{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA010340",
  "communityStandardTitle": [
    "NM_000432.4(MYL2):c.431del (p.Pro144LeufsTer3)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1685699",
        "active": true,
        "id": "COSM1685699"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189893[alleleid]",
        "alleleId": 189893,
        "preferredName": "NM_000432.4(MYL2):c.431del (p.Pro144fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191580",
        "RCV": [
          "RCV000171842",
          "RCV000618518",
          "RCV001553792",
          "RCV001852081"
        ],
        "variationId": 191580
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-111348950-AG-A",
        "id": "12-111348950-AG-A",
        "variant": "12:111348950 AG / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.111348956del?assembly=hg19",
        "id": "chr12:g.111348956del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.111348951del?assembly=hg19",
        "id": "chr12:g.111348951del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110911152del?assembly=hg38",
        "id": "chr12:g.110911152del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110911147del?assembly=hg38",
        "id": "chr12:g.110911147del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205430",
        "rs": 786205430
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-111348950-AG-A?dataset=gnomad_r2_1",
        "id": "12-111348950-AG-A",
        "variant": "12:111348950 AG / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-110911146-AG-A?dataset=gnomad_r3",
        "id": "12-110911146-AG-A",
        "variant": "12:110911146 AG / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-110911146-AG-A?dataset=gnomad_r4",
        "id": "12-110911146-AG-A",
        "variant": "12:110911146 AG / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 110911152,
          "referenceAllele": "G",
          "start": 110911151
        }
      ],
      "hgvs": [
        "NC_000012.12:g.110911152del",
        "CM000674.2:g.110911152del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 111348956,
          "referenceAllele": "G",
          "start": 111348955
        }
      ],
      "hgvs": [
        "NC_000012.11:g.111348956del",
        "CM000674.1:g.111348956del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 109833339,
          "referenceAllele": "G",
          "start": 109833338
        }
      ],
      "hgvs": [
        "NC_000012.10:g.109833339del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14431,
          "referenceAllele": "C",
          "start": 14430
        }
      ],
      "hgvs": [
        "NG_007554.1:g.14431del",
        "LRG_393:g.14431del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000644"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000228841.15:c.431del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228841.8:p.Pro144LeufsTer3",
        "hgvsWellDefined": "ENSP00000228841.8:p.[Pro144_Asn149del;Asp151_Ile159del;His161Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228841.15:c.431del"
          },
          "RefSeq": {
            "hgvs": "NM_000432.4:c.431del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228841.8:p.Pro144LeufsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000423.2:p.Pro144LeufsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000663220.1:c.374del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499568.1:p.Pro125LeufsTer3",
        "hgvsWellDefined": "ENSP00000499568.1:p.[Pro125_Asn130del;Asp132_Ile140del;His142Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000228841.12:c.431del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228841.7:p.Pro144LeufsTer3",
        "hgvsWellDefined": "ENSP00000228841.7:p.[Pro144_Asn149del;Asp151_Ile159del;His161Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247255"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "ENST00000548438.1:c.389del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447154.1:p.Pro130LeufsTer3",
        "hgvsWellDefined": "ENSP00000447154.1:p.[Pro130_Asn135del;Asp137_Ile145del;His147Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "NM_000432.3:c.431del",
        "LRG_393t1:c.431del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000423.2:p.Pro144LeufsTer3",
        "hgvsWellDefined": "NP_000423.2:p.[Pro144_Asn149del;Asp151_Ile159del;His161Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "NM_000432.4:c.431del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000423.2:p.Pro144LeufsTer3",
        "hgvsWellDefined": "NP_000423.2:p.[Pro144_Asn149del;Asp151_Ile159del;His161Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228841.15:c.431del"
          },
          "RefSeq": {
            "hgvs": "NM_000432.4:c.431del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228841.8:p.Pro144LeufsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000423.2:p.Pro144LeufsTer3"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}