{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2171577213",
  "communityStandardTitle": [
    "NM_001013703.4(EIF2AK4):c.3357+444C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2412459",
        "rs": 2412459
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 40003758,
          "referenceAllele": "C",
          "start": 40003757
        }
      ],
      "hgvs": [
        "NC_000015.10:g.40003758C=",
        "CM000677.2:g.40003758C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 40295959,
          "referenceAllele": "C",
          "start": 40295958
        }
      ],
      "hgvs": [
        "NC_000015.9:g.40295959C=",
        "CM000677.1:g.40295959C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 38083251,
          "referenceAllele": "C",
          "start": 38083250
        }
      ],
      "hgvs": [
        "NC_000015.8:g.38083251C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 74635,
          "referenceAllele": "C",
          "start": 74634
        }
      ],
      "hgvs": [
        "NG_034053.1:g.74635C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005713"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3438,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3438,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "ENST00000263791.10:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263791.5:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742567",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263791.10:c.3357+444C="
          },
          "RefSeq": {
            "hgvs": "NM_001013703.4:c.3357+444C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263791.5:n.3357+444C="
          },
          "RefSeq": {
            "hgvs": "NP_001013725.2:n.3357+444C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3400,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3400,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "ENST00000263791.9:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263791.5:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 520,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "ENST00000558557.1:n.520+444C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2274,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 2274,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "ENST00000558629.5:n.2274+444C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 318,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 318,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "ENST00000559311.5:n.318+444C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2689,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 2689,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "ENST00000560855.5:c.2689+444C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3429,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3429,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "NM_001013703.3:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013725.2:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3423,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3423,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "XM_005254392.1:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254449.1:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3423,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3423,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "XM_011521599.1:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519901.1:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3423,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3423,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "XM_011521600.1:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519902.1:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3452,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3452,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "XM_005254392.3:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254449.1:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3452,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3452,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "XM_011521599.2:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519901.1:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3452,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3452,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "XM_011521600.3:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519902.1:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3452,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3452,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "XM_017022219.2:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877708.1:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3438,
          "endIntronDirection": "+",
          "endIntronOffset": 444,
          "referenceAllele": "C",
          "start": 3438,
          "startIntronDirection": "+",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019687",
      "geneNCBI_id": 440275,
      "geneSymbol": "EIF2AK4",
      "hgvs": [
        "NM_001013703.4:c.3357+444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013725.2:n.3357+444C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662933",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263791.10:c.3357+444C="
          },
          "RefSeq": {
            "hgvs": "NM_001013703.4:c.3357+444C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263791.5:n.3357+444C="
          },
          "RefSeq": {
            "hgvs": "NP_001013725.2:n.3357+444C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}