{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA315392563",
  "communityStandardTitle": [
    "NM_001080472.4(FITM2):c.576del (p.Val193TrpfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415695[alleleid]",
        "alleleId": 2415695,
        "preferredName": "NM_001080472.4(FITM2):c.576del (p.Val193fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2441981",
        "RCV": [
          "RCV003148302"
        ],
        "variationId": 2441981
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.42935478del?assembly=hg19",
        "id": "chr20:g.42935478del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.44306838del?assembly=hg38",
        "id": "chr20:g.44306838del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/913653009",
        "rs": 913653009
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-42935477-CA-C?dataset=gnomad_r2_1",
        "id": "20-42935477-CA-C",
        "variant": "20:42935477 CA / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-44306837-CA-C?dataset=gnomad_r3",
        "id": "20-44306837-CA-C",
        "variant": "20:44306837 CA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-44306837-CA-C?dataset=gnomad_r4",
        "id": "20-44306837-CA-C",
        "variant": "20:44306837 CA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 44306839,
          "referenceAllele": "A",
          "start": 44306838
        }
      ],
      "hgvs": [
        "NC_000020.11:g.44306839del",
        "CM000682.2:g.44306839del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 42935479,
          "referenceAllele": "A",
          "start": 42935478
        }
      ],
      "hgvs": [
        "NC_000020.10:g.42935479del",
        "CM000682.1:g.42935479del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 42368893,
          "referenceAllele": "A",
          "start": 42368892
        }
      ],
      "hgvs": [
        "NC_000020.9:g.42368893del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 630,
          "referenceAllele": "T",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016135",
      "geneNCBI_id": 128486,
      "geneSymbol": "FITM2",
      "hgvs": [
        "ENST00000396825.4:c.576del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380037.3:p.Val193TrpfsTer6",
        "hgvsWellDefined": "ENSP00000380037.3:p.[Val193_Ile201delinsTrpPro;Val203_Thr209del;Val211_Tyr212del;His214_Gly222del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753562",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396825.4:c.576del"
          },
          "RefSeq": {
            "hgvs": "NM_001080472.4:c.576del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380037.3:p.Val193TrpfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001073941.1:p.Val193TrpfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 597,
          "referenceAllele": "T",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016135",
      "geneNCBI_id": 128486,
      "geneSymbol": "FITM2",
      "hgvs": [
        "ENST00000396825.3:c.576del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380037.3:p.Val193TrpfsTer6",
        "hgvsWellDefined": "ENSP00000380037.3:p.[Val193_Ile201delinsTrpPro;Val203_Thr209del;Val211_Tyr212del;His214_Gly222del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 677,
          "referenceAllele": "T",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016135",
      "geneNCBI_id": 128486,
      "geneSymbol": "FITM2",
      "hgvs": [
        "NM_001080472.2:c.576del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073941.1:p.Val193TrpfsTer6",
        "hgvsWellDefined": "NP_001073941.1:p.[Val193_Ile201delinsTrpPro;Val203_Thr209del;Val211_Tyr212del;His214_Gly222del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010230"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 680,
          "referenceAllele": "T",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016135",
      "geneNCBI_id": 128486,
      "geneSymbol": "FITM2",
      "hgvs": [
        "NM_001080472.3:c.576del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073941.1:p.Val193TrpfsTer6",
        "hgvsWellDefined": "NP_001073941.1:p.[Val193_Ile201delinsTrpPro;Val203_Thr209del;Val211_Tyr212del;His214_Gly222del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511238"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 630,
          "referenceAllele": "T",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016135",
      "geneNCBI_id": 128486,
      "geneSymbol": "FITM2",
      "hgvs": [
        "NM_001080472.4:c.576del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073941.1:p.Val193TrpfsTer6",
        "hgvsWellDefined": "NP_001073941.1:p.[Val193_Ile201delinsTrpPro;Val203_Thr209del;Val211_Tyr212del;His214_Gly222del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663298",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396825.4:c.576del"
          },
          "RefSeq": {
            "hgvs": "NM_001080472.4:c.576del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380037.3:p.Val193TrpfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001073941.1:p.Val193TrpfsTer6"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}