{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3060585848",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.2092_2093delinsAG (p.Ala698Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4010155[alleleid]",
        "alleleId": 4010155,
        "preferredName": "NM_000090.4(COL3A1):c.2092_2093delinsAG (p.Ala698Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3894274",
        "RCV": [
          "RCV005401776"
        ],
        "variationId": 3894274
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "AG",
          "end": 188999355,
          "referenceAllele": "GC",
          "start": 188999353
        }
      ],
      "hgvs": [
        "NC_000002.12:g.188999354_188999355delinsAG",
        "CM000664.2:g.188999354_188999355delinsAG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "AG",
          "end": 189864081,
          "referenceAllele": "GC",
          "start": 189864079
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189864080_189864081delinsAG",
        "CM000664.1:g.189864080_189864081delinsAG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "AG",
          "end": 189572326,
          "referenceAllele": "GC",
          "start": 189572324
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189572325_189572326delinsAG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 29983,
          "referenceAllele": "GC",
          "start": 29981
        }
      ],
      "hgvs": [
        "NG_007404.1:g.29982_29983delinsAG",
        "LRG_3:g.29982_29983delinsAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 2111,
          "referenceAllele": "GC",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.1993_1994delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:p.Ala665Ser",
        "hgvsWellDefined": "ENSP00000415346.2:p.Ala665Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 2210,
          "referenceAllele": "GC",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.2092_2093delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:p.Ala698Ser",
        "hgvsWellDefined": "ENSP00000304408.4:p.Ala698Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.2092_2093delinsAG"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.2092_2093delinsAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Ala698Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Ala698Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 2263,
          "referenceAllele": "GC",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.2092_2093delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Ala698Ser",
        "hgvsWellDefined": "ENSP00000304408.3:p.Ala698Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 2197,
          "referenceAllele": "GC",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.2092_2093delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:p.Ala698Ser",
        "hgvsWellDefined": "ENSP00000315243.6:p.Ala698Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 2210,
          "referenceAllele": "GC",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.2092_2093delinsAG",
        "LRG_3t1:c.2092_2093delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Ala698Ser",
        "hgvsWellDefined": "NP_000081.1:p.Ala698Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057720500",
      "coordinates": [
        {
          "allele": "AG",
          "end": 2210,
          "referenceAllele": "GC",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.2092_2093delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Ala698Ser",
        "hgvsWellDefined": "NP_000081.2:p.Ala698Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.2092_2093delinsAG"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.2092_2093delinsAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Ala698Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Ala698Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}