{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043709", "communityStandardTitle": [ "NM_005660.3(SLC35A2):c.617_620del (p.Val206GlyfsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361244[alleleid]", "alleleId": 361244, "preferredName": "NM_005660.3(SLC35A2):c.617_620del (p.Val206fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374354", "RCV": [ "RCV000415221" ], "variationId": 374354 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48762566_48762569del?assembly=hg19", "id": "chrX:g.48762566_48762569del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.48905289_48905292del?assembly=hg38", "id": "chrX:g.48905289_48905292del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518719", "rs": 1057518719 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "", "end": 48905292, "referenceAllele": "ACGA", "start": 48905288 } ], "hgvs": [ "NC_000023.11:g.48905289_48905292del", "CM000685.2:g.48905289_48905292del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "", "end": 48762569, "referenceAllele": "ACGA", "start": 48762565 } ], "hgvs": [ "NC_000023.10:g.48762566_48762569del", "CM000685.1:g.48762566_48762569del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "", "end": 48647513, "referenceAllele": "ACGA", "start": 48647509 } ], "hgvs": [ "NC_000023.9:g.48647510_48647513del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "", "end": 11670, "referenceAllele": "TCGT", "start": 11666 } ], "hgvs": [ "NG_034300.1:g.11667_11670del" ], "referenceSequence": "http://reg.genome.network/refseq/RS005841" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 630, "referenceAllele": "TCGT", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000247138.11:c.617_620del" ], "proteinEffect": { "hgvs": "ENSP00000247138.5:p.Val206GlyfsTer?", "hgvsWellDefined": "ENSP00000247138.5:p.[Val206_Leu211delinsGlyProProVal;Ser213_Gly217delinsProProAlaSerGln;Tyr219_Leu224delinsSerThrLeuArgArgSerSer;Gly226_Leu236delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS741323", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000247138.11:c.617_620del" }, "RefSeq": { "hgvs": "NM_005660.3:c.617_620del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000247138.5:p.Val206GlyfsTer?" }, "RefSeq": { "hgvs": "NP_005651.1:p.Val206GlyfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 843, "referenceAllele": "TCGT", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000247138.10:c.617_620del" ], "proteinEffect": { "hgvs": "ENSP00000247138.5:p.Val206GlyfsTer?", "hgvsWellDefined": "ENSP00000247138.5:p.[Val206_Leu211delinsGlyProProVal;Ser213_Gly217delinsProProAlaSerGln;Tyr219_Leu224delinsSerThrLeuArgArgSerSer;Gly226_Leu236delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS249494" }, { "coordinates": [ { "allele": "", "end": 435, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 435, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000376515.8:c.355-400_355-397del" ], "proteinEffect": { "hgvs": "ENSP00000365698.3:n.355-400_355-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS271199" }, { "coordinates": [ { "allele": "", "end": 942, "referenceAllele": "TCGT", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000376521.6:c.617_620del" ], "proteinEffect": { "hgvs": "ENSP00000365704.1:p.Val206GlyfsTer?", "hgvsWellDefined": "ENSP00000365704.1:p.[Val206_Leu211delinsGlyProProVal;Ser213_Gly217delinsProProAlaSerGln;Tyr219_Leu224delinsSerThrLeuArgArgSerSer;Gly226_Leu236delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS271200" }, { "coordinates": [ { "allele": "", "end": 436, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 436, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000376529.8:c.427-400_427-397del" ], "proteinEffect": { "hgvs": "ENSP00000365712.3:n.427-400_427-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS271204" }, { "coordinates": [ { "allele": "", "end": 211, "endIntronDirection": "-", "endIntronOffset": 29, "referenceAllele": "TCGT", "start": 211, "startIntronDirection": "-", "startIntronOffset": 33 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000413561.7:c.212-33_212-30del" ], "referenceSequence": "http://reg.genome.network/refseq/RS283124" }, { "coordinates": [ { "allele": "", "end": 459, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 459, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000445167.7:c.427-400_427-397del" ], "proteinEffect": { "hgvs": "ENSP00000402726.2:n.427-400_427-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS298155" }, { "coordinates": [ { "allele": "", "end": 754, "referenceAllele": "TCGT", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000446885.1:c.401_404del" ], "proteinEffect": { "hgvs": "ENSP00000415518.1:p.Val134GlyfsTer?", "hgvsWellDefined": "ENSP00000415518.1:p.