{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7274971",
  "communityStandardTitle": [
    "NM_014239.4(EIF2B2):c.548del (p.Arg183GlnfsTer9)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-75471553-CG-C",
        "id": "14-75471553-CG-C",
        "variant": "14:75471553 CG / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.75471554del?assembly=hg19",
        "id": "chr14:g.75471554del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.75004851del?assembly=hg38",
        "id": "chr14:g.75004851del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994010",
        "rs": 113994010
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75471553-CG-C?dataset=gnomad_r2_1",
        "id": "14-75471553-CG-C",
        "variant": "14:75471553 CG / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75004850-CG-C?dataset=gnomad_r3",
        "id": "14-75004850-CG-C",
        "variant": "14:75004850 CG / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75004850-CG-C?dataset=gnomad_r4",
        "id": "14-75004850-CG-C",
        "variant": "14:75004850 CG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 75004851,
          "referenceAllele": "G",
          "start": 75004850
        }
      ],
      "hgvs": [
        "NC_000014.9:g.75004851del",
        "CM000676.2:g.75004851del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 75471554,
          "referenceAllele": "G",
          "start": 75471553
        }
      ],
      "hgvs": [
        "NC_000014.8:g.75471554del",
        "CM000676.1:g.75471554del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 74541307,
          "referenceAllele": "G",
          "start": 74541306
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74541307del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6943,
          "referenceAllele": "G",
          "start": 6942
        }
      ],
      "hgvs": [
        "NG_013333.1:g.6943del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002788"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000266126.10:c.548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266126.5:p.Arg183GlnfsTer9",
        "hgvsWellDefined": "ENSP00000266126.5:p.[Arg183_Lys184delinsGln;Lys186_Gln199del;His201_Glu202delinsAsnSer;Ala204_Asn206delinsSer;Ser208_Ile212del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266126.10:c.548del"
          },
          "RefSeq": {
            "hgvs": "NM_014239.4:c.548del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266126.5:p.Arg183GlnfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_055054.1:p.Arg183GlnfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000266126.9:c.548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266126.5:p.Arg183GlnfsTer9",
        "hgvsWellDefined": "ENSP00000266126.5:p.[Arg183_Lys184delinsGln;Lys186_Gln199del;His201_Glu202delinsAsnSer;Ala204_Asn206delinsSer;Ser208_Ile212del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251886"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000553401.5:c.521del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451681.1:p.Arg174GlnfsTer9",
        "hgvsWellDefined": "ENSP00000451681.1:p.[Arg174_Lys175delinsGln;Lys177_Gln190delinsGly;Gln192_Ser200delinsSerMetSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 843,
          "referenceAllele": "G",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000553539.1:n.843del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369936"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000555522.1:n.606del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371498"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "ENST00000556028.5:c.548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452311.1:p.Arg183GlnfsTer9",
        "hgvsWellDefined": "ENSP00000452311.1:p.[Arg183_Lys184delinsGln;Lys186_Val201delinsGlyAsnSerMetSer;Arg203Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "NM_014239.3:c.548del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055054.1:p.Arg183GlnfsTer9",
        "hgvsWellDefined": "NP_055054.1:p.[Arg183_Lys184delinsGln;Lys186_Gln199del;His201_Glu202delinsAsnSer;Ala204_Asn206delinsSer;Ser208_Ile212del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003258",
      "geneNCBI_id": 8892,
      "geneSymbol": "EIF2B2",
      "hgvs": [
        "NM_014239.4:c.548del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055054.1:p.Arg183GlnfsTer9",
        "hgvsWellDefined": "NP_055054.1:p.[Arg183_Lys184delinsGln;Lys186_Gln199del;His201_Glu202delinsAsnSer;Ala204_Asn206delinsSer;Ser208_Ile212del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668247",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266126.10:c.548del"
          },
          "RefSeq": {
            "hgvs": "NM_014239.4:c.548del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266126.5:p.Arg183GlnfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_055054.1:p.Arg183GlnfsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}