{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621040",
  "communityStandardTitle": [
    "NM_001887.4(CRYBB1):c.171del (p.Asn58ThrfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410924[alleleid]",
        "alleleId": 410924,
        "preferredName": "NM_001887.4(CRYBB1):c.171del (p.Asn58fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419532",
        "RCV": [
          "RCV000009225",
          "RCV000486232",
          "RCV001254599"
        ],
        "variationId": 419532
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.27012113del?assembly=hg19",
        "id": "chr22:g.27012113del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.26616149del?assembly=hg38",
        "id": "chr22:g.26616149del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793935",
        "rs": 1064793935
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-26616148-TC-T?dataset=gnomad_r3",
        "id": "22-26616148-TC-T",
        "variant": "22:26616148 TC / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-26616148-TC-T?dataset=gnomad_r4",
        "id": "22-26616148-TC-T",
        "variant": "22:26616148 TC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 26616151,
          "referenceAllele": "C",
          "start": 26616150
        }
      ],
      "hgvs": [
        "NC_000022.11:g.26616151del",
        "CM000684.2:g.26616151del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 27012115,
          "referenceAllele": "C",
          "start": 27012114
        }
      ],
      "hgvs": [
        "NC_000022.10:g.27012115del",
        "CM000684.1:g.27012115del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 25342115,
          "referenceAllele": "C",
          "start": 25342114
        }
      ],
      "hgvs": [
        "NC_000022.9:g.25342115del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6879,
          "referenceAllele": "G",
          "start": 6878
        }
      ],
      "hgvs": [
        "NG_009826.1:g.6879del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001663"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002397",
      "geneNCBI_id": 1414,
      "geneSymbol": "CRYBB1",
      "hgvs": [
        "ENST00000647684.1:c.171del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497249.1:p.Asn58ThrfsTer?",
        "hgvsWellDefined": "ENSP00000497249.1:p.[Asn58_Glu67delinsThrThrGlyTrpTrpSerSer;Phe69_Arg72delinsTrpLysThrSer;Ala74_Glu75insVal;Phe76_Cys80delinsGlnAsnSerArgGly;Asn82_Gly87delinsAlaGlnIleTrpGlnThrVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647684.1:c.171del"
          },
          "RefSeq": {
            "hgvs": "NM_001887.4:c.171del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497249.1:p.Asn58ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001878.1:p.Asn58ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 302,
          "referenceAllele": "G",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002397",
      "geneNCBI_id": 1414,
      "geneSymbol": "CRYBB1",
      "hgvs": [
        "ENST00000215939.2:c.171del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215939.2:p.Asn58ThrfsTer?",
        "hgvsWellDefined": "ENSP00000215939.2:p.[Asn58_Glu67delinsThrThrGlyTrpTrpSerSer;Phe69_Arg72delinsTrpLysThrSer;Ala74_Glu75insVal;Phe76_Cys80delinsGlnAsnSerArgGly;Asn82_Gly87delinsAlaGlnIleTrpGlnThrVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247922"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002397",
      "geneNCBI_id": 1414,
      "geneSymbol": "CRYBB1",
      "hgvs": [
        "NM_001887.3:c.171del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001878.1:p.Asn58ThrfsTer?",
        "hgvsWellDefined": "NP_001878.1:p.[Asn58_Glu67delinsThrThrGlyTrpTrpSerSer;Phe69_Arg72delinsTrpLysThrSer;Ala74_Glu75insVal;Phe76_Cys80delinsGlnAsnSerArgGly;Asn82_Gly87delinsAlaGlnIleTrpGlnThrVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 76,
          "endIntronDirection": "-",
          "endIntronOffset": 6433,
          "referenceAllele": "C",
          "start": 76,
          "startIntronDirection": "-",
          "startIntronOffset": 6434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002396",
      "geneNCBI_id": 1413,
      "geneSymbol": "CRYBA4",
      "hgvs": [
        "XM_006724140.2:c.4-6434del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724203.1:n.4-6434del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075372"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 48,
          "endIntronDirection": "-",
          "endIntronOffset": 5756,
          "referenceAllele": "C",
          "start": 48,
          "startIntronDirection": "-",
          "startIntronOffset": 5757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002396",
      "geneNCBI_id": 1413,
      "geneSymbol": "CRYBA4",
      "hgvs": [
        "XM_011529898.1:c.24-5757del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528200.1:n.24-5757del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096957"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002397",
      "geneNCBI_id": 1414,
      "geneSymbol": "CRYBB1",
      "hgvs": [
        "XM_011529899.1:c.171del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528201.1:p.Asn58ThrfsTer?",
        "hgvsWellDefined": "XP_011528201.1:p.[Asn58_Glu67delinsThrThrGlyTrpTrpSerSer;Phe69_Arg72delinsTrpLysThrSer;Ala74_Glu75insVal;Phe76_Cys80delinsGlnAsnSerArgGly;Asn82_Gly87delinsAlaGlnIleTrpGlnThrVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096958"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002397",
      "geneNCBI_id": 1414,
      "geneSymbol": "CRYBB1",
      "hgvs": [
        "NM_001887.4:c.171del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001878.1:p.Asn58ThrfsTer?",
        "hgvsWellDefined": "NP_001878.1:p.[Asn58_Glu67delinsThrThrGlyTrpTrpSerSer;Phe69_Arg72delinsTrpLysThrSer;Ala74_Glu75insVal;Phe76_Cys80delinsGlnAsnSerArgGly;Asn82_Gly87delinsAlaGlnIleTrpGlnThrVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524925",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647684.1:c.171del"
          },
          "RefSeq": {
            "hgvs": "NM_001887.4:c.171del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497249.1:p.Asn58ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001878.1:p.Asn58ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 81,
          "endIntronDirection": "-",
          "endIntronOffset": 6433,
          "referenceAllele": "C",
          "start": 81,
          "startIntronDirection": "-",
          "startIntronOffset": 6434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002396",
      "geneNCBI_id": 1413,
      "geneSymbol": "CRYBA4",
      "hgvs": [
        "XM_006724140.3:c.4-6434del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724203.1:n.4-6434del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540896"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002397",
      "geneNCBI_id": 1414,
      "geneSymbol": "CRYBB1",
      "hgvs": [
        "XM_011529899.3:c.171del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528201.1:p.Asn58ThrfsTer?",
        "hgvsWellDefined": "XP_011528201.1:p.[Asn58_Glu67delinsThrThrGlyTrpTrpSerSer;Phe69_Arg72delinsTrpLysThrSer;Ala74_Glu75insVal;Phe76_Cys80delinsGlnAsnSerArgGly;Asn82_Gly87delinsAlaGlnIleTrpGlnThrVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549705"
    }
  ],
  "type": "nucleotide"
}