{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340437",
  "communityStandardTitle": [
    "NM_012144.4(DNAI1):c.48+2dup"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4588795",
        "active": true,
        "id": "COSM4588795"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20643[alleleid]",
        "alleleId": 20643,
        "preferredName": "NM_012144.4(DNAI1):c.48+2dup"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5604",
        "RCV": [
          "RCV000005954",
          "RCV000230151",
          "RCV000790798",
          "RCV001266708"
        ],
        "variationId": 5604
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-34459052-G-GT",
        "id": "9-34459052-G-GT",
        "variant": "9:34459052 G / GT"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34459053dup?assembly=hg19",
        "id": "chr9:g.34459053dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34459053dupT?assembly=hg19",
        "id": "chr9:g.34459053dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34459052_34459053insT?assembly=hg19",
        "id": "chr9:g.34459052_34459053insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34459055dupT?assembly=hg38",
        "id": "chr9:g.34459055dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34459054_34459055insT?assembly=hg38",
        "id": "chr9:g.34459054_34459055insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515363",
        "rs": 397515363
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-34459052-G-GT?dataset=gnomad_r2_1",
        "id": "9-34459052-G-GT",
        "variant": "9:34459052 G / GT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-34459054-G-GT?dataset=gnomad_r3",
        "id": "9-34459054-G-GT",
        "variant": "9:34459054 G / GT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-34459054-G-GT?dataset=gnomad_r4",
        "id": "9-34459054-G-GT",
        "variant": "9:34459054 G / GT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34459055,
          "referenceAllele": "",
          "start": 34459055
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34459055dup",
        "CM000671.2:g.34459055dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34459053,
          "referenceAllele": "",
          "start": 34459053
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34459053dup",
        "CM000671.1:g.34459053dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34449053,
          "referenceAllele": "",
          "start": 34449053
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34449053dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5243,
          "referenceAllele": "",
          "start": 5243
        }
      ],
      "hgvs": [
        "NG_008127.1:g.5243dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4516,
          "referenceAllele": "",
          "start": 4516
        }
      ],
      "hgvs": [
        "NG_027971.1:g.4516dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000242317.9:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242317.4:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242317.9:c.48+2dup"
          },
          "RefSeq": {
            "hgvs": "NM_012144.4:c.48+2dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242317.4:n.48+2dup"
          },
          "RefSeq": {
            "hgvs": "NP_036276.1:n.48+2dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000242317.8:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242317.4:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000437363.5:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395396.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47,
          "endIntronDirection": "+",
          "endIntronOffset": 1595,
          "referenceAllele": "",
          "start": 47,
          "startIntronDirection": "+",
          "startIntronOffset": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000470982.5:n.47+1595dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000614641.4:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480538.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_001281428.1:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268357.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_012144.3:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_036276.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517846.1:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516148.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517847.1:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516149.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517848.1:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516150.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517849.1:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516151.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517850.1:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516152.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XR_929232.1:n.302+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XR_929233.1:n.302+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XR_929235.1:n.302+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517846.2:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516148.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517847.3:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516149.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517848.2:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516150.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517849.2:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516151.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517850.3:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516152.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 229,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_017014625.2:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870114.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XR_002956774.1:n.249+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XR_929232.2:n.249+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XR_929233.2:n.249+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_012144.4:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_036276.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242317.9:c.48+2dup"
          },
          "RefSeq": {
            "hgvs": "NM_012144.4:c.48+2dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242317.4:n.48+2dup"
          },
          "RefSeq": {
            "hgvs": "NP_036276.1:n.48+2dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_001281428.2:c.48+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268357.1:n.48+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715686"
    }
  ],
  "type": "nucleotide"
}