{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126558",
  "communityStandardTitle": [
    "NM_000146.4(FTL):c.-175_-170del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31523[alleleid]",
        "alleleId": 31523,
        "preferredName": "NM_000146.4(FTL):c.-175_-170del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16484",
        "RCV": [
          "RCV000017948"
        ],
        "variationId": 16484
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.49468587_49468592del?assembly=hg19",
        "id": "chr19:g.49468587_49468592del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.48965330_48965335del?assembly=hg38",
        "id": "chr19:g.48965330_48965335del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124639",
        "rs": 398124639
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 48965338,
          "referenceAllele": "GTCTCT",
          "start": 48965332
        }
      ],
      "hgvs": [
        "NC_000019.10:g.48965333_48965338del",
        "CM000681.2:g.48965333_48965338del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 49468595,
          "referenceAllele": "GTCTCT",
          "start": 49468589
        }
      ],
      "hgvs": [
        "NC_000019.9:g.49468590_49468595del",
        "CM000681.1:g.49468590_49468595del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 54160407,
          "referenceAllele": "GTCTCT",
          "start": 54160401
        }
      ],
      "hgvs": [
        "NC_000019.8:g.54160402_54160407del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5030,
          "referenceAllele": "GTCTCT",
          "start": 5024
        }
      ],
      "hgvs": [
        "NG_008152.1:g.5025_5030del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000898"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30,
          "referenceAllele": "GTCTCT",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "ENST00000331825.11:c.-175_-170del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366525.2:n.-175_-170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747194",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331825.11:c.-175_-170del"
          },
          "RefSeq": {
            "hgvs": "NM_000146.4:c.-175_-170del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366525.2:n.-175_-170del"
          },
          "RefSeq": {
            "hgvs": "NP_000137.2:n.-175_-170del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 38,
          "referenceAllele": "GTCTCT",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "ENST00000331825.10:c.-175_-170del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366525.2:n.-175_-170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259471"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30,
          "referenceAllele": "GTCTCT",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "ENST00000622577.2:c.-175_-170del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484043.1:n.-175_-170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405799"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30,
          "referenceAllele": "GTCTCT",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "NM_000146.3:c.-175_-170del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000137.2:n.-175_-170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006208"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 341,
          "referenceAllele": "GTCTCT",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "XM_024451447.1:c.336_341del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307215.1:p.Ser113_Leu114del",
        "hgvsWellDefined": "XP_024307215.1:p.Ser113_Leu114del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584962"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30,
          "referenceAllele": "GTCTCT",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "NM_000146.4:c.-175_-170del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000137.2:n.-175_-170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662327",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331825.11:c.-175_-170del"
          },
          "RefSeq": {
            "hgvs": "NM_000146.4:c.-175_-170del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366525.2:n.-175_-170del"
          },
          "RefSeq": {
            "hgvs": "NP_000137.2:n.-175_-170del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}