{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253575",
  "communityStandardTitle": [
    "NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20750[alleleid]",
        "alleleId": 20750,
        "preferredName": "NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5711",
        "RCV": [
          "RCV000006065"
        ],
        "variationId": 5711
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18705167T>A?assembly=hg19",
        "id": "chr19:g.18705167T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18594357T>A?assembly=hg38",
        "id": "chr19:g.18594357T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853144",
        "rs": 137853144
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 18594357,
          "referenceAllele": "T",
          "start": 18594356
        }
      ],
      "hgvs": [
        "NC_000019.10:g.18594357T>A",
        "CM000681.2:g.18594357T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 18705167,
          "referenceAllele": "T",
          "start": 18705166
        }
      ],
      "hgvs": [
        "NC_000019.9:g.18705167T>A",
        "CM000681.1:g.18705167T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 18566167,
          "referenceAllele": "T",
          "start": 18566166
        }
      ],
      "hgvs": [
        "NC_000019.8:g.18566167T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17494,
          "referenceAllele": "A",
          "start": 17493
        }
      ],
      "hgvs": [
        "NG_013370.1:g.17494A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002819"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "A",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "ENST00000684169.1:c.1102A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506849.1:p.Lys368Ter",
        "hgvsWellDefined": "ENSP00000506849.1:p.Lys368_Leu426delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnHisArgThrArgGlySerCysProArgAlaAspGlyAlaArgArgGluValLeuProAspLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "A",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "ENST00000392386.8:c.1102A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376188.2:p.Lys368Ter",
        "hgvsWellDefined": "ENSP00000376188.2:p.Lys368_Arg422delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnAspGluGlyIleLeuProSerGlyArgArgGlyThrAlaArgGlyProAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392386.8:c.1102A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004750.5:c.1102A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376188.2:p.Lys368Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004741.1:p.Lys368Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "A",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "ENST00000392386.7:c.1102A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376188.2:p.Lys368Ter",
        "hgvsWellDefined": "ENSP00000376188.2:p.Lys368_Arg422delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnAspGluGlyIleLeuProSerGlyArgArgGlyThrAlaArgGlyProAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "referenceAllele": "A",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "ENST00000594325.1:n.79A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253576",
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "A",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "NM_004750.4:c.1102A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004741.1:p.Lys368Ter",
        "hgvsWellDefined": "NP_004741.1:p.Lys368_Arg422delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnAspGluGlyIleLeuProSerGlyArgArgGlyThrAlaArgGlyProAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528422.1:c.1036A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526724.1:p.Lys346Ter",
        "hgvsWellDefined": "XP_011526724.1:p.Lys346_Ser423delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnHisArgThrArgGlySerCysProArgAlaAspGlyAlaArgArgGluProLysAsnIleGlnCysProGluAsnValArgSerGlyIleSerSerGluMetAsnGluHisThrHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "A",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528423.1:c.1102A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526725.1:p.Lys368Ter",
        "hgvsWellDefined": "XP_011526725.1:p.Lys368_Ala419delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnAspGluGlyIleLeuProSerGlyArgArgGlyThrAlaArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1070,
          "referenceAllele": "A",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528424.1:c.1036A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526726.1:p.Lys346Ter",
        "hgvsWellDefined": "XP_011526726.1:p.Lys346_Leu404delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnHisArgThrArgGlySerCysProArgAlaAspGlyAlaArgArgGluValLeuProAspLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "A",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528422.2:c.1036A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526724.1:p.Lys346Ter",
        "hgvsWellDefined": "XP_011526724.1:p.Lys346_Ser423delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnHisArgThrArgGlySerCysProArgAlaAspGlyAlaArgArgGluProLysAsnIleGlnCysProGluAsnValArgSerGlyIleSerSerGluMetAsnGluHisThrHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "A",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528423.2:c.1102A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526725.1:p.Lys368Ter",
        "hgvsWellDefined": "XP_011526725.1:p.Lys368_Ala419delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnAspGluGlyIleLeuProSerGlyArgArgGlyThrAlaArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "A",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "XM_011528424.3:c.1036A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526726.1:p.Lys346Ter",
        "hgvsWellDefined": "XP_011526726.1:p.Lys346_Leu404delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnHisArgThrArgGlySerCysProArgAlaAspGlyAlaArgArgGluValLeuProAspLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253576",
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "A",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002364",
      "geneNCBI_id": 9244,
      "geneSymbol": "CRLF1",
      "hgvs": [
        "NM_004750.5:c.1102A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004741.1:p.Lys368Ter",
        "hgvsWellDefined": "NP_004741.1:p.Lys368_Arg422delinsGlnPheLeuGlyTrpLeuLysLysHisAlaTyrCysSerAsnLeuSerPheArgLeuTyrAspGlnTrpArgAlaTrpMetGlnLysSerHisLysThrArgAsnGlnAspGluGlyIleLeuProSerGlyArgArgGlyThrAlaArgGlyProAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392386.8:c.1102A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004750.5:c.1102A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376188.2:p.Lys368Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004741.1:p.Lys368Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}