{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3250141982",
  "communityStandardTitle": [
    "NM_000424.4(KRT5):c.591_594delinsAACA (p.Asp197Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4638802[alleleid]",
        "alleleId": 4638802,
        "preferredName": "NM_000424.4(KRT5):c.591_594delinsAACA (p.Asp197Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4526404",
        "RCV": [
          "RCV006249176"
        ],
        "variationId": 4526404
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TGTT",
          "end": 52519125,
          "referenceAllele": "GGTG",
          "start": 52519121
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52519122_52519125delinsTGTT",
        "CM000674.2:g.52519122_52519125delinsTGTT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TGTT",
          "end": 52912909,
          "referenceAllele": "GGTG",
          "start": 52912905
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52912906_52912909delinsTGTT",
        "CM000674.1:g.52912906_52912909delinsTGTT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TGTT",
          "end": 51199176,
          "referenceAllele": "GGTG",
          "start": 51199172
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51199173_51199176delinsTGTT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 6338,
          "referenceAllele": "CACC",
          "start": 6334
        }
      ],
      "hgvs": [
        "NG_008297.1:g.6335_6338delinsAACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 692,
          "referenceAllele": "CACC",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.9:c.591_594delinsAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Asp197Glu",
        "hgvsWellDefined": "ENSP00000252242.4:p.Asp197Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741522",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.591_594delinsAACA"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.591_594delinsAACA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Asp197Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Asp197Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 985,
          "referenceAllele": "CACC",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000252242.8:c.591_594delinsAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252242.4:p.Asp197Glu",
        "hgvsWellDefined": "ENSP00000252242.4:p.Asp197Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249799"
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 339,
          "referenceAllele": "CACC",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000549420.1:c.261_264delinsAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447209.1:p.Asp87Glu",
        "hgvsWellDefined": "ENSP00000447209.1:p.Asp87Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367454"
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 122,
          "referenceAllele": "CACC",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000551013.1:n.119_122delinsAACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368407"
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 692,
          "referenceAllele": "CACC",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "ENST00000552629.5:n.689_692delinsAACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA216777",
      "coordinates": [
        {
          "allele": "AACA",
          "end": 757,
          "referenceAllele": "CACC",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.3:c.591_594delinsAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Asp197Glu",
        "hgvsWellDefined": "NP_000415.2:p.Asp197Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA216777",
      "coordinates": [
        {
          "allele": "AACA",
          "end": 692,
          "referenceAllele": "CACC",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NM_000424.4:c.591_594delinsAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000415.2:p.Asp197Glu",
        "hgvsWellDefined": "NP_000415.2:p.Asp197Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252242.9:c.591_594delinsAACA"
          },
          "RefSeq": {
            "hgvs": "NM_000424.4:c.591_594delinsAACA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252242.4:p.Asp197Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000415.2:p.Asp197Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}