{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367651382",
  "communityStandardTitle": [
    "NM_016038.4(SBDS):c.258+1G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66459198C>A?assembly=hg19",
        "id": "chr7:g.66459198C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66994211C>A?assembly=hg38",
        "id": "chr7:g.66994211C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113993992",
        "rs": 113993992
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66994211-C-A?dataset=gnomad_r4",
        "id": "7-66994211-C-A",
        "variant": "7:66994211 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 66994211,
          "referenceAllele": "C",
          "start": 66994210
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66994211C>A",
        "CM000669.2:g.66994211C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 66459198,
          "referenceAllele": "C",
          "start": 66459197
        }
      ],
      "hgvs": [
        "NC_000007.13:g.66459198C>A",
        "CM000669.1:g.66459198C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 66096633,
          "referenceAllele": "C",
          "start": 66096632
        }
      ],
      "hgvs": [
        "NC_000007.12:g.66096633C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6391,
          "referenceAllele": "G",
          "start": 6390
        }
      ],
      "hgvs": [
        "NG_007277.1:g.6391G>T",
        "LRG_104:g.6391G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2407,
          "referenceAllele": "C",
          "start": 2406
        }
      ],
      "hgvs": [
        "NG_033069.1:g.2407C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005401"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000414306.6:c.250+9G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394586.1:n.250+9G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 225,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697860.1:n.225+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 374,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697861.1:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513460.1:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697862.1:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513461.1:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697863.1:c.201+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513462.1:n.201+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1402,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697864.1:n.1402+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697865.1:c.201+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513463.1:n.201+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 619,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697866.1:c.-61+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513464.1:n.-61+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 98,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697867.1:c.98+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 360,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697868.1:c.*22+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513466.1:n.*22+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697869.1:c.194+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513467.1:n.194+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000697897.1:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513469.1:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 427,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000246868.7:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246868.2:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246868.7:c.258+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_016038.4:c.258+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246868.2:n.258+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_057122.2:n.258+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 442,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000246868.6:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246868.2:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000414306.5:c.250+9G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394586.1:n.250+9G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000463579.1:n.147+9G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000490953.5:n.399+9G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 428,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "ENST00000617799.1:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483040.1:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 442,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "NM_016038.2:c.258+1G>T",
        "LRG_104t1:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057122.2:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 537,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "NM_016038.3:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057122.2:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 427,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "NM_016038.4:c.258+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057122.2:n.258+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246868.7:c.258+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_016038.4:c.258+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246868.2:n.258+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_057122.2:n.258+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}