{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1241071237",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.4380_4381delinsAG (p.Ile1461Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1024432[alleleid]",
        "alleleId": 1024432,
        "preferredName": "NM_004304.5(ALK):c.4380_4381delinsAG (p.Ile1461Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1047157",
        "RCV": [
          "RCV001351833"
        ],
        "variationId": 1047157
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1668946149",
        "rs": 1668946149
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CT",
          "end": 29193707,
          "referenceAllele": "TC",
          "start": 29193705
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29193706_29193707delinsCT",
        "CM000664.2:g.29193706_29193707delinsCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CT",
          "end": 29416573,
          "referenceAllele": "TC",
          "start": 29416571
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29416572_29416573delinsCT",
        "CM000664.1:g.29416572_29416573delinsCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CT",
          "end": 29270077,
          "referenceAllele": "TC",
          "start": 29270075
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29270076_29270077delinsCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 732861,
          "referenceAllele": "GA",
          "start": 732859
        }
      ],
      "hgvs": [
        "NG_009445.1:g.732860_732861delinsAG",
        "LRG_488:g.732860_732861delinsAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 2113,
          "endIntronDirection": "-",
          "endIntronOffset": 3220,
          "referenceAllele": "TC",
          "start": 2113,
          "startIntronDirection": "-",
          "startIntronOffset": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026108",
      "geneNCBI_id": 79745,
      "geneSymbol": "CLIP4",
      "hgvs": [
        "ENST00000689605.1:c.1923-3222_1923-3221delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508948.1:n.1923-3222_1923-3221delinsCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832259"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 5308,
          "referenceAllele": "GA",
          "start": 5306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.4380_4381delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Ile1461Val",
        "hgvsWellDefined": "ENSP00000373700.3:p.Ile1461Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.4380_4381delinsAG"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.4380_4381delinsAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Ile1461Val"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Ile1461Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1608,
          "referenceAllele": "GA",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.6:c.1607_1608delinsAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755387"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1258,
          "referenceAllele": "GA",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000638605.1:n.1257_1258delinsAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764612"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1581,
          "referenceAllele": "GA",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000642122.1:c.1176_1177delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493203.1:p.Ile393Val",
        "hgvsWellDefined": "ENSP00000493203.1:p.Ile393Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766572"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 5288,
          "referenceAllele": "GA",
          "start": 5286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.4380_4381delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Ile1461Val",
        "hgvsWellDefined": "ENSP00000373700.3:p.Ile1461Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1261,
          "referenceAllele": "GA",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.5:c.1260_1261delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414027.2:p.Ile421Val",
        "hgvsWellDefined": "ENSP00000414027.2:p.Ile421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291823"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 3717,
          "referenceAllele": "GA",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.3249_3250delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Ile1084Val",
        "hgvsWellDefined": "ENSP00000482733.1:p.Ile1084Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA156634",
      "coordinates": [
        {
          "allele": "AG",
          "end": 5333,
          "referenceAllele": "GA",
          "start": 5331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.4380_4381delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Ile1461Val",
        "hgvsWellDefined": "NP_004295.2:p.Ile1461Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036194",
      "coordinates": [
        {
          "allele": "AG",
          "end": 1581,
          "referenceAllele": "GA",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.1:c.1176_1177delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:p.Ile393Val",
        "hgvsWellDefined": "NP_001340694.1:p.Ile393Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521941"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1703,
          "referenceAllele": "GA",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452778.1:c.1533_1534delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308546.1:p.Ile512Val",
        "hgvsWellDefined": "XP_024308546.1:p.Ile512Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 2439,
          "referenceAllele": "GA",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452779.1:c.1176_1177delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308547.1:p.Ile393Val",
        "hgvsWellDefined": "XP_024308547.1:p.Ile393Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA156634",
      "coordinates": [
        {
          "allele": "AG",
          "end": 5308,
          "referenceAllele": "GA",
          "start": 5306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.4380_4381delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Ile1461Val",
        "hgvsWellDefined": "NP_004295.2:p.Ile1461Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.4380_4381delinsAG"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.4380_4381delinsAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Ile1461Val"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Ile1461Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036194",
      "coordinates": [
        {
          "allele": "AG",
          "end": 1504,
          "referenceAllele": "GA",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.2:c.1176_1177delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:p.Ile393Val",
        "hgvsWellDefined": "NP_001340694.1:p.Ile393Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720293"
    }
  ],
  "type": "nucleotide"
}