{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2579808228",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.832_834delinsTCG (p.Ile278Ser)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "CGA",
          "end": 43063075,
          "referenceAllele": "AAT",
          "start": 43063072
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43063073_43063075delinsCGA",
        "CM000683.2:g.43063073_43063075delinsCGA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 17858,
          "referenceAllele": "ATT",
          "start": 17855
        }
      ],
      "hgvs": [
        "NG_008938.1:g.17856_17858delinsTCG",
        "LRG_777:g.17856_17858delinsTCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 984,
          "referenceAllele": "ATT",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.4:p.Ile278Ser",
        "hgvsWellDefined": "ENSP00000381231.4:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.832_834delinsTCG"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.832_834delinsTCG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Ile278Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Ile278Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1072,
          "referenceAllele": "ATT",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000352178.9:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344460.5:p.Ile278Ser",
        "hgvsWellDefined": "ENSP00000344460.5:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1056,
          "referenceAllele": "ATT",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352643.3:p.Ile278Ser",
        "hgvsWellDefined": "ENSP00000352643.3:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 942,
          "referenceAllele": "ATT",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:p.Ile278Ser",
        "hgvsWellDefined": "ENSP00000381225.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1094,
          "referenceAllele": "ATT",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.7:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.3:p.Ile278Ser",
        "hgvsWellDefined": "ENSP00000381231.3:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1145,
          "referenceAllele": "ATT",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.1143_1145delinsTCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 176,
          "referenceAllele": "ATT",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000486098.1:n.174_176delinsTCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324985"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 334,
          "referenceAllele": "ATT",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000496485.1:n.332_334delinsTCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096487",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1079,
          "referenceAllele": "ATT",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.2:c.832_834delinsTCG",
        "LRG_777t1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_000062.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132888",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1056,
          "referenceAllele": "ATT",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_001171479.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133566",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1056,
          "referenceAllele": "ATT",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_001171480.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1201,
          "referenceAllele": "ATT",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529773.1:c.883_885delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528075.1:p.Ile295Ser",
        "hgvsWellDefined": "XP_011528075.1:p.Ile295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1201,
          "referenceAllele": "ATT",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.883_885delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Ile295Ser",
        "hgvsWellDefined": "XP_011528076.1:p.Ile295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1199,
          "referenceAllele": "ATT",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.883_885delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:p.Ile295Ser",
        "hgvsWellDefined": "XP_011528077.1:p.Ile295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1199,
          "referenceAllele": "ATT",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.883_885delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:p.Ile295Ser",
        "hgvsWellDefined": "XP_011528078.1:p.Ile295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1022,
          "referenceAllele": "ATT",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Ile278Ser",
        "hgvsWellDefined": "XP_011528079.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1081,
          "referenceAllele": "ATT",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:p.Ile278Ser",
        "hgvsWellDefined": "XP_011528080.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1075,
          "referenceAllele": "ATT",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:p.Ile278Ser",
        "hgvsWellDefined": "XP_011528081.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1087,
          "referenceAllele": "ATT",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528083.1:p.Ile278Ser",
        "hgvsWellDefined": "XP_011528083.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1485,
          "referenceAllele": "ATT",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528084.1:p.Ile278Ser",
        "hgvsWellDefined": "XP_011528084.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1112,
          "referenceAllele": "ATT",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.517_519delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Ile173Ser",
        "hgvsWellDefined": "XP_011528085.1:p.Ile173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1112,
          "referenceAllele": "ATT",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.517_519delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528086.1:p.Ile173Ser",
        "hgvsWellDefined": "XP_011528086.1:p.Ile173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132888",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1086,
          "referenceAllele": "ATT",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_001171479.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133566",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1086,
          "referenceAllele": "ATT",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_001171480.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043161",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1080,
          "referenceAllele": "ATT",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_001307227.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827070319",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1145,
          "referenceAllele": "ATT",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.517_519delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308001.1:p.Ile173Ser",
        "hgvsWellDefined": "NP_001308001.1:p.Ile173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1205,
          "referenceAllele": "ATT",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.883_885delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Ile295Ser",
        "hgvsWellDefined": "XP_011528076.1:p.Ile295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 984,
          "referenceAllele": "ATT",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Ile278Ser",
        "hgvsWellDefined": "XP_011528079.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1117,
          "referenceAllele": "ATT",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.517_519delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Ile173Ser",
        "hgvsWellDefined": "XP_011528085.1:p.Ile173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 984,
          "referenceAllele": "ATT",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:p.Ile278Ser",
        "hgvsWellDefined": "XP_016883980.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1768,
          "referenceAllele": "ATT",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.883_885delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307904.1:p.Ile295Ser",
        "hgvsWellDefined": "XP_024307904.1:p.Ile295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1768,
          "referenceAllele": "ATT",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.883_885delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:p.Ile295Ser",
        "hgvsWellDefined": "XP_024307905.1:p.Ile295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1812,
          "referenceAllele": "ATT",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.517_519delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:p.Ile173Ser",
        "hgvsWellDefined": "XP_024307906.1:p.Ile173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1806,
          "referenceAllele": "ATT",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.517_519delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:p.Ile173Ser",
        "hgvsWellDefined": "XP_024307907.1:p.Ile173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1709,
          "referenceAllele": "ATT",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.517_519delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:p.Ile173Ser",
        "hgvsWellDefined": "XP_024307908.1:p.Ile173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1205,
          "referenceAllele": "ATT",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.1203_1205delinsTCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 984,
          "referenceAllele": "ATT",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.982_984delinsTCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 984,
          "referenceAllele": "ATT",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754917.2:n.982_984delinsTCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600859"
    },
    {
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1805,
          "referenceAllele": "ATT",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.1803_1805delinsTCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096487",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 984,
          "referenceAllele": "ATT",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_000062.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.832_834delinsTCG"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.832_834delinsTCG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Ile278Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Ile278Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133566",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1071,
          "referenceAllele": "ATT",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_001171480.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132888",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1071,
          "referenceAllele": "ATT",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_001171479.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043161",
      "coordinates": [
        {
          "allele": "TCG",
          "end": 1092,
          "referenceAllele": "ATT",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.832_834delinsTCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Ile278Ser",
        "hgvsWellDefined": "NP_001307227.1:p.Ile278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}