{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3275524260",
  "communityStandardTitle": [
    "NM_001360016.2(G6PD):c.679_680delinsTT (p.Arg227Leu)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "AA",
          "end": 154534126,
          "referenceAllele": "CG",
          "start": 154534124
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154534125_154534126delinsAA",
        "CM000685.2:g.154534125_154534126delinsAA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "AA",
          "end": 153762341,
          "referenceAllele": "CG",
          "start": 153762339
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153762340_153762341delinsAA",
        "CM000685.1:g.153762340_153762341delinsAA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "AA",
          "end": 153415535,
          "referenceAllele": "CG",
          "start": 153415533
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153415534_153415535delinsAA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 18448,
          "referenceAllele": "CG",
          "start": 18446
        }
      ],
      "hgvs": [
        "NG_009015.2:g.18447_18448delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001380"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 793,
          "referenceAllele": "CG",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393564.7:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377194.2:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000377194.2:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904600"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 858,
          "referenceAllele": "CG",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000439227.6:c.682_683delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395599.2:p.Arg228Leu",
        "hgvsWellDefined": "ENSP00000395599.2:p.Arg228Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904902"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 746,
          "referenceAllele": "CG",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696420.1:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512615.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000512615.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907877"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 746,
          "referenceAllele": "CG",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696421.1:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512616.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000512616.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907878"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 543,
          "referenceAllele": "CG",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696422.1:c.542_543delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907879"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 546,
          "referenceAllele": "CG",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696423.1:c.545_546delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907880"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 560,
          "referenceAllele": "CG",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696424.1:c.559_560delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512619.1:p.Arg187Leu",
        "hgvsWellDefined": "ENSP00000512619.1:p.Arg187Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907881"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 744,
          "referenceAllele": "CG",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696425.1:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512620.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000512620.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907882"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 798,
          "referenceAllele": "CG",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696426.1:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512621.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000512621.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907883"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 726,
          "referenceAllele": "CG",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696427.1:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512622.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000512622.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907884"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 865,
          "referenceAllele": "CG",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696428.1:c.*521_*522delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512623.1:n.*521_*522delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907885"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 889,
          "referenceAllele": "CG",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696429.1:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512624.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000512624.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907886"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 947,
          "referenceAllele": "CG",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000696430.1:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512625.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000512625.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907887"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 746,
          "referenceAllele": "CG",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393562.10:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377192.3:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000377192.3:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.679_680delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.679_680delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Arg227Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Arg227Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 793,
          "referenceAllele": "CG",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000369620.6:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358633.2:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000358633.2:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267612"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1154,
          "referenceAllele": "CG",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393562.6:c.769_770delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377192.2:p.Arg257Leu",
        "hgvsWellDefined": "ENSP00000377192.2:p.Arg257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275692"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 793,
          "referenceAllele": "CG",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000393564.6:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377194.2:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000377194.2:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275693"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 728,
          "referenceAllele": "CG",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000433845.1:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394690.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000394690.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292741"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 741,
          "referenceAllele": "CG",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000439227.5:c.682_683delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395599.1:p.Arg228Leu",
        "hgvsWellDefined": "ENSP00000395599.1:p.Arg228Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295324"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 777,
          "referenceAllele": "CG",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000440967.5:c.682_683delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400648.1:p.Arg228Leu",
        "hgvsWellDefined": "ENSP00000400648.1:p.Arg228Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296156"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 69,
          "referenceAllele": "CG",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000489497.1:n.68_69delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327545"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1154,
          "referenceAllele": "CG",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "ENST00000621232.4:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483686.1:p.Arg227Leu",
        "hgvsWellDefined": "ENSP00000483686.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120991",
      "coordinates": [
        {
          "allele": "TT",
          "end": 918,
          "referenceAllele": "CG",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_000402.4:c.769_770delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000393.4:p.Arg257Leu",
        "hgvsWellDefined": "NP_000393.4:p.Arg257Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094808",
      "coordinates": [
        {
          "allele": "TT",
          "end": 807,
          "referenceAllele": "CG",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.2:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Arg227Leu",
        "hgvsWellDefined": "NP_001035810.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009645"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 916,
          "referenceAllele": "CG",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_005274657.2:c.772_773delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274714.1:p.Arg258Leu",
        "hgvsWellDefined": "XP_005274714.1:p.Arg258Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068029"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 805,
          "referenceAllele": "CG",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_005274658.2:c.682_683delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274715.1:p.Arg228Leu",
        "hgvsWellDefined": "XP_005274715.1:p.Arg228Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068030"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 916,
          "referenceAllele": "CG",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_011531132.1:c.772_773delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529434.1:p.Arg258Leu",
        "hgvsWellDefined": "XP_011529434.1:p.Arg258Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828057987",
      "coordinates": [
        {
          "allele": "TT",
          "end": 746,
          "referenceAllele": "CG",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001360016.2:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001346945.1:p.Arg227Leu",
        "hgvsWellDefined": "NP_001346945.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393562.10:c.679_680delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_001360016.2:c.679_680delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377192.3:p.Arg227Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001346945.1:p.Arg227Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA094808",
      "coordinates": [
        {
          "allele": "TT",
          "end": 790,
          "referenceAllele": "CG",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001042351.3:c.679_680delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035810.1:p.Arg227Leu",
        "hgvsWellDefined": "NP_001035810.1:p.Arg227Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676000"
    }
  ],
  "type": "nucleotide"
}