{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2118736116",
  "communityStandardTitle": [
    "NM_001845.6(COL4A1):c.3555A= (p.Lys1185=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518654",
        "rs": 1057518654
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 110172721,
          "referenceAllele": "T",
          "start": 110172720
        }
      ],
      "hgvs": [
        "NC_000013.11:g.110172721T=",
        "CM000675.2:g.110172721T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 110825068,
          "referenceAllele": "T",
          "start": 110825067
        }
      ],
      "hgvs": [
        "NC_000013.10:g.110825068T=",
        "CM000675.1:g.110825068T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 109623069,
          "referenceAllele": "T",
          "start": 109623068
        }
      ],
      "hgvs": [
        "NC_000013.9:g.109623069T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 139429,
          "referenceAllele": "A",
          "start": 139428
        }
      ],
      "hgvs": [
        "NG_011544.2:g.139429A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001806"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3685,
          "referenceAllele": "A",
          "start": 3684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.10:c.3555A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Lys1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.3555A="
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.3555A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Lys1185="
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Lys1185="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3677,
          "referenceAllele": "A",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.8:c.3555A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Lys1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829323044",
      "coordinates": [
        {
          "allele": "A",
          "end": 3685,
          "referenceAllele": "A",
          "start": 3684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.5:c.3555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Lys1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11617,
          "referenceAllele": "A",
          "start": 11616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.1:c.3363A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Lys1121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11617,
          "referenceAllele": "A",
          "start": 11616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.2:c.3363A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Lys1121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829323044",
      "coordinates": [
        {
          "allele": "A",
          "end": 3685,
          "referenceAllele": "A",
          "start": 3684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.6:c.3555A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Lys1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.3555A="
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.3555A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Lys1185="
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Lys1185="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}