{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041932",
  "communityStandardTitle": [
    "NM_198129.4(LAMA3):c.5688dup (p.Asp1897Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358553[alleleid]",
        "alleleId": 358553,
        "preferredName": "NM_198129.4(LAMA3):c.5688dup (p.Asp1897Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371489",
        "RCV": [
          "RCV000412128"
        ],
        "variationId": 371489
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21478776dupT?assembly=hg19",
        "id": "chr18:g.21478776dupT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23898812dupT?assembly=hg38",
        "id": "chr18:g.23898812dupT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517314",
        "rs": 1057517314
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 23898812,
          "referenceAllele": "",
          "start": 23898812
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23898812dup",
        "CM000680.2:g.23898812dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 21478776,
          "referenceAllele": "",
          "start": 21478776
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21478776dup",
        "CM000680.1:g.21478776dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 19732774,
          "referenceAllele": "",
          "start": 19732774
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19732774dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214215,
          "referenceAllele": "",
          "start": 214215
        }
      ],
      "hgvs": [
        "NG_007853.2:g.214215dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000677"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.11:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743099",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.861dup"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.861dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Asp288Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Asp288Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5919,
          "referenceAllele": "",
          "start": 5919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.14:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5688dup"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5688dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Asp1897Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Asp1897Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2580,
          "referenceAllele": "",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000649721.1:c.2580dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497885.1:p.Asp861Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000269217.10:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269217.5:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5929,
          "referenceAllele": "",
          "start": 5929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000313654.13:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324532.8:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5688,
          "referenceAllele": "",
          "start": 5688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000399516.7:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382432.2:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000586709.1:n.76dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000586751.5:c.466dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "referenceAllele": "",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000587184.5:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466557.1:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "referenceAllele": "",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "ENST00000588770.5:n.266dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.4:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5929,
          "referenceAllele": "",
          "start": 5929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.2:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.2:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5929,
          "referenceAllele": "",
          "start": 5929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.2:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5956,
          "referenceAllele": "",
          "start": 5956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.1:c.5715dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Asp1906Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5947,
          "referenceAllele": "",
          "start": 5947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.1:c.5706dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Asp1903Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5938,
          "referenceAllele": "",
          "start": 5938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.1:c.5697dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Asp1900Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5824,
          "referenceAllele": "",
          "start": 5824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.1:c.5583dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Asp1862Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5956,
          "referenceAllele": "",
          "start": 5956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.1:c.5715dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Asp1906Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5956,
          "referenceAllele": "",
          "start": 5956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525978.2:c.5715dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524280.1:p.Asp1906Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5947,
          "referenceAllele": "",
          "start": 5947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525979.2:c.5706dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524281.1:p.Asp1903Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5938,
          "referenceAllele": "",
          "start": 5938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525980.2:c.5697dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524282.1:p.Asp1900Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5824,
          "referenceAllele": "",
          "start": 5824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525981.2:c.5583dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524283.1:p.Asp1862Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5956,
          "referenceAllele": "",
          "start": 5956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_011525982.2:c.5715dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524284.1:p.Asp1906Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3640,
          "referenceAllele": "",
          "start": 3640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025743.1:c.3567dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881232.1:p.Asp1190Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2321,
          "referenceAllele": "",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XM_017025744.1:c.1257dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881233.1:p.Asp420Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5956,
          "referenceAllele": "",
          "start": 5956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "XR_001753199.1:n.5956dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.5:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5919,
          "referenceAllele": "",
          "start": 5919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.3:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.3:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5919,
          "referenceAllele": "",
          "start": 5919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.3:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_000227.6:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000218.3:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269217.11:c.861dup"
          },
          "RefSeq": {
            "hgvs": "NM_000227.6:c.861dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269217.5:p.Asp288Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000218.3:p.Asp288Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5919,
          "referenceAllele": "",
          "start": 5919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127717.4:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121189.2:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_001127718.4:c.861dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121190.2:p.Asp288Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5919,
          "referenceAllele": "",
          "start": 5919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NM_198129.4:c.5688dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_937762.2:p.Asp1897Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313654.14:c.5688dup"
          },
          "RefSeq": {
            "hgvs": "NM_198129.4:c.5688dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324532.8:p.Asp1897Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937762.2:p.Asp1897Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}