[Val134_Leu139delinsGlyProProVal;Ser141_Gly145delinsProProAlaSerGln;Tyr147_Leu152delinsSerThrLeuArgArgSerSer;Gly154_Leu164delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS298950" }, { "coordinates": [ { "allele": "", "end": 714, "referenceAllele": "TCGT", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000452555.7:c.701_704del" ], "proteinEffect": { "hgvs": "ENSP00000416002.2:p.Val234GlyfsTer?", "hgvsWellDefined": "ENSP00000416002.2:p.[Val234_Leu239delinsGlyProProVal;Ser241_Gly245delinsProProAlaSerGln;Tyr247_Leu252delinsSerThrLeuArgArgSerSer;Gly254_Leu264delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS301680" }, { "coordinates": [ { "allele": "", "end": 669, "referenceAllele": "TCGT", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000616181.5:c.656_659del" ], "proteinEffect": { "hgvs": "ENSP00000478617.1:p.Val219GlyfsTer?", "hgvsWellDefined": "ENSP00000478617.1:p.[Val219_Leu224delinsGlyProProVal;Ser226_Gly230delinsProProAlaSerGln;Tyr232_Leu237delinsSerThrLeuArgArgSerSer;Gly239_Leu249delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS402953" }, { "coordinates": [ { "allele": "", "end": 635, "referenceAllele": "TCGT", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000635285.1:c.617_620del" ], "proteinEffect": { "hgvs": "ENSP00000489484.1:p.Val206GlyfsTer?", "hgvsWellDefined": "ENSP00000489484.1:p.[Val206_Leu211delinsGlyProProVal;Ser213_Gly217delinsProProAlaSerGln;Tyr219_Leu224delinsSerThrLeuArgArgSerSer;Gly226_Leu236delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS408091" }, { "coordinates": [ { "allele": "", "end": 424, "endIntronDirection": "+", "endIntronOffset": 1103, "referenceAllele": "TCGT", "start": 424, "startIntronDirection": "+", "startIntronOffset": 1099 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000635460.1:c.424+1100_424+1103del" ], "referenceSequence": "http://reg.genome.network/refseq/RS408136" }, { "coordinates": [ { "allele": "", "end": 447, "referenceAllele": "TCGT", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000635589.1:c.434_437del" ], "proteinEffect": { "hgvs": "ENSP00000489197.1:p.Val145GlyfsTer?", "hgvsWellDefined": "ENSP00000489197.1:p.[Val145_Leu150delinsGlyProProVal;Ser152_Gly156delinsProProAlaSerGln;Tyr158_Leu163delinsSerThrLeuArgArgSerSer;Gly165_Leu175delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS408181" }, { "coordinates": [ { "allele": "", "end": 707, "referenceAllele": "TCGT", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "ENST00000635628.1:c.*511_*514del" ], "proteinEffect": { "hgvs": "ENSP00000489613.1:n.*511_*514del" }, "referenceSequence": "http://reg.genome.network/refseq/RS408197" }, { "coordinates": [ { "allele": "", "end": 748, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 748, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001032289.2:c.427-400_427-397del" ], "proteinEffect": { "hgvs": "NP_001027460.1:n.427-400_427-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS009061" }, { "coordinates": [ { "allele": "", "end": 942, "referenceAllele": "TCGT", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001042498.2:c.617_620del" ], "proteinEffect": { "hgvs": "NP_001035963.1:p.Val206GlyfsTer?", "hgvsWellDefined": "NP_001035963.1:p.[Val206_Leu211delinsGlyProProVal;Ser213_Gly217delinsProProAlaSerGln;Tyr219_Leu224delinsSerThrLeuArgArgSerSer;Gly226_Leu236delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009727" }, { "coordinates": [ { "allele": "", "end": 748, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 748, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282647.1:c.427-400_427-397del" ], "proteinEffect": { "hgvs": "NP_001269576.1:n.427-400_427-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS022120" }, { "coordinates": [ { "allele": "", "end": 435, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 435, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282648.1:c.355-400_355-397del" ], "proteinEffect": { "hgvs": "NP_001269577.1:n.355-400_355-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS022121" }, { "coordinates": [ { "allele": "", "end": 759, "referenceAllele": "TCGT", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282649.1:c.434_437del" ], "proteinEffect": { "hgvs": "NP_001269578.1:p.Val145GlyfsTer?", "hgvsWellDefined": "NP_001269578.1:p.