{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040687",
  "communityStandardTitle": [
    "NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357028[alleleid]",
        "alleleId": 357028,
        "preferredName": "NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370323",
        "RCV": [
          "RCV000408972"
        ],
        "variationId": 370323
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209788617_209788618del?assembly=hg19",
        "id": "chr1:g.209788617_209788618del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209615272_209615273del?assembly=hg38",
        "id": "chr1:g.209615272_209615273del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516400",
        "rs": 1057516400
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 209615274,
          "referenceAllele": "AC",
          "start": 209615272
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209615273_209615274del",
        "CM000663.2:g.209615273_209615274del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 209788619,
          "referenceAllele": "AC",
          "start": 209788617
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209788618_209788619del",
        "CM000663.1:g.209788618_209788619del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 207855242,
          "referenceAllele": "AC",
          "start": 207855240
        }
      ],
      "hgvs": [
        "NC_000001.9:g.207855241_207855242del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 42204,
          "referenceAllele": "GT",
          "start": 42202
        }
      ],
      "hgvs": [
        "NG_007116.1:g.42203_42204del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3612,
          "referenceAllele": "GT",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.9:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Ter1173MetextTer?",
        "hgvsWellDefined": "ENSP00000348384.3:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.3517_3518del"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.3517_3518del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Ter1173MetextTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Ter1173MetextTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3653,
          "referenceAllele": "GT",
          "start": 3651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.8:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Ter1173MetextTer?",
        "hgvsWellDefined": "ENSP00000348384.3:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263639"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3636,
          "referenceAllele": "GT",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000367030.7:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355997.3:p.Ter1173MetextTer?",
        "hgvsWellDefined": "ENSP00000355997.3:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3908,
          "referenceAllele": "GT",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000391911.5:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375778.1:p.Ter1173MetextTer?",
        "hgvsWellDefined": "ENSP00000375778.1:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3662,
          "referenceAllele": "GT",
          "start": 3660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.2:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Ter1173MetextTer?",
        "hgvsWellDefined": "NP_000219.2:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006291"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3908,
          "referenceAllele": "GT",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.1:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Ter1173MetextTer?",
        "hgvsWellDefined": "NP_001017402.1:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008570"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3636,
          "referenceAllele": "GT",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001127641.1:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121113.1:p.Ter1173MetextTer?",
        "hgvsWellDefined": "NP_001121113.1:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3840,
          "referenceAllele": "GT",
          "start": 3838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.3:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Ter1173MetextTer?",
        "hgvsWellDefined": "XP_005273181.1:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3844,
          "referenceAllele": "GT",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.4:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Ter1173MetextTer?",
        "hgvsWellDefined": "XP_005273181.1:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537386"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3462,
          "referenceAllele": "GT",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_017001272.2:c.3325_3326del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856761.1:p.Ter1109MetextTer?",
        "hgvsWellDefined": "XP_016856761.1:p.Lys1108_Ter1109insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3612,
          "referenceAllele": "GT",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.3:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Ter1173MetextTer?",
        "hgvsWellDefined": "NP_000219.2:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.3517_3518del"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.3517_3518del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Ter1173MetextTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Ter1173MetextTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3948,
          "referenceAllele": "GT",
          "start": 3946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.2:c.3517_3518del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Ter1173MetextTer?",
        "hgvsWellDefined": "NP_001017402.1:p.Lys1172_Ter1173insMetLeuGlnLeuProAlaArgCysProThrHisLeuProProLeuLeuLeuValGlyGlyArgLeuGlyTrpAsnAlaPheHisLeuGln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711378"
    }
  ],
  "type": "nucleotide"
}