{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115691",
  "communityStandardTitle": [
    "NM_017436.7(A4GALT):c.241_243del (p.Phe81del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17735[alleleid]",
        "alleleId": 17735,
        "preferredName": "NM_017436.7(A4GALT):c.238TTC[1] (p.Phe81del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2696",
        "RCV": [
          "RCV000002815"
        ],
        "variationId": 2696
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-43089714-GGAA-G",
        "id": "22-43089714-GGAA-G",
        "variant": "22:43089714 GGAA / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43089716_43089718del?assembly=hg19",
        "id": "chr22:g.43089716_43089718del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43089715_43089717del?assembly=hg19",
        "id": "chr22:g.43089715_43089717del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42693710_42693712del?assembly=hg38",
        "id": "chr22:g.42693710_42693712del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42693709_42693711del?assembly=hg38",
        "id": "chr22:g.42693709_42693711del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906279",
        "rs": 387906279
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-43089714-GGAA-G?dataset=gnomad_r2_1",
        "id": "22-43089714-GGAA-G",
        "variant": "22:43089714 GGAA / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42693708-GGAA-G?dataset=gnomad_r3",
        "id": "22-42693708-GGAA-G",
        "variant": "22:42693708 GGAA / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42693708-GGAA-G?dataset=gnomad_r4",
        "id": "22-42693708-GGAA-G",
        "variant": "22:42693708 GGAA / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 42693716,
          "referenceAllele": "AGA",
          "start": 42693713
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42693714_42693716del",
        "CM000684.2:g.42693714_42693716del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 43089722,
          "referenceAllele": "AGA",
          "start": 43089719
        }
      ],
      "hgvs": [
        "NC_000022.10:g.43089720_43089722del",
        "CM000684.1:g.43089720_43089722del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 41419666,
          "referenceAllele": "AGA",
          "start": 41419663
        }
      ],
      "hgvs": [
        "NC_000022.9:g.41419664_41419666del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 32162,
          "referenceAllele": "CTT",
          "start": 32159
        }
      ],
      "hgvs": [
        "NG_007495.1:g.32160_32162del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 32593,
          "referenceAllele": "CTT",
          "start": 32590
        }
      ],
      "hgvs": [
        "NG_007495.2:g.32591_32593del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616079"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 27088,
          "referenceAllele": "CTT",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 27085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686129.1:c.-49+27086_-49+27088del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508623.1:n.-49+27086_-49+27088del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "CTT",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "ENST00000249005.3:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249005.2:p.Phe81del",
        "hgvsWellDefined": "ENSP00000249005.2:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741386"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 369,
          "referenceAllele": "CTT",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "ENST00000381278.4:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370678.3:p.Phe81del",
        "hgvsWellDefined": "ENSP00000370678.3:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 504,
          "referenceAllele": "CTT",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "ENST00000642412.2:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494127.1:p.Phe81del",
        "hgvsWellDefined": "ENSP00000494127.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642412.2:c.241_243del"
          },
          "RefSeq": {
            "hgvs": "NM_017436.7:c.241_243del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494127.1:p.Phe81del"
          },
          "RefSeq": {
            "hgvs": "NP_059132.1:p.Phe81del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "CTT",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "ENST00000249005.2:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249005.2:p.Phe81del",
        "hgvsWellDefined": "ENSP00000249005.2:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249591"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 348,
          "referenceAllele": "CTT",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "ENST00000381278.3:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370678.3:p.Phe81del",
        "hgvsWellDefined": "ENSP00000370678.3:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273293"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 733,
          "referenceAllele": "CTT",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "ENST00000401850.5:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384794.1:p.Phe81del",
        "hgvsWellDefined": "ENSP00000384794.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115692",
      "coordinates": [
        {
          "allele": "",
          "end": 504,
          "referenceAllele": "CTT",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "NM_017436.4:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "NP_059132.1:p.Phe81del",
        "hgvsWellDefined": "NP_059132.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034934"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 567,
          "referenceAllele": "CTT",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261643.1:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261700.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261700.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063178"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 849,
          "referenceAllele": "CTT",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261644.1:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261701.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261701.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "CTT",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261646.3:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261703.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261703.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063180"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 379,
          "referenceAllele": "CTT",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261647.1:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261704.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261704.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063181"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 462,
          "referenceAllele": "CTT",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261648.2:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261705.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261705.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 556,
          "referenceAllele": "CTT",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_006724265.2:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724328.1:p.Phe81del",
        "hgvsWellDefined": "XP_006724328.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 510,
          "referenceAllele": "CTT",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_006724266.2:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724329.1:p.Phe81del",
        "hgvsWellDefined": "XP_006724329.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075447"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 731,
          "referenceAllele": "CTT",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_011530233.1:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528535.1:p.Phe81del",
        "hgvsWellDefined": "XP_011528535.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097291"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 363,
          "referenceAllele": "CTT",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_011530234.1:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528536.1:p.Phe81del",
        "hgvsWellDefined": "XP_011528536.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097292"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976835",
      "coordinates": [
        {
          "allele": "",
          "end": 567,
          "referenceAllele": "CTT",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "NM_001318038.2:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304967.1:p.Phe81del",
        "hgvsWellDefined": "NP_001304967.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115692",
      "coordinates": [
        {
          "allele": "",
          "end": 544,
          "referenceAllele": "CTT",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "NM_017436.6:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "NP_059132.1:p.Phe81del",
        "hgvsWellDefined": "NP_059132.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525791"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 849,
          "referenceAllele": "CTT",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261644.2:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261701.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261701.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535343"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 405,
          "referenceAllele": "CTT",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261646.4:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261703.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261703.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535344"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 420,
          "referenceAllele": "CTT",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261647.3:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261704.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261704.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 445,
          "referenceAllele": "CTT",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_005261648.4:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261705.1:p.Phe81del",
        "hgvsWellDefined": "XP_005261705.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535346"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 790,
          "referenceAllele": "CTT",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_006724265.3:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724328.1:p.Phe81del",
        "hgvsWellDefined": "XP_006724328.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540936"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 524,
          "referenceAllele": "CTT",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_006724266.3:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724329.1:p.Phe81del",
        "hgvsWellDefined": "XP_006724329.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540937"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 731,
          "referenceAllele": "CTT",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_011530233.2:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528535.1:p.Phe81del",
        "hgvsWellDefined": "XP_011528535.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549877"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 661,
          "referenceAllele": "CTT",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "XM_017028831.1:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884320.1:p.Phe81del",
        "hgvsWellDefined": "XP_016884320.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115692",
      "coordinates": [
        {
          "allele": "",
          "end": 504,
          "referenceAllele": "CTT",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "NM_017436.7:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "NP_059132.1:p.Phe81del",
        "hgvsWellDefined": "NP_059132.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642412.2:c.241_243del"
          },
          "RefSeq": {
            "hgvs": "NM_017436.7:c.241_243del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494127.1:p.Phe81del"
          },
          "RefSeq": {
            "hgvs": "NP_059132.1:p.Phe81del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976835",
      "coordinates": [
        {
          "allele": "",
          "end": 567,
          "referenceAllele": "CTT",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018149",
      "geneNCBI_id": 53947,
      "geneSymbol": "A4GALT",
      "hgvs": [
        "NM_001318038.3:c.241_243del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304967.1:p.Phe81del",
        "hgvsWellDefined": "NP_001304967.1:p.Phe81del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717494"
    }
  ],
  "type": "nucleotide"
}