{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA469555247",
  "communityStandardTitle": [
    "NC_000010.11:g.46046599_46046600dup"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.51549221_51549222insCT?assembly=hg19",
        "id": "chr10:g.51549221_51549222insCT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.46046598_46046599insAG?assembly=hg38",
        "id": "chr10:g.46046598_46046599insAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10669586",
        "rs": 10669586
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-51549221-G-GCT?dataset=gnomad_r2_1",
        "id": "10-51549221-G-GCT",
        "variant": "10:51549221 G / GCT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-46046598-C-CAG?dataset=gnomad_r3",
        "id": "10-46046598-C-CAG",
        "variant": "10:46046598 C / CAG"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-46046598-C-CAG?dataset=gnomad_r4",
        "id": "10-46046598-C-CAG",
        "variant": "10:46046598 C / CAG"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AG",
          "end": 46046600,
          "referenceAllele": "",
          "start": 46046600
        }
      ],
      "hgvs": [
        "NC_000010.11:g.46046599_46046600dup",
        "CM000672.2:g.46046599_46046600dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "CT",
          "end": 51549223,
          "referenceAllele": "",
          "start": 51549223
        }
      ],
      "hgvs": [
        "NC_000010.10:g.51549222_51549223dup",
        "CM000672.1:g.51549222_51549223dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "CT",
          "end": 51219229,
          "referenceAllele": "",
          "start": 51219229
        }
      ],
      "hgvs": [
        "NC_000010.9:g.51219228_51219229dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 4671,
          "referenceAllele": "",
          "start": 4671
        }
      ],
      "hgvs": [
        "NG_011551.1:g.4670_4671dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001810"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 219,
          "referenceAllele": "",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007372",
      "geneNCBI_id": 4477,
      "geneSymbol": "MSMB",
      "hgvs": [
        "ENST00000663171.1:c.-142-221_-142-220dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499419.1:n.-142-221_-142-220dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772810"
    }
  ],
  "type": "nucleotide"
}