{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356449",
  "communityStandardTitle": [
    "NM_004423.4(DVL3):c.1715-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=217241[alleleid]",
        "alleleId": 217241,
        "preferredName": "NM_004423.4(DVL3):c.1715-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219219",
        "RCV": [
          "RCV000208665",
          "RCV000210487",
          "RCV003126594"
        ],
        "variationId": 219219
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.183888105A>G?assembly=hg19",
        "id": "chr3:g.183888105A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.184170317A>G?assembly=hg38",
        "id": "chr3:g.184170317A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869025216",
        "rs": 869025216
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 184170317,
          "referenceAllele": "A",
          "start": 184170316
        }
      ],
      "hgvs": [
        "NC_000003.12:g.184170317A>G",
        "CM000665.2:g.184170317A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 183888105,
          "referenceAllele": "A",
          "start": 183888104
        }
      ],
      "hgvs": [
        "NC_000003.11:g.183888105A>G",
        "CM000665.1:g.183888105A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 185370799,
          "referenceAllele": "A",
          "start": 185370798
        }
      ],
      "hgvs": [
        "NC_000003.10:g.185370799A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20007,
          "referenceAllele": "A",
          "start": 20006
        }
      ],
      "hgvs": [
        "NG_046860.1:g.20007A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1973,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1973,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "ENST00000313143.9:c.1715-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316054.3:n.1715-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313143.9:c.1715-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004423.4:c.1715-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316054.3:n.1715-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004414.3:n.1715-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1734,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "ENST00000431765.6:c.1664-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405885.1:n.1664-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1040,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "ENST00000649847.1:c.1041-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497654.1:n.1041-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1962,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1962,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "ENST00000313143.7:c.1715-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316054.3:n.1715-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1739,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1739,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "ENST00000431765.5:c.1664-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405885.1:n.1664-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "endIntronDirection": "+",
          "endIntronOffset": 25610,
          "referenceAllele": "A",
          "start": 2116,
          "startIntronDirection": "+",
          "startIntronOffset": 25609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "ENST00000444495.1:c.2106+25610A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409142.1:n.2106+25610A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1714,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1714,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "ENST00000478247.1:n.1715-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1854,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1854,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "NM_004423.3:c.1715-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004414.3:n.1715-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2039,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2039,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "XM_005247172.1:c.1715-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247229.1:n.1715-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1649,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1649,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "XM_011512513.1:c.1211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510815.1:n.1211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1973,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1973,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "NM_004423.4:c.1715-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004414.3:n.1715-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313143.9:c.1715-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004423.4:c.1715-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316054.3:n.1715-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004414.3:n.1715-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2039,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2039,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "XM_005247172.2:c.1715-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247229.1:n.1715-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1642,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1642,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003087",
      "geneNCBI_id": 1857,
      "geneSymbol": "DVL3",
      "hgvs": [
        "XM_011512513.2:c.1211-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510815.1:n.1211-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542546"
    }
  ],
  "type": "nucleotide"
}