{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16619416",
  "communityStandardTitle": [
    "NM_000372.5(TYR):c.806_808del (p.Phe269del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408494[alleleid]",
        "alleleId": 408494,
        "preferredName": "NM_000372.5(TYR):c.803TCT[1] (p.Phe269del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422828",
        "RCV": [
          "RCV000478390"
        ],
        "variationId": 422828
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88911927_88911929del?assembly=hg19",
        "id": "chr11:g.88911927_88911929del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88911923_88911925del?assembly=hg19",
        "id": "chr11:g.88911923_88911925del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.89178759_89178761del?assembly=hg38",
        "id": "chr11:g.89178759_89178761del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.89178755_89178757del?assembly=hg38",
        "id": "chr11:g.89178755_89178757del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796028",
        "rs": 1064796028
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-89178754-ATTC-A?dataset=gnomad_r3",
        "id": "11-89178754-ATTC-A",
        "variant": "11:89178754 ATTC / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-89178754-ATTC-A?dataset=gnomad_r4",
        "id": "11-89178754-ATTC-A",
        "variant": "11:89178754 ATTC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 89178761,
          "referenceAllele": "TCT",
          "start": 89178758
        }
      ],
      "hgvs": [
        "NC_000011.10:g.89178759_89178761del",
        "CM000673.2:g.89178759_89178761del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 88911929,
          "referenceAllele": "TCT",
          "start": 88911926
        }
      ],
      "hgvs": [
        "NC_000011.9:g.88911927_88911929del",
        "CM000673.1:g.88911927_88911929del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 88551577,
          "referenceAllele": "TCT",
          "start": 88551574
        }
      ],
      "hgvs": [
        "NC_000011.8:g.88551575_88551577del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5890,
          "referenceAllele": "TCT",
          "start": 5887
        }
      ],
      "hgvs": [
        "NG_008748.1:g.5888_5890del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001197"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 887,
          "referenceAllele": "TCT",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000263321.6:c.806_808del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263321.4:p.Phe269del",
        "hgvsWellDefined": "ENSP00000263321.4:p.Phe269del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742496",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263321.6:c.806_808del"
          },
          "RefSeq": {
            "hgvs": "NM_000372.5:c.806_808del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263321.4:p.Phe269del"
          },
          "RefSeq": {
            "hgvs": "NP_000363.1:p.Phe269del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1310,
          "referenceAllele": "TCT",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000263321.5:c.806_808del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263321.4:p.Phe269del",
        "hgvsWellDefined": "ENSP00000263321.4:p.Phe269del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 869,
          "referenceAllele": "TCT",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000526139.1:n.867_869del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645419770",
      "coordinates": [
        {
          "allele": "",
          "end": 890,
          "referenceAllele": "TCT",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NM_000372.4:c.806_808del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000363.1:p.Phe269del",
        "hgvsWellDefined": "NP_000363.1:p.Phe269del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006434"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 904,
          "referenceAllele": "TCT",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "XM_011542970.1:c.806_808del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541272.1:p.Phe269del",
        "hgvsWellDefined": "XP_011541272.1:p.Phe269del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1197,
          "referenceAllele": "TCT",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "XM_011542970.2:c.806_808del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541272.1:p.Phe269del",
        "hgvsWellDefined": "XP_011541272.1:p.Phe269del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2717,
          "endIntronDirection": "-",
          "endIntronOffset": 65221,
          "referenceAllele": "AAG",
          "start": 2717,
          "startIntronDirection": "-",
          "startIntronOffset": 65224
        }
      ],
      "hgvs": [
        "XR_001748321.1:n.2718-65224_2718-65222del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596352"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2732,
          "endIntronDirection": "-",
          "endIntronOffset": 65221,
          "referenceAllele": "AAG",
          "start": 2732,
          "startIntronDirection": "-",
          "startIntronOffset": 65224
        }
      ],
      "hgvs": [
        "XR_001748322.1:n.2733-65224_2733-65222del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645419770",
      "coordinates": [
        {
          "allele": "",
          "end": 887,
          "referenceAllele": "TCT",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NM_000372.5:c.806_808del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000363.1:p.Phe269del",
        "hgvsWellDefined": "NP_000363.1:p.Phe269del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263321.6:c.806_808del"
          },
          "RefSeq": {
            "hgvs": "NM_000372.5:c.806_808del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263321.4:p.Phe269del"
          },
          "RefSeq": {
            "hgvs": "NP_000363.1:p.Phe269del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}