{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344124",
  "communityStandardTitle": [
    "NM_003977.4(AIP):c.500del (p.Pro167HisfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49608[alleleid]",
        "alleleId": 49608,
        "preferredName": "NM_003977.4(AIP):c.500del (p.Pro167fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41186",
        "RCV": [
          "RCV000034085"
        ],
        "variationId": 41186
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67257540del?assembly=hg19",
        "id": "chr11:g.67257540del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67490069del?assembly=hg38",
        "id": "chr11:g.67490069del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606557",
        "rs": 267606557
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 67490069,
          "referenceAllele": "C",
          "start": 67490068
        }
      ],
      "hgvs": [
        "NC_000011.10:g.67490069del",
        "CM000673.2:g.67490069del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 67257540,
          "referenceAllele": "C",
          "start": 67257539
        }
      ],
      "hgvs": [
        "NC_000011.9:g.67257540del",
        "CM000673.1:g.67257540del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 67014116,
          "referenceAllele": "C",
          "start": 67014115
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67014116del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12036,
          "referenceAllele": "C",
          "start": 12035
        }
      ],
      "hgvs": [
        "NG_008969.1:g.12036del",
        "LRG_460:g.12036del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001340"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000525341.2:c.477del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825703"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000528641.7:c.311del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434982.3:p.Pro104HisfsTer4",
        "hgvsWellDefined": "ENSP00000434982.3:p.[Pro104_Ile119del;Gln121_Glu122del;Asn124_Lys133delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000529797.2:n.1012del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 559,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "C",
          "start": 559,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682324.1:c.468+614del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508017.1:n.468+614del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 135,
          "referenceAllele": "C",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682659.1:c.131del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507351.1:p.Pro44HisfsTer4",
        "hgvsWellDefined": "ENSP00000507351.1:p.[Pro44_Ile59del;Gln61_Glu62del;Asn64_Lys73delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827648"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682699.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507935.1:p.Pro167HisfsTer4",
        "hgvsWellDefined": "ENSP00000507935.1:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000683237.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507343.1:p.Pro167HisfsTer4",
        "hgvsWellDefined": "ENSP00000507343.1:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828219"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000683856.1:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507979.1:p.Pro108HisfsTer4",
        "hgvsWellDefined": "ENSP00000507979.1:p.[Pro108_Ile123del;Gln125_Glu126del;Asn128_Lys137delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000684006.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507269.1:p.Pro167HisfsTer4",
        "hgvsWellDefined": "ENSP00000507269.1:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828968"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000684657.1:c.320del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507961.1:p.Pro107HisfsTer4",
        "hgvsWellDefined": "ENSP00000507961.1:p.[Pro107_Ile122del;Gln124_Glu125del;Asn127_Lys136delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000279146.8:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279146.3:p.Pro167HisfsTer4",
        "hgvsWellDefined": "ENSP00000279146.3:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.500del"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.500del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Pro167HisfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Pro167HisfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000279146.7:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279146.3:p.Pro167HisfsTer4",
        "hgvsWellDefined": "ENSP00000279146.3:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252866"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000525341.1:c.152del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476993.1:p.Pro51HisfsTer4",
        "hgvsWellDefined": "ENSP00000476993.1:p.[Pro51_Ile66del;Gln68_Glu69del;Asn71_Lys80delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351385"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000528641.6:c.311del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434982.2:p.Pro104HisfsTer4",
        "hgvsWellDefined": "ENSP00000434982.2:p.[Pro104_Ile119del;Gln121_Glu122del;Asn124_Lys133delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354152"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.1:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Pro108HisfsTer4",
        "hgvsWellDefined": "NP_001289888.1:p.[Pro108_Ile123del;Gln125_Glu126del;Asn128_Lys137delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025376"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Pro167HisfsTer4",
        "hgvsWellDefined": "NP_001289889.1:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025377"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.3:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Pro167HisfsTer4",
        "hgvsWellDefined": "NP_003968.3:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "XM_024448761.1:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304529.1:p.Pro167HisfsTer4",
        "hgvsWellDefined": "XP_024304529.1:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582329"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.4:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Pro167HisfsTer4",
        "hgvsWellDefined": "NP_003968.3:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.500del"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.500del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Pro167HisfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Pro167HisfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.2:c.500del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Pro167HisfsTer4",
        "hgvsWellDefined": "NP_001289889.1:p.[Pro167_Ile182del;Gln184_Glu185del;Asn187_Lys196delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683502"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.2:c.323del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Pro108HisfsTer4",
        "hgvsWellDefined": "NP_001289888.1:p.[Pro108_Ile123del;Gln125_Glu126del;Asn128_Lys137delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717004"
    }
  ],
  "type": "nucleotide"
}