{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040686",
  "communityStandardTitle": [
    "NM_005562.3(LAMC2):c.3357del (p.Leu1120TrpfsTer22)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357026[alleleid]",
        "alleleId": 357026,
        "preferredName": "NM_005562.3(LAMC2):c.3357del (p.Leu1120fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370421",
        "RCV": [
          "RCV000409003",
          "RCV003558358"
        ],
        "variationId": 370421
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183212310del?assembly=hg19",
        "id": "chr1:g.183212310del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183243175del?assembly=hg38",
        "id": "chr1:g.183243175del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516473",
        "rs": 1057516473
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 183243175,
          "referenceAllele": "G",
          "start": 183243174
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183243175del",
        "CM000663.2:g.183243175del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 183212310,
          "referenceAllele": "G",
          "start": 183212309
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183212310del",
        "CM000663.1:g.183212310del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 181478933,
          "referenceAllele": "G",
          "start": 181478932
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181478933del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 61912,
          "referenceAllele": "G",
          "start": 61911
        }
      ],
      "hgvs": [
        "NG_007079.2:g.61912del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000459"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3446,
          "referenceAllele": "G",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.5:c.3357del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Leu1120TrpfsTer22",
        "hgvsWellDefined": "ENSP00000264144.4:p.[Leu1120_Leu1127delinsTrpSerTyrTrp;Ala1130_Leu1138delinsSerPheProGluPro;Met1141_Met1142delinsArg;Glu1144_Ala1149delinsThrAlaAsnCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.3357del"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.3357del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Leu1120TrpfsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Leu1120TrpfsTer22"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3422,
          "referenceAllele": "G",
          "start": 3421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.4:c.3357del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Leu1120TrpfsTer22",
        "hgvsWellDefined": "ENSP00000264144.4:p.[Leu1120_Leu1127delinsTrpSerTyrTrp;Ala1130_Leu1138delinsSerPheProGluPro;Met1141_Met1142delinsArg;Glu1144_Ala1149delinsThrAlaAsnCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3671,
          "referenceAllele": "G",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.2:c.3357del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Leu1120TrpfsTer22",
        "hgvsWellDefined": "NP_005553.2:p.[Leu1120_Leu1127delinsTrpSerTyrTrp;Ala1130_Leu1138delinsSerPheProGluPro;Met1141_Met1142delinsArg;Glu1144_Ala1149delinsThrAlaAsnCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030653"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3446,
          "referenceAllele": "G",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.3:c.3357del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Leu1120TrpfsTer22",
        "hgvsWellDefined": "NP_005553.2:p.[Leu1120_Leu1127delinsTrpSerTyrTrp;Ala1130_Leu1138delinsSerPheProGluPro;Met1141_Met1142delinsArg;Glu1144_Ala1149delinsThrAlaAsnCysGlyPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.3357del"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.3357del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Leu1120TrpfsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Leu1120TrpfsTer22"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}