{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278114",
  "communityStandardTitle": [
    "NM_000033.4(ABCD1):c.1552del (p.Arg518GlyfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26345[alleleid]",
        "alleleId": 26345,
        "preferredName": "NM_000033.4(ABCD1):c.1552del (p.Arg518fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11306",
        "RCV": [
          "RCV000012058"
        ],
        "variationId": 11306
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153005609del?assembly=hg19",
        "id": "chrX:g.153005609del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153740155del?assembly=hg38",
        "id": "chrX:g.153740155del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906495",
        "rs": 387906495
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 153740155,
          "referenceAllele": "C",
          "start": 153740154
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153740155del",
        "CM000685.2:g.153740155del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 153005609,
          "referenceAllele": "C",
          "start": 153005608
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153005609del",
        "CM000685.1:g.153005609del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 152658803,
          "referenceAllele": "C",
          "start": 152658802
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152658803del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 20288,
          "referenceAllele": "C",
          "start": 20287
        }
      ],
      "hgvs": [
        "NG_009022.2:g.20288del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1963,
          "referenceAllele": "C",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.6:c.1552del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Arg518GlyfsTer?",
        "hgvsWellDefined": "ENSP00000218104.3:p.[Arg518_Gly521delinsGlySerTrpVal;Leu523_Trp524delinsSerGly;Thr526_Lys533delinsArgThrValValCysSerThrSer;Pro535His;Gln537_Arg545delinsSerAlaCysSerThrSerArgArgGly;Tyr547Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.1552del"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.1552del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Arg518GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Arg518GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000218104.5:c.1552del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218104.3:p.Arg518GlyfsTer?",
        "hgvsWellDefined": "ENSP00000218104.3:p.[Arg518_Gly521delinsGlySerTrpVal;Leu523_Trp524delinsSerGly;Thr526_Lys533delinsArgThrValValCysSerThrSer;Pro535His;Gln537_Arg545delinsSerAlaCysSerThrSerArgArgGly;Tyr547Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "ENST00000443684.2:n.555del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.3:c.1552del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Arg518GlyfsTer?",
        "hgvsWellDefined": "NP_000024.2:p.[Arg518_Gly521delinsGlySerTrpVal;Leu523_Trp524delinsSerGly;Thr526_Lys533delinsArgThrValValCysSerThrSer;Pro535His;Gln537_Arg545delinsSerAlaCysSerThrSerArgArgGly;Tyr547Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006098"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.1:n.2024del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133205"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "XR_938507.2:n.2024del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1963,
          "referenceAllele": "C",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NM_000033.4:c.1552del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000024.2:p.Arg518GlyfsTer?",
        "hgvsWellDefined": "NP_000024.2:p.[Arg518_Gly521delinsGlySerTrpVal;Leu523_Trp524delinsSerGly;Thr526_Lys533delinsArgThrValValCysSerThrSer;Pro535His;Gln537_Arg545delinsSerAlaCysSerThrSerArgArgGly;Tyr547Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218104.6:c.1552del"
          },
          "RefSeq": {
            "hgvs": "NM_000033.4:c.1552del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218104.3:p.Arg518GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000024.2:p.Arg518GlyfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}