{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1363086000",
  "communityStandardTitle": [
    "NM_000094.4(COL7A1):c.4039G= (p.Gly1347=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912833",
        "rs": 121912833
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 48584742,
          "referenceAllele": "C",
          "start": 48584741
        }
      ],
      "hgvs": [
        "NC_000003.12:g.48584742C=",
        "CM000665.2:g.48584742C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 48622175,
          "referenceAllele": "C",
          "start": 48622174
        }
      ],
      "hgvs": [
        "NC_000003.11:g.48622175C=",
        "CM000665.1:g.48622175C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 48597179,
          "referenceAllele": "C",
          "start": 48597178
        }
      ],
      "hgvs": [
        "NC_000003.10:g.48597179C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15511,
          "referenceAllele": "G",
          "start": 15510
        }
      ],
      "hgvs": [
        "NG_007065.1:g.15511G=",
        "LRG_286:g.15511G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000445"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "ENST00000681320.1:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506558.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780930",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681320.1:c.4039G="
          },
          "RefSeq": {
            "hgvs": "NM_000094.4:c.4039G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000506558.1:p.Gly1347="
          },
          "RefSeq": {
            "hgvs": "NP_000085.1:p.Gly1347="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4147,
          "referenceAllele": "G",
          "start": 4146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "ENST00000328333.12:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332371.8:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064406",
      "coordinates": [
        {
          "allele": "G",
          "end": 4040,
          "referenceAllele": "G",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "NM_000094.3:c.4039G=",
        "LRG_286t1:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000085.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533336.1:c.4066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531638.1:p.Gly1356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533337.1:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531639.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533338.1:c.4066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531640.1:p.Gly1356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533339.1:c.4066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531641.1:p.Gly1356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533340.1:c.4066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531642.1:p.Gly1356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533341.1:c.4066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531643.1:p.Gly1356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_011533342.1:c.4066G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531644.1:p.Gly1356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940369.1:n.4102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940370.1:n.4102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940371.1:n.4102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940372.1:n.4102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940373.1:n.4102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940374.1:n.4102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_940375.1:n.4102G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005688.1:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861177.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005689.1:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861178.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005690.1:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861179.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005691.1:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861180.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XM_017005692.1:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861181.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740003.1:n.4075G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740004.1:n.4075G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740005.1:n.4075G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740006.1:n.4075G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740007.1:n.4075G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740008.1:n.4075G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4075,
          "referenceAllele": "G",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740009.1:n.4075G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064406",
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "NM_000094.4:c.4039G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000085.1:p.Gly1347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681320.1:c.4039G="
          },
          "RefSeq": {
            "hgvs": "NM_000094.4:c.4039G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000506558.1:p.Gly1347="
          },
          "RefSeq": {
            "hgvs": "NP_000085.1:p.Gly1347="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}