{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3191669605",
  "communityStandardTitle": [
    "NM_001987.5(ETV6):c.34-5411G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2724635",
        "rs": 2724635
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 11747039,
          "referenceAllele": "G",
          "start": 11747038
        }
      ],
      "hgvs": [
        "NC_000012.12:g.11747039G>T",
        "CM000674.2:g.11747039G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 11899973,
          "referenceAllele": "G",
          "start": 11899972
        }
      ],
      "hgvs": [
        "NC_000012.11:g.11899973G>T",
        "CM000674.1:g.11899973G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 11791240,
          "referenceAllele": "G",
          "start": 11791239
        }
      ],
      "hgvs": [
        "NC_000012.10:g.11791240G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102186,
          "referenceAllele": "G",
          "start": 102185
        }
      ],
      "hgvs": [
        "NG_011443.1:g.102186G>T",
        "LRG_609:g.102186G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001721"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "endIntronDirection": "-",
          "endIntronOffset": 5410,
          "referenceAllele": "G",
          "start": 487,
          "startIntronDirection": "-",
          "startIntronOffset": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "ENST00000396373.9:c.34-5411G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379658.3:n.34-5411G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753512",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396373.9:c.34-5411G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001987.5:c.34-5411G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379658.3:n.34-5411G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001978.1:n.34-5411G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 5410,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "ENST00000396373.8:c.34-5411G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379658.3:n.34-5411G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 5410,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "ENST00000541426.1:n.218-5411G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 5410,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "ENST00000544715.1:n.308-5411G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 5410,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "NM_001987.4:c.34-5411G>T",
        "LRG_609t1:c.34-5411G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001978.1:n.34-5411G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "endIntronDirection": "-",
          "endIntronOffset": 5413,
          "referenceAllele": "G",
          "start": 223,
          "startIntronDirection": "-",
          "startIntronOffset": 5414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "XM_011520607.1:c.34-5414G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518909.1:n.34-5414G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "endIntronDirection": "+",
          "endIntronOffset": 3097,
          "referenceAllele": "G",
          "start": 21,
          "startIntronDirection": "+",
          "startIntronOffset": 3096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "XM_011520608.1:c.6+3097G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518910.1:n.6+3097G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "endIntronDirection": "-",
          "endIntronOffset": 92100,
          "referenceAllele": "G",
          "start": 220,
          "startIntronDirection": "-",
          "startIntronOffset": 92101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "XM_011520611.1:c.-101-92101G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518913.1:n.-101-92101G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "endIntronDirection": "-",
          "endIntronOffset": 5413,
          "referenceAllele": "G",
          "start": 560,
          "startIntronDirection": "-",
          "startIntronOffset": 5414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "XM_011520607.2:c.34-5414G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518909.1:n.34-5414G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "endIntronDirection": "+",
          "endIntronOffset": 3097,
          "referenceAllele": "G",
          "start": 896,
          "startIntronDirection": "+",
          "startIntronOffset": 3096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "XM_011520608.2:c.6+3097G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518910.1:n.6+3097G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 92100,
          "referenceAllele": "G",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 92101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "XM_011520611.2:c.-101-92101G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518913.1:n.-101-92101G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "endIntronDirection": "-",
          "endIntronOffset": 5410,
          "referenceAllele": "G",
          "start": 560,
          "startIntronDirection": "-",
          "startIntronOffset": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "XM_017018990.1:c.34-5411G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874479.1:n.34-5411G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 5410,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "XM_017018991.1:c.-1627-5411G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874480.1:n.-1627-5411G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "endIntronDirection": "-",
          "endIntronOffset": 5410,
          "referenceAllele": "G",
          "start": 487,
          "startIntronDirection": "-",
          "startIntronOffset": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "NM_001987.5:c.34-5411G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001978.1:n.34-5411G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396373.9:c.34-5411G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001987.5:c.34-5411G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379658.3:n.34-5411G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001978.1:n.34-5411G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}