{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1548115934",
  "communityStandardTitle": [
    "NM_005921.2(MAP3K1):c.482+15984G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/726501",
        "rs": 726501
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 56832039,
          "referenceAllele": "G",
          "start": 56832038
        }
      ],
      "hgvs": [
        "NC_000005.10:g.56832039G=",
        "CM000667.2:g.56832039G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 56127866,
          "referenceAllele": "G",
          "start": 56127865
        }
      ],
      "hgvs": [
        "NC_000005.9:g.56127866G=",
        "CM000667.1:g.56127866G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 56163623,
          "referenceAllele": "G",
          "start": 56163622
        }
      ],
      "hgvs": [
        "NC_000005.8:g.56163623G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21967,
          "referenceAllele": "G",
          "start": 21966
        }
      ],
      "hgvs": [
        "NG_031884.1:g.21967G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 15984,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 15983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "ENST00000399503.4:c.482+15984G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382423.3:n.482+15984G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399503.4:c.482+15984G="
          },
          "RefSeq": {
            "hgvs": "NM_005921.2:c.482+15984G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382423.3:n.482+15984G="
          },
          "RefSeq": {
            "hgvs": "NP_005912.1:n.482+15984G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 15984,
          "referenceAllele": "G",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 15983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "ENST00000399503.3:c.482+15984G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382423.3:n.482+15984G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "endIntronDirection": "+",
          "endIntronOffset": 15984,
          "referenceAllele": "G",
          "start": 983,
          "startIntronDirection": "+",
          "startIntronOffset": 15983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "NM_005921.1:c.482+15984G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005912.1:n.482+15984G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 11223,
          "referenceAllele": "G",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 11222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_005248519.3:c.104+11223G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248576.2:n.104+11223G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "endIntronDirection": "+",
          "endIntronOffset": 15704,
          "referenceAllele": "G",
          "start": 256,
          "startIntronDirection": "+",
          "startIntronOffset": 15703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_011543406.1:c.227+15704G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541708.1:n.227+15704G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 497,
          "endIntronDirection": "+",
          "endIntronOffset": 15984,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "+",
          "startIntronOffset": 15983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_011543407.1:c.482+15984G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541709.1:n.482+15984G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 497,
          "endIntronDirection": "+",
          "endIntronOffset": 15984,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "+",
          "startIntronOffset": 15983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_011543408.1:c.482+15984G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541710.1:n.482+15984G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3694,
          "endIntronDirection": "+",
          "endIntronOffset": 11223,
          "referenceAllele": "G",
          "start": 3694,
          "startIntronDirection": "+",
          "startIntronOffset": 11222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_017009484.1:c.71+11223G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864973.1:n.71+11223G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563792"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 14923,
          "referenceAllele": "G",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 14922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_017009485.1:c.-8+14923G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864974.1:n.-8+14923G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 15984,
          "referenceAllele": "G",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 15983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XR_001742068.2:n.513+15984G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 15984,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 15983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "NM_005921.2:c.482+15984G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005912.1:n.482+15984G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399503.4:c.482+15984G="
          },
          "RefSeq": {
            "hgvs": "NM_005921.2:c.482+15984G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382423.3:n.482+15984G="
          },
          "RefSeq": {
            "hgvs": "NP_005912.1:n.482+15984G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}