{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1692921",
  "communityStandardTitle": [
    "NM_032208.3(ANTXR1):c.561+6G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2232964[alleleid]",
        "alleleId": 2232964,
        "preferredName": "NM_032208.3(ANTXR1):c.561+6G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2241375",
        "RCV": [
          "RCV002747450"
        ],
        "variationId": 2241375
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-69302796-G-A",
        "id": "2-69302796-G-A",
        "variant": "2:69302796 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.69302796G>A?assembly=hg19",
        "id": "chr2:g.69302796G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.69075664G>A?assembly=hg38",
        "id": "chr2:g.69075664G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776436815",
        "rs": 776436815
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-69302796-G-A?dataset=gnomad_r2_1",
        "id": "2-69302796-G-A",
        "variant": "2:69302796 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-69075664-G-A?dataset=gnomad_r3",
        "id": "2-69075664-G-A",
        "variant": "2:69075664 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-69075664-G-A?dataset=gnomad_r4",
        "id": "2-69075664-G-A",
        "variant": "2:69075664 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 69075664,
          "referenceAllele": "G",
          "start": 69075663
        }
      ],
      "hgvs": [
        "NC_000002.12:g.69075664G>A",
        "CM000664.2:g.69075664G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 69302796,
          "referenceAllele": "G",
          "start": 69302795
        }
      ],
      "hgvs": [
        "NC_000002.11:g.69302796G>A",
        "CM000664.1:g.69302796G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 69156300,
          "referenceAllele": "G",
          "start": 69156299
        }
      ],
      "hgvs": [
        "NC_000002.10:g.69156300G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67521,
          "referenceAllele": "G",
          "start": 67520
        }
      ],
      "hgvs": [
        "NG_012649.1:g.67521G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002504"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 882,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000303714.9:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301945.4:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303714.9:c.561+6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032208.3:c.561+6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301945.4:n.561+6G>A"
          },
          "RefSeq": {
            "hgvs": "NP_115584.1:n.561+6G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000463335.2:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506719.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000481119.2:n.891G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000482235.2:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430776.2:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 404,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000679548.1:c.404+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 621,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 621,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000681816.1:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505171.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 883,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000303714.8:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301945.4:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000409349.7:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386494.3:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000409829.7:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387058.3:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000463335.1:n.704+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 56,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "ENST00000482235.1:c.56+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 917,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "NM_018153.3:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060623.2:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 917,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "NM_032208.2:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115584.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 917,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "NM_053034.2:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_444262.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 708,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "XM_011533124.1:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531426.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 708,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "XR_939725.1:n.708+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 708,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "XR_939726.1:n.708+6G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 706,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "XM_017005075.2:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860564.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 706,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "XM_017005076.2:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860565.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 706,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "XM_017005077.2:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860566.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 882,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021014",
      "geneNCBI_id": 84168,
      "geneSymbol": "ANTXR1",
      "hgvs": [
        "NM_032208.3:c.561+6G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115584.1:n.561+6G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303714.9:c.561+6G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032208.3:c.561+6G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301945.4:n.561+6G>A"
          },
          "RefSeq": {
            "hgvs": "NP_115584.1:n.561+6G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}