{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346467950",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.2952T>G (p.Tyr984Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=561321[alleleid]",
        "alleleId": 561321,
        "preferredName": "NM_004304.5(ALK):c.2952T>G (p.Tyr984Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/577462",
        "RCV": [
          "RCV000700224"
        ],
        "variationId": 577462
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29449903A>C?assembly=hg19",
        "id": "chr2:g.29449903A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29227037A>C?assembly=hg38",
        "id": "chr2:g.29227037A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1558626238",
        "rs": 1558626238
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29227037,
          "referenceAllele": "A",
          "start": 29227036
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29227037A>C",
        "CM000664.2:g.29227037A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29449903,
          "referenceAllele": "A",
          "start": 29449902
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29449903A>C",
        "CM000664.1:g.29449903A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 29303407,
          "referenceAllele": "A",
          "start": 29303406
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29303407A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 699530,
          "referenceAllele": "T",
          "start": 699529
        }
      ],
      "hgvs": [
        "NG_009445.1:g.699530T>G",
        "LRG_488:g.699530T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3879,
          "referenceAllele": "T",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.8:c.2952T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Tyr984Ter",
        "hgvsWellDefined": "ENSP00000373700.3:p.Tyr984_Pro1620delinsLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.2952T>G"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.2952T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Tyr984Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Tyr984Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 118,
          "referenceAllele": "T",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.6:c.118T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3859,
          "referenceAllele": "T",
          "start": 3858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000389048.7:c.2952T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373700.3:p.Tyr984Ter",
        "hgvsWellDefined": "ENSP00000373700.3:p.Tyr984_Pro1620delinsLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2288,
          "referenceAllele": "T",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000618119.4:c.1821T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482733.1:p.Tyr607Ter",
        "hgvsWellDefined": "ENSP00000482733.1:p.Tyr607_Pro1243delinsLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855314",
      "coordinates": [
        {
          "allele": "G",
          "end": 3904,
          "referenceAllele": "T",
          "start": 3903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.4:c.2952T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Tyr984Ter",
        "hgvsWellDefined": "NP_004295.2:p.Tyr984_Pro1620delinsLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452778.1:c.105T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308546.1:p.Tyr35Ter",
        "hgvsWellDefined": "XP_024308546.1:p.Tyr35_Pro671delinsLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3808,
          "referenceAllele": "T",
          "start": 3807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XR_001738688.2:n.3808T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855314",
      "coordinates": [
        {
          "allele": "G",
          "end": 3879,
          "referenceAllele": "T",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.2952T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Tyr984Ter",
        "hgvsWellDefined": "NP_004295.2:p.Tyr984_Pro1620delinsLeuAsnCysSerHisCysGluValAspGluCysHisMetAspProGluSerHisLysValIleCysPheCysAspHisGlyThrValLeuAlaGluAspGlyValSerCysIleValSerProThrProGluProHisLeuProLeuSerLeuIleLeuSerValValThrSerAlaLeuValAlaAlaLeuValLeuAlaPheSerGlyIleMetIleValTyrArgArgLysHisGlnGluLeuGlnAlaMetGlnMetGluLeuGlnSerProGluTyrLysLeuSerLysLeuArgThrSerThrIleMetThrAspTyrAsnProAsnTyrCysPheAlaGlyLysThrSerSerIleSerAspLeuLysGluValProArgLysAsnIleThrLeuIleArgGlyLeuGlyHisGlyAlaPheGlyGluValTyrGluGlyGlnValSerGlyMetProAsnAspProSerProLeuGlnValAlaValLysThrLeuProGluValCysSerGluGlnAspGluLeuAspPheLeuMetGluAlaLeuIleIleSerLysPheAsnHisGlnAsnIleValArgCysIleGlyValSerLeuGlnSerLeuProArgPheIleLeuLeuGluLeuMetAlaGlyGlyAspLeuLysSerPheLeuArgGluThrArgProArgProSerGlnProSerSerLeuAlaMetLeuAspLeuLeuHisValAlaArgAspIleAlaCysGlyCysGlnTyrLeuGluGluAsnHisPheIleHisArgAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.2952T>G"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.2952T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Tyr984Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Tyr984Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}