{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340449",
  "communityStandardTitle": [
    "NM_004750.5(CRLF1):c.845_846del (p.Val282GlyfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226392[alleleid]",
        "alleleId": 226392,
        "preferredName": "NM_004750.5(CRLF1):c.845_846del (p.Val282fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224612",
        "RCV": [
          "RCV000210224"
        ],
        "variationId": 224612
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18707711_18707712del?assembly=hg19",
        "id": "chr19:g.18707711_18707712del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18596901_18596902del?assembly=hg38",
        "id": "chr19:g.18596901_18596902del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853928",
        "rs": 137853928
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-18596900-CCA-C?dataset=gnomad_r3",
        "id": "19-18596900-CCA-C",
        "variant": "19:18596900 CCA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-18596900-CCA-C?dataset=gnomad_r4",
        "id": "19-18596900-CCA-C",
        "variant": "19:18596900 CCA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 18596905,
          "referenceAllele": "AC",
          "start": 18596903
        }
      ],
      "hgvs": [
        "NC_000019.10:g.18596904_18596905del",
        "CM000681.2:g.18596904_18596905del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 18707715,
          "referenceAllele": "AC",
          "start": 18707713
        }
      ],
      "hgvs": [
        "NC_000019.9:g.18707714_18707715del",
        "CM000681.1:g.18707714_18707715del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 18568715,
          "referenceAllele": "AC",
          "start": 18568713
        }
      ],
      "hgvs": [
        "NC_000019.8:g.18568714_18568715del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14950,
          "referenceAllele": "GT",
          "start": 14948
        }
      ],
      "hgvs": [
        "NG_013370.1:g.14949_14950del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002819"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 989,
          "referenceAllele": "GT",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "ENST00000684169.1:c.845_846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506849.1:p.Val282GlyfsTer?",
        "hgvsWellDefined": "ENSP00000506849.1:p.[Val282_Asn292delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr294_Ala299delinsProAspLeuLeuProPro;Leu301_Lys302delinsArg;Gly304Glu;Val306_Phe308delinsArgHisArg;Gln310_Arg312delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 989,
          "referenceAllele": "GT",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "ENST00000392386.8:c.845_846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376188.2:p.Val282GlyfsTer?",
        "hgvsWellDefined": "ENSP00000376188.2:p.[Val282_Asn292delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr294_Ala299delinsProAspLeuLeuProPro;Leu301_Lys302delinsArg;Gly304Glu;Val306_Phe308delinsArgHisArg;Gln310_Arg312delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392386.8:c.845_846del"
          },
          "RefSeq": {
            "hgvs": "NM_004750.5:c.845_846del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376188.2:p.Val282GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004741.1:p.Val282GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1040,
          "referenceAllele": "GT",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "ENST00000392386.7:c.845_846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376188.2:p.Val282GlyfsTer?",
        "hgvsWellDefined": "ENSP00000376188.2:p.[Val282_Asn292delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr294_Ala299delinsProAspLeuLeuProPro;Leu301_Lys302delinsArg;Gly304Glu;Val306_Phe308delinsArgHisArg;Gln310_Arg312delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 311,
          "referenceAllele": "GT",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "ENST00000597131.1:c.310_311del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395833"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1040,
          "referenceAllele": "GT",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "NM_004750.4:c.845_846del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004741.1:p.Val282GlyfsTer?",
        "hgvsWellDefined": "NP_004741.1:p.[Val282_Asn292delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr294_Ala299delinsProAspLeuLeuProPro;Leu301_Lys302delinsArg;Gly304Glu;Val306_Phe308delinsArgHisArg;Gln310_Arg312delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 817,
          "referenceAllele": "GT",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528422.1:c.779_780del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526724.1:p.Val260GlyfsTer?",
        "hgvsWellDefined": "XP_011526724.1:p.[Val260_Asn270delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr272_Ala277delinsProAspLeuLeuProPro;Leu279_Lys280delinsArg;Gly282Glu;Val284_Phe286delinsArgHisArg;Gln288_Arg290delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095493"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 846,
          "referenceAllele": "GT",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528423.1:c.845_846del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526725.1:p.Val282GlyfsTer?",
        "hgvsWellDefined": "XP_011526725.1:p.[Val282_Asn292delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr294_Ala299delinsProAspLeuLeuProPro;Leu301_Lys302delinsArg;Gly304Glu;Val306_Phe308delinsArgHisArg;Gln310_Arg312delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 814,
          "referenceAllele": "GT",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528424.1:c.779_780del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526726.1:p.Val260GlyfsTer?",
        "hgvsWellDefined": "XP_011526726.1:p.[Val260_Asn270delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr272_Ala277delinsProAspLeuLeuProPro;Leu279_Lys280delinsArg;Gly282Glu;Val284_Phe286delinsArgHisArg;Gln288_Arg290delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095495"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1122,
          "referenceAllele": "GT",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528422.2:c.779_780del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526724.1:p.Val260GlyfsTer?",
        "hgvsWellDefined": "XP_011526724.1:p.[Val260_Asn270delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr272_Ala277delinsProAspLeuLeuProPro;Leu279_Lys280delinsArg;Gly282Glu;Val284_Phe286delinsArgHisArg;Gln288_Arg290delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549110"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 846,
          "referenceAllele": "GT",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528423.2:c.845_846del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526725.1:p.Val282GlyfsTer?",
        "hgvsWellDefined": "XP_011526725.1:p.[Val282_Asn292delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr294_Ala299delinsProAspLeuLeuProPro;Leu301_Lys302delinsArg;Gly304Glu;Val306_Phe308delinsArgHisArg;Gln310_Arg312delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549111"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1115,
          "referenceAllele": "GT",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528424.3:c.779_780del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526726.1:p.Val260GlyfsTer?",
        "hgvsWellDefined": "XP_011526726.1:p.[Val260_Asn270delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr272_Ala277delinsProAspLeuLeuProPro;Leu279_Lys280delinsArg;Gly282Glu;Val284_Phe286delinsArgHisArg;Gln288_Arg290delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549112"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 989,
          "referenceAllele": "GT",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "NM_004750.5:c.845_846del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004741.1:p.Val282GlyfsTer?",
        "hgvsWellDefined": "NP_004741.1:p.[Val282_Asn292delinsGlyLeuGluGlyGlyGlyArgCysGlu;Thr294_Ala299delinsProAspLeuLeuProPro;Leu301_Lys302delinsArg;Gly304Glu;Val306_Phe308delinsArgHisArg;Gln310_Arg312delinsLeuArgAlaSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392386.8:c.845_846del"
          },
          "RefSeq": {
            "hgvs": "NM_004750.5:c.845_846del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376188.2:p.Val282GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004741.1:p.Val282GlyfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}