{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5970292",
  "communityStandardTitle": [
    "NM_002334.4(LRP4):c.1048+7G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272453[alleleid]",
        "alleleId": 272453,
        "preferredName": "NM_002334.4(LRP4):c.1048+7G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288216",
        "RCV": [
          "RCV000401452",
          "RCV001084755",
          "RCV001102613"
        ],
        "variationId": 288216
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-46917754-C-A",
        "id": "11-46917754-C-A",
        "variant": "11:46917754 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46917754C>A?assembly=hg19",
        "id": "chr11:g.46917754C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46896203C>A?assembly=hg38",
        "id": "chr11:g.46896203C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148557097",
        "rs": 148557097
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46917754-C-A?dataset=gnomad_r2_1",
        "id": "11-46917754-C-A",
        "variant": "11:46917754 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46896203-C-A?dataset=gnomad_r3",
        "id": "11-46896203-C-A",
        "variant": "11:46896203 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-46896203-C-A?dataset=gnomad_r4",
        "id": "11-46896203-C-A",
        "variant": "11:46896203 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46896203,
          "referenceAllele": "C",
          "start": 46896202
        }
      ],
      "hgvs": [
        "NC_000011.10:g.46896203C>A",
        "CM000673.2:g.46896203C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46917754,
          "referenceAllele": "C",
          "start": 46917753
        }
      ],
      "hgvs": [
        "NC_000011.9:g.46917754C>A",
        "CM000673.1:g.46917754C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46874330,
          "referenceAllele": "C",
          "start": 46874329
        }
      ],
      "hgvs": [
        "NC_000011.8:g.46874330C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27420,
          "referenceAllele": "G",
          "start": 27419
        }
      ],
      "hgvs": [
        "NG_021394.1:g.27420G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003621"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1219,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.6:c.1048+7G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:n.1048+7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.1048+7G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.1048+7G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:n.1048+7G>T"
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:n.1048+7G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1291,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.5:c.1048+7G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:n.1048+7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1291,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.3:c.1048+7G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:n.1048+7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1276,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1276,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520102.1:c.1261+7G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518404.1:n.1261+7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.1:c.244+7G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:n.244+7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 361,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.2:c.244+7G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:n.244+7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1208,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_017017734.1:c.1048+7G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873223.1:n.1048+7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1219,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.4:c.1048+7G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:n.1048+7G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.1048+7G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.1048+7G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:n.1048+7G>T"
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:n.1048+7G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}