{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126052",
  "communityStandardTitle": [
    "NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537IlefsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30958[alleleid]",
        "alleleId": 30958,
        "preferredName": "NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15919",
        "RCV": [
          "RCV000057075",
          "RCV002051632"
        ],
        "variationId": 15919
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.53069302_53069303delinsT?assembly=hg19",
        "id": "chr12:g.53069302_53069303delinsT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52675518_52675519delinsT?assembly=hg38",
        "id": "chr12:g.52675518_52675519delinsT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/59169454",
        "rs": 59169454
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 52675519,
          "referenceAllele": "CC",
          "start": 52675517
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52675518_52675519delinsT",
        "CM000674.2:g.52675518_52675519delinsT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 53069303,
          "referenceAllele": "CC",
          "start": 53069301
        }
      ],
      "hgvs": [
        "NC_000012.11:g.53069302_53069303delinsT",
        "CM000674.1:g.53069302_53069303delinsT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 51355570,
          "referenceAllele": "CC",
          "start": 51355568
        }
      ],
      "hgvs": [
        "NC_000012.10:g.51355569_51355570delinsT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9890,
          "referenceAllele": "GG",
          "start": 9888
        }
      ],
      "hgvs": [
        "NG_008364.1:g.9889_9890delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9890,
          "referenceAllele": "GG",
          "start": 9888
        }
      ],
      "hgvs": [
        "NG_008364.2:g.9889_9890delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "GG",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
        "ENST00000252244.3:c.1609_1610delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252244.3:p.Gly537IlefsTer?",
        "hgvsWellDefined": "ENSP00000252244.3:p.Gly537_Tyr566delinsIleAlaMetValLeuGluValAlaAlaAlaAlaAlaValAlaAlaMetAlaProGluValAlaAlaThrAlaProGluValAlaAlaMet"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252244.3:c.1609_1610delinsA"
          },
          "RefSeq": {
            "hgvs": "NM_006121.4:c.1609_1610delinsA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252244.3:p.Gly537IlefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_006112.3:p.Gly537IlefsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "GG",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
        "NM_006121.3:c.1609_1610delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_006112.3:p.Gly537IlefsTer?",
        "hgvsWellDefined": "NP_006112.3:p.Gly537_Tyr566delinsIleAlaMetValLeuGluValAlaAlaAlaAlaAlaValAlaAlaMetAlaProGluValAlaAlaThrAlaProGluValAlaAlaMet"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "GG",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
        "NM_006121.4:c.1609_1610delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_006112.3:p.Gly537IlefsTer?",
        "hgvsWellDefined": "NP_006112.3:p.Gly537_Tyr566delinsIleAlaMetValLeuGluValAlaAlaAlaAlaAlaValAlaAlaMetAlaProGluValAlaAlaThrAlaProGluValAlaAlaMet"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252244.3:c.1609_1610delinsA"
          },
          "RefSeq": {
            "hgvs": "NM_006121.4:c.1609_1610delinsA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252244.3:p.Gly537IlefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_006112.3:p.Gly537IlefsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}