{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658655644",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.3646-5C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450858[alleleid]",
        "alleleId": 450858,
        "preferredName": "NM_004304.5(ALK):c.3646-5C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/470839",
        "RCV": [
          "RCV000558711",
          "RCV004024159"
        ],
        "variationId": 470839
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29436952G>A?assembly=hg19",
        "id": "chr2:g.29436952G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29214086G>A?assembly=hg38",
        "id": "chr2:g.29214086G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1444967093",
        "rs": 1444967093
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29214086-G-A?dataset=gnomad_r4",
        "id": "2-29214086-G-A",
        "variant": "2:29214086 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29214086,
          "referenceAllele": "G",
          "start": 29214085
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29214086G>A",
        "CM000664.2:g.29214086G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29436952,
          "referenceAllele": "G",
          "start": 29436951
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29436952G>A",
        "CM000664.1:g.29436952G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29290456,
          "referenceAllele": "G",
          "start": 29290455
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29290456G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712481,
          "referenceAllele": "C",
          "start": 712480
        }
      ],
      "hgvs": [
        "NG_009445.1:g.712481C>T",
        "LRG_488:g.712481C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4572,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 4572,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.3646-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:n.3646-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.3646-5C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.3646-5C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:n.3646-5C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:n.3646-5C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 872,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.6:c.873-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000638605.1:n.523-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 845,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000642122.1:c.442-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493203.1:n.442-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4552,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 4552,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.3646-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:n.3646-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.5:c.526-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414027.2:n.526-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2981,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 2981,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.2515-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:n.2515-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4597,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 4597,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.3646-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:n.3646-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 845,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.1:c.442-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:n.442-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 967,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452778.1:c.799-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308546.1:n.799-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1703,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1703,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452779.1:c.442-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308547.1:n.442-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4572,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 4572,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.3646-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:n.3646-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.3646-5C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.3646-5C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:n.3646-5C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:n.3646-5C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.2:c.442-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:n.442-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720293"
    }
  ],
  "type": "nucleotide"
}