{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276960",
  "communityStandardTitle": [
    "NM_004247.4(EFTUD2):c.1297_1298del (p.Met433ValfsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=208399[alleleid]",
        "alleleId": 208399,
        "preferredName": "NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210915",
        "RCV": [
          "RCV000192370"
        ],
        "variationId": 210915
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42941138_42941139del?assembly=hg19",
        "id": "chr17:g.42941138_42941139del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44863770_44863771del?assembly=hg38",
        "id": "chr17:g.44863770_44863771del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045551",
        "rs": 797045551
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 44863771,
          "referenceAllele": "AT",
          "start": 44863769
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44863770_44863771del",
        "CM000679.2:g.44863770_44863771del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 42941139,
          "referenceAllele": "AT",
          "start": 42941137
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42941138_42941139del",
        "CM000679.1:g.42941138_42941139del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 40296665,
          "referenceAllele": "AT",
          "start": 40296663
        }
      ],
      "hgvs": [
        "NC_000017.9:g.40296664_40296665del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 40856,
          "referenceAllele": "AT",
          "start": 40854
        }
      ],
      "hgvs": [
        "NG_032674.1:g.40855_40856del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1379,
          "referenceAllele": "AT",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000426333.7:c.1297_1298del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392094.1:p.Met433ValfsTer17",
        "hgvsWellDefined": "ENSP00000392094.1:p.[Met433Val;Val435_Pro439delinsAlaAlaTyrProPhe;Pro441del;Val443del;Ala445_Thr454del;Gly456_Ser459delinsArgGlnAlaGln;Leu461_Gly462del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426333.7:c.1297_1298del"
          },
          "RefSeq": {
            "hgvs": "NM_004247.4:c.1297_1298del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392094.1:p.Met433ValfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_004238.3:p.Met433ValfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1270,
          "referenceAllele": "AT",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000402521.7:c.1192_1193del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385873.2:p.Met398ValfsTer17",
        "hgvsWellDefined": "ENSP00000385873.2:p.[Met398Val;Val400_Pro404delinsAlaAlaTyrProPhe;Pro406del;Val408del;Ala410_Thr419del;Gly421_Ser424delinsArgGlnAlaGln;Leu426_Gly427del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1596,
          "referenceAllele": "AT",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000426333.6:c.1297_1298del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392094.1:p.Met433ValfsTer17",
        "hgvsWellDefined": "ENSP00000392094.1:p.[Met433Val;Val435_Pro439delinsAlaAlaTyrProPhe;Pro441del;Val443del;Ala445_Thr454del;Gly456_Ser459delinsArgGlnAlaGln;Leu461_Gly462del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 176,
          "referenceAllele": "AT",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000585616.5:n.175_176del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 316,
          "referenceAllele": "AT",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000585794.5:n.315_316del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388952"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 353,
          "referenceAllele": "AT",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000586654.5:n.352_353del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389543"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 293,
          "referenceAllele": "AT",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000587914.1:n.292_293del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390414"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1026,
          "referenceAllele": "AT",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000590367.5:n.1025_1026del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392140"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1696,
          "referenceAllele": "AT",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000591382.5:c.1297_1298del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467805.1:p.Met433ValfsTer17",
        "hgvsWellDefined": "ENSP00000467805.1:p.[Met433Val;Val435_Pro439delinsAlaAlaTyrProPhe;Pro441del;Val443del;Ala445_Thr454del;Gly456_Ser459delinsArgGlnAlaGln;Leu461_Gly462del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1335,
