{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA217648",
  "communityStandardTitle": [
    "NM_021076.4(NEFH):c.2232_2249del (p.Ser752_Lys757del)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1291235",
        "active": true,
        "id": "COSM1291235"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77635[alleleid]",
        "alleleId": 77635,
        "preferredName": "NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1])"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66738",
        "RCV": [
          "RCV000057190",
          "RCV000990404"
        ],
        "variationId": 66738
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-29885858-AGCTAAGTCCCCAGAGAAG-A",
        "id": "22-29885858-AGCTAAGTCCCCAGAGAAG-A",
        "variant": "22:29885858 AGCTAAGTCCCCAGAGAAG / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29885859_29885876del?assembly=hg19",
        "id": "chr22:g.29885859_29885876del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29489871_29489888del?assembly=hg38",
        "id": "chr22:g.29489871_29489888del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29489870_29489887del?assembly=hg38",
        "id": "chr22:g.29489870_29489887del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/59890097",
        "rs": 59890097
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-29885858-AGCTAAGTCCCCAGAGAAG-A?dataset=gnomad_r2_1",
        "id": "22-29885858-AGCTAAGTCCCCAGAGAAG-A",
        "variant": "22:29885858 AGCTAAGTCCCCAGAGAAG / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-29489869-AGCTAAGTCCCCAGAGAAG-A?dataset=gnomad_r3",
        "id": "22-29489869-AGCTAAGTCCCCAGAGAAG-A",
        "variant": "22:29489869 AGCTAAGTCCCCAGAGAAG / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-29489869-AGCTAAGTCCCCAGAGAAG-A?dataset=gnomad_r4",
        "id": "22-29489869-AGCTAAGTCCCCAGAGAAG-A",
        "variant": "22:29489869 AGCTAAGTCCCCAGAGAAG / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 29489889,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 29489871
        }
      ],
      "hgvs": [
        "NC_000022.11:g.29489872_29489889del",
        "CM000684.2:g.29489872_29489889del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 29885878,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 29885860
        }
      ],
      "hgvs": [
        "NC_000022.10:g.29885861_29885878del",
        "CM000684.1:g.29885861_29885878del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 28215878,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 28215860
        }
      ],
      "hgvs": [
        "NC_000022.9:g.28215861_28215878del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14698,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 14680
        }
      ],
      "hgvs": [
        "NG_008404.1:g.14681_14698del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2294,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007737",
      "geneNCBI_id": 4744,
      "geneSymbol": "NEFH",
      "hgvs": [
        "ENST00000310624.7:c.2232_2249del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311997.6:p.Lys745_Ala750del",
        "hgvsWellDefined": "ENSP00000311997.6:p.Ser752_Lys757del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310624.7:c.2232_2249del"
          },
          "RefSeq": {
            "hgvs": "NM_021076.4:c.2232_2249del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311997.6:p.Lys745_Ala750del"
          },
          "RefSeq": {
            "hgvs": "NP_066554.2:p.Lys745_Ala750del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2282,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007737",
      "geneNCBI_id": 4744,
      "geneSymbol": "NEFH",
      "hgvs": [
        "ENST00000310624.6:c.2232_2249del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311997.6:p.Lys745_Ala750del",
        "hgvsWellDefined": "ENSP00000311997.6:p.Ser752_Lys757del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217649",
      "coordinates": [
        {
          "allele": "",
          "end": 2320,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007737",
      "geneNCBI_id": 4744,
      "geneSymbol": "NEFH",
      "hgvs": [
        "NM_021076.3:c.2232_2249del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066554.2:p.Lys745_Ala750del",
        "hgvsWellDefined": "NP_066554.2:p.Ser752_Lys757del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1971,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007737",
      "geneNCBI_id": 4744,
      "geneSymbol": "NEFH",
      "hgvs": [
        "XM_011530200.1:c.1944_1961del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528502.1:p.Lys649_Ala654del",
        "hgvsWellDefined": "XP_011528502.1:p.Ser656_Lys661del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097258"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1998,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007737",
      "geneNCBI_id": 4744,
      "geneSymbol": "NEFH",
      "hgvs": [
        "XM_011530200.2:c.1944_1961del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528502.1:p.Lys649_Ala654del",
        "hgvsWellDefined": "XP_011528502.1:p.Ser656_Lys661del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549860"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217649",
      "coordinates": [
        {
          "allele": "",
          "end": 2294,
          "referenceAllele": "TAAGTCCCCAGAGAAGGC",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007737",
      "geneNCBI_id": 4744,
      "geneSymbol": "NEFH",
      "hgvs": [
        "NM_021076.4:c.2232_2249del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066554.2:p.Lys745_Ala750del",
        "hgvsWellDefined": "NP_066554.2:p.Ser752_Lys757del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698369",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310624.7:c.2232_2249del"
          },
          "RefSeq": {
            "hgvs": "NM_021076.4:c.2232_2249del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311997.6:p.Lys745_Ala750del"
          },
          "RefSeq": {
            "hgvs": "NP_066554.2:p.Lys745_Ala750del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}