{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA725305649",
  "communityStandardTitle": [
    "NM_001451.3(FOXF1):c.63_65dup (p.Gly23dup)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.86544235_86544236insGGA?assembly=hg19",
        "id": "chr16:g.86544235_86544236insGGA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.86510629_86510630insGGA?assembly=hg38",
        "id": "chr16:g.86510629_86510630insGGA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1351554601",
        "rs": 1351554601
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-86510629-G-GGGA?dataset=gnomad_r3",
        "id": "16-86510629-G-GGGA",
        "variant": "16:86510629 G / GGGA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-86510629-G-GGGA?dataset=gnomad_r4",
        "id": "16-86510629-G-GGGA",
        "variant": "16:86510629 G / GGGA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AGG",
          "end": 86510634,
          "referenceAllele": "",
          "start": 86510634
        }
      ],
      "hgvs": [
        "NC_000016.10:g.86510632_86510634dup",
        "CM000678.2:g.86510632_86510634dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AGG",
          "end": 86544240,
          "referenceAllele": "",
          "start": 86544240
        }
      ],
      "hgvs": [
        "NC_000016.9:g.86544238_86544240dup",
        "CM000678.1:g.86544238_86544240dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AGG",
          "end": 85101741,
          "referenceAllele": "",
          "start": 85101741
        }
      ],
      "hgvs": [
        "NC_000016.8:g.85101739_85101741dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "AGG",
          "end": 5108,
          "referenceAllele": "",
          "start": 5108
        }
      ],
      "hgvs": [
        "NG_016273.1:g.5106_5108dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003064"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGG",
          "end": 108,
          "referenceAllele": "",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003809",
      "geneNCBI_id": 2294,
      "geneSymbol": "FOXF1",
      "hgvs": [
        "ENST00000262426.6:c.63_65dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262426.4:p.Gly22_Gly23insGly",
        "hgvsWellDefined": "ENSP00000262426.4:p.Gly23dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262426.6:c.63_65dup"
          },
          "RefSeq": {
            "hgvs": "NM_001451.3:c.63_65dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262426.4:p.Gly22_Gly23insGly"
          },
          "RefSeq": {
            "hgvs": "NP_001442.2:p.Gly22_Gly23insGly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGG",
          "end": 108,
          "referenceAllele": "",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003809",
      "geneNCBI_id": 2294,
      "geneSymbol": "FOXF1",
      "hgvs": [
        "ENST00000262426.5:c.63_65dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262426.4:p.Gly22_Gly23insGly",
        "hgvsWellDefined": "ENSP00000262426.4:p.Gly23dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645421715",
      "coordinates": [
        {
          "allele": "AGG",
          "end": 108,
          "referenceAllele": "",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003809",
      "geneNCBI_id": 2294,
      "geneSymbol": "FOXF1",
      "hgvs": [
        "NM_001451.2:c.63_65dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001442.2:p.Gly22_Gly23insGly",
        "hgvsWellDefined": "NP_001442.2:p.Gly23dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645421715",
      "coordinates": [
        {
          "allele": "AGG",
          "end": 108,
          "referenceAllele": "",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003809",
      "geneNCBI_id": 2294,
      "geneSymbol": "FOXF1",
      "hgvs": [
        "NM_001451.3:c.63_65dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001442.2:p.Gly22_Gly23insGly",
        "hgvsWellDefined": "NP_001442.2:p.Gly23dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262426.6:c.63_65dup"
          },
          "RefSeq": {
            "hgvs": "NM_001451.3:c.63_65dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262426.4:p.Gly22_Gly23insGly"
          },
          "RefSeq": {
            "hgvs": "NP_001442.2:p.Gly22_Gly23insGly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}