{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1937471388",
  "communityStandardTitle": [
    "NC_000010.11:g.113679883_113679885del"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10553596",
        "rs": 10553596
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-113679881-CTTT-C?dataset=gnomad_r4",
        "id": "10-113679881-CTTT-C",
        "variant": "10:113679881 CTTT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 113679885,
          "referenceAllele": "TTT",
          "start": 113679882
        }
      ],
      "hgvs": [
        "NC_000010.11:g.113679883_113679885del",
        "CM000672.2:g.113679883_113679885del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 115439644,
          "referenceAllele": "TTT",
          "start": 115439641
        }
      ],
      "hgvs": [
        "NC_000010.10:g.115439642_115439644del",
        "CM000672.1:g.115439642_115439644del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 115429634,
          "referenceAllele": "TTT",
          "start": 115429631
        }
      ],
      "hgvs": [
        "NC_000010.9:g.115429632_115429634del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "TTT",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000345633.8:c.-170_-168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298701.7:n.-170_-168del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262186"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 9,
          "referenceAllele": "TTT",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000369318.7:c.-96_-94del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358324.3:n.-96_-94del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267470"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "TTT",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000369321.6:c.129_131del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358327.3:p.Leu44del",
        "hgvsWellDefined": "ENSP00000358327.3:p.Leu44del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267472"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000369331.8:c.-1+534_-1+536del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358337.3:n.-1+534_-1+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000429617.5:c.-1+534_-1+536del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400094.1:n.-1+534_-1+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "TTT",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000614447.4:c.-96_-94del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478285.1:n.-96_-94del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402198"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "ENST00000621345.4:c.-1+534_-1+536del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480584.1:n.-1+534_-1+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "TTT",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001227.4:c.-96_-94del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001218.1:n.-96_-94del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018043"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001267056.1:c.-1+534_-1+536del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001253985.1:n.-1+534_-1+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076682405",
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "TTT",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001267057.1:c.129_131del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001253986.1:p.Leu44del",
        "hgvsWellDefined": "NP_001253986.1:p.Leu44del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020092"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "TTT",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033338.5:c.-104_-102del"
      ],
      "proteinEffect": {
        "hgvs": "NP_203124.1:n.-104_-102del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039686"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 217,
          "referenceAllele": "TTT",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033339.4:c.-170_-168del"
      ],
      "proteinEffect": {
        "hgvs": "NP_203125.1:n.-170_-168del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039687"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033340.3:c.-1+534_-1+536del"
      ],
      "proteinEffect": {
        "hgvs": "NP_203126.1:n.-1+534_-1+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 185,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 185,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "XM_006718018.1:c.-8+534_-8+536del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718081.1:n.-8+534_-8+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072436"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001320911.1:c.-8+534_-8+536del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307840.1:n.-8+534_-8+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001320911.2:c.-8+534_-8+536del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307840.1:n.-8+534_-8+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685109"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_033340.4:c.-1+534_-1+536del"
      ],
      "proteinEffect": {
        "hgvs": "NP_203126.1:n.-1+534_-1+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699336"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 536,
          "referenceAllele": "TTT",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001508",
      "geneNCBI_id": 840,
      "geneSymbol": "CASP7",
      "hgvs": [
        "NM_001267056.2:c.-1+534_-1+536del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001253985.1:n.-1+534_-1+536del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715064"
    }
  ],
  "type": "nucleotide"
}