          "referenceAllele": "AT",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "ENST00000592576.5:c.1267_1268del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465058.1:p.Met423ValfsTer17",
        "hgvsWellDefined": "ENSP00000465058.1:p.[Met423Val;Val425_Pro429delinsAlaAlaTyrProPhe;Pro431del;Val433del;Ala435_Thr444del;Gly446_Ser449delinsArgGlnAlaGln;Leu451_Gly452del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1450,
          "referenceAllele": "AT",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NM_001142605.1:c.1192_1193del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136077.1:p.Met398ValfsTer17",
        "hgvsWellDefined": "NP_001136077.1:p.[Met398Val;Val400_Pro404delinsAlaAlaTyrProPhe;Pro406del;Val408del;Ala410_Thr419del;Gly421_Ser424delinsArgGlnAlaGln;Leu426_Gly427del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013000"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1696,
          "referenceAllele": "AT",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NM_001258353.1:c.1297_1298del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245282.1:p.Met433ValfsTer17",
        "hgvsWellDefined": "NP_001245282.1:p.[Met433Val;Val435_Pro439delinsAlaAlaTyrProPhe;Pro441del;Val443del;Ala445_Thr454del;Gly456_Ser459delinsArgGlnAlaGln;Leu461_Gly462del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1529,
          "referenceAllele": "AT",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NM_001258354.1:c.1267_1268del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245283.1:p.Met423ValfsTer17",
        "hgvsWellDefined": "NP_001245283.1:p.[Met423Val;Val425_Pro429delinsAlaAlaTyrProPhe;Pro431del;Val433del;Ala435_Thr444del;Gly446_Ser449delinsArgGlnAlaGln;Leu451_Gly452del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019822"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1559,
          "referenceAllele": "AT",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NM_004247.3:c.1297_1298del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004238.3:p.Met433ValfsTer17",
        "hgvsWellDefined": "NP_004238.3:p.[Met433Val;Val435_Pro439delinsAlaAlaTyrProPhe;Pro441del;Val443del;Ala445_Thr454del;Gly456_Ser459delinsArgGlnAlaGln;Leu461_Gly462del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029419"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1383,
          "referenceAllele": "AT",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "XR_934602.1:n.1382_1383del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1379,
          "referenceAllele": "AT",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "XR_934602.3:n.1378_1379del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610741"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1379,
          "referenceAllele": "AT",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NM_004247.4:c.1297_1298del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004238.3:p.Met433ValfsTer17",
        "hgvsWellDefined": "NP_004238.3:p.[Met433Val;Val435_Pro439delinsAlaAlaTyrProPhe;Pro441del;Val443del;Ala445_Thr454del;Gly456_Ser459delinsArgGlnAlaGln;Leu461_Gly462del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666382",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426333.7:c.1297_1298del"
          },
          "RefSeq": {
            "hgvs": "NM_004247.4:c.1297_1298del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392094.1:p.Met433ValfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_004238.3:p.Met433ValfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1270,
          "referenceAllele": "AT",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NM_001142605.2:c.1192_1193del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136077.1:p.Met398ValfsTer17",
        "hgvsWellDefined": "NP_001136077.1:p.[Met398Val;Val400_Pro404delinsAlaAlaTyrProPhe;Pro406del;Val408del;Ala410_Thr419del;Gly421_Ser424delinsArgGlnAlaGln;Leu426_Gly427del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1696,
          "referenceAllele": "AT",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NM_001258353.2:c.1297_1298del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245282.1:p.Met433ValfsTer17",
        "hgvsWellDefined": "NP_001245282.1:p.[Met433Val;Val435_Pro439delinsAlaAlaTyrProPhe;Pro441del;Val443del;Ala445_Thr454del;Gly456_Ser459delinsArgGlnAlaGln;Leu461_Gly462del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714943"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1349,
          "referenceAllele": "AT",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030858",
      "geneNCBI_id": 9343,
      "geneSymbol": "EFTUD2",
      "hgvs": [
        "NM_001258354.2:c.1267_1268del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245283.1:p.Met423ValfsTer17",
        "hgvsWellDefined": "NP_001245283.1:p.[Met423Val;Val425_Pro429delinsAlaAlaTyrProPhe;Pro431del;Val433del;Ala435_Thr444del;Gly446_Ser449delinsArgGlnAlaGln;Leu451_Gly452del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714944"
    }
  ],
  "type": "nucleotide"
}