{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620720",
  "communityStandardTitle": [
    "NM_005559.4(LAMA1):c.1243del (p.His415IlefsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410412[alleleid]",
        "alleleId": 410412,
        "preferredName": "NM_005559.4(LAMA1):c.1243del (p.His415fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419085",
        "RCV": [
          "RCV000485226"
        ],
        "variationId": 419085
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.7042162del?assembly=hg19",
        "id": "chr18:g.7042162del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.7042163del?assembly=hg38",
        "id": "chr18:g.7042163del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793632",
        "rs": 1064793632
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-7042162-TG-T?dataset=gnomad_r4",
        "id": "18-7042162-TG-T",
        "variant": "18:7042162 TG / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 7042164,
          "referenceAllele": "G",
          "start": 7042163
        }
      ],
      "hgvs": [
        "NC_000018.10:g.7042164del",
        "CM000680.2:g.7042164del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 7042163,
          "referenceAllele": "G",
          "start": 7042162
        }
      ],
      "hgvs": [
        "NC_000018.9:g.7042163del",
        "CM000680.1:g.7042163del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "",
          "end": 7032163,
          "referenceAllele": "G",
          "start": 7032162
        }
      ],
      "hgvs": [
        "NC_000018.8:g.7032163del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 80652,
          "referenceAllele": "C",
          "start": 80651
        }
      ],
      "hgvs": [
        "NG_034251.1:g.80652del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005827"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006481",
      "geneNCBI_id": 284217,
      "geneSymbol": "LAMA1",
      "hgvs": [
        "ENST00000389658.4:c.1243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374309.3:p.His415IlefsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752829",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389658.4:c.1243del"
          },
          "RefSeq": {
            "hgvs": "NM_005559.4:c.1243del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374309.3:p.His415IlefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005550.2:p.His415IlefsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006481",
      "geneNCBI_id": 284217,
      "geneSymbol": "LAMA1",
      "hgvs": [
        "ENST00000389658.3:c.1243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374309.3:p.His415IlefsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274261"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2258,
          "referenceAllele": "C",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006481",
      "geneNCBI_id": 284217,
      "geneSymbol": "LAMA1",
      "hgvs": [
        "ENST00000579014.5:n.2258del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385642"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006481",
      "geneNCBI_id": 284217,
      "geneSymbol": "LAMA1",
      "hgvs": [
        "NM_005559.3:c.1243del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005550.2:p.His415IlefsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030650"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006481",
      "geneNCBI_id": 284217,
      "geneSymbol": "LAMA1",
      "hgvs": [
        "XM_011525655.1:c.1243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523957.1:p.His415IlefsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092773"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006481",
      "geneNCBI_id": 284217,
      "geneSymbol": "LAMA1",
      "hgvs": [
        "XM_011525657.1:c.1243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523959.1:p.His415IlefsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092775"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006481",
      "geneNCBI_id": 284217,
      "geneSymbol": "LAMA1",
      "hgvs": [
        "XM_011525655.2:c.1243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523957.1:p.His415IlefsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547962"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006481",
      "geneNCBI_id": 284217,
      "geneSymbol": "LAMA1",
      "hgvs": [
        "NM_005559.4:c.1243del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005550.2:p.His415IlefsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389658.4:c.1243del"
          },
          "RefSeq": {
            "hgvs": "NM_005559.4:c.1243del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374309.3:p.His415IlefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005550.2:p.His415IlefsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}