{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA335259",
  "communityStandardTitle": [
    "NM_033118.4(MYLK2):c.1173_1174del (p.Cys391Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198523[alleleid]",
        "alleleId": 198523,
        "preferredName": "NM_033118.4(MYLK2):c.1173_1174del (p.Cys391_Asp392delinsTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201865",
        "RCV": [
          "RCV000183562"
        ],
        "variationId": 201865
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.30414690_30414691del?assembly=hg19",
        "id": "chr20:g.30414690_30414691del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.30414688_30414689del?assembly=hg19",
        "id": "chr20:g.30414688_30414689del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.31826887_31826888del?assembly=hg38",
        "id": "chr20:g.31826887_31826888del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.31826885_31826886del?assembly=hg38",
        "id": "chr20:g.31826885_31826886del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794729067",
        "rs": 794729067
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 31826888,
          "referenceAllele": "TG",
          "start": 31826886
        }
      ],
      "hgvs": [
        "NC_000020.11:g.31826887_31826888del",
        "CM000682.2:g.31826887_31826888del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 30414691,
          "referenceAllele": "TG",
          "start": 30414689
        }
      ],
      "hgvs": [
        "NC_000020.10:g.30414690_30414691del",
        "CM000682.1:g.30414690_30414691del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 29878352,
          "referenceAllele": "TG",
          "start": 29878350
        }
      ],
      "hgvs": [
        "NC_000020.9:g.29878351_29878352del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12514,
          "referenceAllele": "TG",
          "start": 12512
        }
      ],
      "hgvs": [
        "NG_012847.1:g.12513_12514del",
        "LRG_392:g.12513_12514del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1295,
          "referenceAllele": "TG",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "ENST00000375985.5:c.1173_1174del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365152.4:p.Cys391Ter",
        "hgvsWellDefined": "ENSP00000365152.4:p.Cys391_Leu421del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375985.5:c.1173_1174del"
          },
          "RefSeq": {
            "hgvs": "NM_033118.4:c.1173_1174del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365152.4:p.Cys391Ter"
          },
          "RefSeq": {
            "hgvs": "NP_149109.1:p.Cys391Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1278,
          "referenceAllele": "TG",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "ENST00000375985.4:c.1173_1174del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365152.4:p.Cys391Ter",
        "hgvsWellDefined": "ENSP00000365152.4:p.Cys391_Leu421del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1447,
          "referenceAllele": "TG",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "ENST00000375994.6:c.1173_1174del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365162.2:p.Cys391Ter",
        "hgvsWellDefined": "ENSP00000365162.2:p.Cys391_Leu421del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270966"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 112,
          "referenceAllele": "TG",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "ENST00000468730.1:n.111_112del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139762396",
      "coordinates": [
        {
          "allele": "",
          "end": 1276,
          "referenceAllele": "TG",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "NM_033118.3:c.1173_1174del",
        "LRG_392t1:c.1173_1174del"
      ],
      "proteinEffect": {
        "hgvs": "NP_149109.1:p.Cys391Ter",
        "hgvsWellDefined": "NP_149109.1:p.Cys391_Leu421del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039541"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1825,
          "referenceAllele": "TG",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "XR_244155.1:n.1824_1825del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139762396",
      "coordinates": [
        {
          "allele": "",
          "end": 1295,
          "referenceAllele": "TG",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "NM_033118.4:c.1173_1174del"
      ],
      "proteinEffect": {
        "hgvs": "NP_149109.1:p.Cys391Ter",
        "hgvsWellDefined": "NP_149109.1:p.Cys391_Leu421del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699273",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375985.5:c.1173_1174del"
          },
          "RefSeq": {
            "hgvs": "NM_033118.4:c.1173_1174del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365152.4:p.Cys391Ter"
          },
          "RefSeq": {
            "hgvs": "NP_149109.1:p.Cys391Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}