510750.1:p.Trp427_Phe443delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "G",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Trp459Ter",
        "hgvsWellDefined": "ENSP00000347717.4:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.1376G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.1376G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Trp459Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Trp459Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1653,
          "referenceAllele": "G",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Trp459Ter",
        "hgvsWellDefined": "ENSP00000347717.3:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "G",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Trp459Ter",
        "hgvsWellDefined": "ENSP00000384739.2:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.877G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:n.877G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000533800.5:c.611+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435011.1:n.611+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 2385,
          "referenceAllele": "G",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.319+2385G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964648",
      "coordinates": [
        {
          "allele": "A",
          "end": 1626,
          "referenceAllele": "G",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Trp459Ter",
        "hgvsWellDefined": "NP_001157289.1:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828958",
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.1376G>A",
        "LRG_340t1:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Trp459Ter",
        "hgvsWellDefined": "NP_001351.2:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1733,
          "referenceAllele": "G",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.*139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:n.*139G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.*139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:n.*139G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964648",
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "G",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Trp459Ter",
        "hgvsWellDefined": "NP_001157289.1:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828958",
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "G",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.1376G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Trp459Ter",
        "hgvsWellDefined": "NP_001351.2:p.Trp459_Phe475delinsGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.1376G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.1376G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Trp459Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Trp459Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}