{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14682219",
  "communityStandardTitle": [
    "NM_000208.4(INSR):c.974+1364T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7182963A>C?assembly=hg19",
        "id": "chr19:g.7182963A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7182952A>C?assembly=hg38",
        "id": "chr19:g.7182952A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10500204",
        "rs": 10500204
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-7182963-A-C?dataset=gnomad_r2_1",
        "id": "19-7182963-A-C",
        "variant": "19:7182963 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-7182952-A-C?dataset=gnomad_r3",
        "id": "19-7182952-A-C",
        "variant": "19:7182952 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-7182952-A-C?dataset=gnomad_r4",
        "id": "19-7182952-A-C",
        "variant": "19:7182952 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 7182952,
          "referenceAllele": "A",
          "start": 7182951
        }
      ],
      "hgvs": [
        "NC_000019.10:g.7182952A>C",
        "CM000681.2:g.7182952A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 7182963,
          "referenceAllele": "A",
          "start": 7182962
        }
      ],
      "hgvs": [
        "NC_000019.9:g.7182963A>C",
        "CM000681.1:g.7182963A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 7133963,
          "referenceAllele": "A",
          "start": 7133962
        }
      ],
      "hgvs": [
        "NC_000019.8:g.7133963A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 116049,
          "referenceAllele": "T",
          "start": 116048
        }
      ],
      "hgvs": [
        "NG_008852.2:g.116049T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001249"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1497,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "ENST00000302850.10:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303830.4:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744986",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302850.10:c.974+1364T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000208.4:c.974+1364T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303830.4:n.974+1364T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000199.2:n.974+1364T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1117,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1117,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "ENST00000302850.9:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303830.4:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1014,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1014,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "ENST00000341500.9:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342838.4:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 949,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "ENST00000598216.1:n.949+1364T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1083,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_000208.2:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000199.2:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1385,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_000208.3:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000199.2:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1083,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_001079817.1:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073285.1:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1385,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_001079817.2:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073285.1:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1691,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1691,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "XM_011527988.1:c.1052+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526290.1:n.1052+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1691,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1691,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "XM_011527989.1:c.1052+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526291.1:n.1052+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1488,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "XM_011527988.2:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526290.2:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1488,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "XM_011527989.3:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526291.2:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1497,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_000208.4:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000199.2:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662356",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302850.10:c.974+1364T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000208.4:c.974+1364T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303830.4:n.974+1364T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000199.2:n.974+1364T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "endIntronDirection": "+",
          "endIntronOffset": 1364,
          "referenceAllele": "T",
          "start": 1497,
          "startIntronDirection": "+",
          "startIntronOffset": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NM_001079817.3:c.974+1364T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073285.1:n.974+1364T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676224"
    }
  ],
  "type": "nucleotide"
}