{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346460610",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.4607A>G (p.Glu1536Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3177428[alleleid]",
        "alleleId": 3177428,
        "preferredName": "NM_004304.5(ALK):c.4607A>G (p.Glu1536Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3013291",
        "RCV": [
          "RCV003870386"
        ],
        "variationId": 3013291
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29416346T>C?assembly=hg19",
        "id": "chr2:g.29416346T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29193480T>C?assembly=hg38",
        "id": "chr2:g.29193480T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2465873305",
        "rs": 2465873305
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29193480,
          "referenceAllele": "T",
          "start": 29193479
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29193480T>C",
        "CM000664.2:g.29193480T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29416346,
          "referenceAllele": "T",
          "start": 29416345
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29416346T>C",
        "CM000664.1:g.29416346T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29269850,
          "referenceAllele": "T",
          "start": 29269849
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29269850T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 733087,
          "referenceAllele": "A",
          "start": 733086
        }
      ],
      "hgvs": [
        "NG_009445.1:g.733087A>G",
        "LRG_488:g.733087A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2113,
          "endIntronDirection": "-",
          "endIntronOffset": 3447,
          "referenceAllele": "T",
          "start": 2113,
          "startIntronDirection": "-",
          "startIntronOffset": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026108",
      "geneNCBI_id": 79745,
      "geneSymbol": "CLIP4",
      "hgvs": [
        "ENST00000689605.1:c.1923-3448T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508948.1:n.1923-3448T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5534,
          "referenceAllele": "A",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.4607A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Glu1536Gly",
        "hgvsWellDefined": "ENSP00000373700.3:p.Glu1536Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.4607A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.4607A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Glu1536Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Glu1536Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "A",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.6:c.1834A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "referenceAllele": "A",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000638605.1:n.1484A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000642122.1:c.1403A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493203.1:p.Glu468Gly",
        "hgvsWellDefined": "ENSP00000493203.1:p.Glu468Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5514,
          "referenceAllele": "A",
          "start": 5513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.4607A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Glu1536Gly",
        "hgvsWellDefined": "ENSP00000373700.3:p.Glu1536Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1487,
          "referenceAllele": "A",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.5:c.1487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414027.2:p.Glu496Gly",
        "hgvsWellDefined": "ENSP00000414027.2:p.Glu496Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3943,
          "referenceAllele": "A",
          "start": 3942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.3476A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Glu1159Gly",
        "hgvsWellDefined": "ENSP00000482733.1:p.Glu1159Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829523525",
      "coordinates": [
        {
          "allele": "G",
          "end": 5559,
          "referenceAllele": "A",
          "start": 5558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.4607A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Glu1536Gly",
        "hgvsWellDefined": "NP_004295.2:p.Glu1536Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741866011",
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.1:c.1403A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:p.Glu468Gly",
        "hgvsWellDefined": "NP_001340694.1:p.Glu468Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1929,
          "referenceAllele": "A",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452778.1:c.1760A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308546.1:p.Glu587Gly",
        "hgvsWellDefined": "XP_024308546.1:p.Glu587Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2665,
          "referenceAllele": "A",
          "start": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452779.1:c.1403A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308547.1:p.Glu468Gly",
        "hgvsWellDefined": "XP_024308547.1:p.Glu468Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829523525",
      "coordinates": [
        {
          "allele": "G",
          "end": 5534,
          "referenceAllele": "A",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.4607A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Glu1536Gly",
        "hgvsWellDefined": "NP_004295.2:p.Glu1536Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.4607A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.4607A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Glu1536Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Glu1536Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741866011",
      "coordinates": [
        {
          "allele": "G",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.2:c.1403A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:p.Glu468Gly",
        "hgvsWellDefined": "NP_001340694.1:p.Glu468Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720293"
    }
  ],
  "type": "nucleotide"
}