[Val145_Leu150delinsGlyProProVal;Ser152_Gly156delinsProProAlaSerGln;Tyr158_Leu163delinsSerThrLeuArgArgSerSer;Gly165_Leu175delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS022122" }, { "coordinates": [ { "allele": "", "end": 981, "referenceAllele": "TCGT", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282650.1:c.656_659del" ], "proteinEffect": { "hgvs": "NP_001269579.1:p.Val219GlyfsTer?", "hgvsWellDefined": "NP_001269579.1:p.[Val219_Leu224delinsGlyProProVal;Ser226_Gly230delinsProProAlaSerGln;Tyr232_Leu237delinsSerThrLeuArgArgSerSer;Gly239_Leu249delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS022123" }, { "coordinates": [ { "allele": "", "end": 1026, "referenceAllele": "TCGT", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282651.1:c.701_704del" ], "proteinEffect": { "hgvs": "NP_001269580.1:p.Val234GlyfsTer?", "hgvsWellDefined": "NP_001269580.1:p.[Val234_Leu239delinsGlyProProVal;Ser241_Gly245delinsProProAlaSerGln;Tyr247_Leu252delinsSerThrLeuArgArgSerSer;Gly254_Leu264delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS022124" }, { "coordinates": [ { "allele": "", "end": 942, "referenceAllele": "TCGT", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_005660.2:c.617_620del" ], "proteinEffect": { "hgvs": "NP_005651.1:p.Val206GlyfsTer?", "hgvsWellDefined": "NP_005651.1:p.[Val206_Leu211delinsGlyProProVal;Ser213_Gly217delinsProProAlaSerGln;Tyr219_Leu224delinsSerThrLeuArgArgSerSer;Gly226_Leu236delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS030746" }, { "coordinates": [ { "allele": "", "end": 630, "referenceAllele": "TCGT", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_005660.3:c.617_620del" ], "proteinEffect": { "hgvs": "NP_005651.1:p.Val206GlyfsTer?", "hgvsWellDefined": "NP_005651.1:p.[Val206_Leu211delinsGlyProProVal;Ser213_Gly217delinsProProAlaSerGln;Tyr219_Leu224delinsSerThrLeuArgArgSerSer;Gly226_Leu236delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS667079", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000247138.11:c.617_620del" }, "RefSeq": { "hgvs": "NM_005660.3:c.617_620del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000247138.5:p.Val206GlyfsTer?" }, "RefSeq": { "hgvs": "NP_005651.1:p.Val206GlyfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 436, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 436, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001032289.3:c.427-400_427-397del" ], "proteinEffect": { "hgvs": "NP_001027460.1:n.427-400_427-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS675762" }, { "coordinates": [ { "allele": "", "end": 630, "referenceAllele": "TCGT", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001042498.3:c.617_620del" ], "proteinEffect": { "hgvs": "NP_001035963.1:p.Val206GlyfsTer?", "hgvsWellDefined": "NP_001035963.1:p.[Val206_Leu211delinsGlyProProVal;Ser213_Gly217delinsProProAlaSerGln;Tyr219_Leu224delinsSerThrLeuArgArgSerSer;Gly226_Leu236delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676042" }, { "coordinates": [ { "allele": "", "end": 436, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 436, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282647.2:c.427-400_427-397del" ], "proteinEffect": { "hgvs": "NP_001269576.1:n.427-400_427-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS681850" }, { "coordinates": [ { "allele": "", "end": 447, "referenceAllele": "TCGT", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282649.2:c.434_437del" ], "proteinEffect": { "hgvs": "NP_001269578.1:p.Val145GlyfsTer?", "hgvsWellDefined": "NP_001269578.1:p.[Val145_Leu150delinsGlyProProVal;Ser152_Gly156delinsProProAlaSerGln;Tyr158_Leu163delinsSerThrLeuArgArgSerSer;Gly165_Leu175delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681851" }, { "coordinates": [ { "allele": "", "end": 669, "referenceAllele": "TCGT", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282650.2:c.656_659del" ], "proteinEffect": { "hgvs": "NP_001269579.1:p.Val219GlyfsTer?", "hgvsWellDefined": "NP_001269579.1:p.[Val219_Leu224delinsGlyProProVal;Ser226_Gly230delinsProProAlaSerGln;Tyr232_Leu237delinsSerThrLeuArgArgSerSer;Gly239_Leu249delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681852" }, { "coordinates": [ { "allele": "", "end": 714, "referenceAllele": "TCGT", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282651.2:c.701_704del" ], "proteinEffect": { "hgvs": "NP_001269580.1:p.Val234GlyfsTer?", "hgvsWellDefined": "NP_001269580.1:p.[Val234_Leu239delinsGlyProProVal;Ser241_Gly245delinsProProAlaSerGln;Tyr247_Leu252delinsSerThrLeuArgArgSerSer;Gly254_Leu264delinsAlaAlaGlnAlaProCysGlyCysAlaThrCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681853" }, { "coordinates": [ { "allele": "", "end": 435, "endIntronDirection": "-", "endIntronOffset": 396, "referenceAllele": "TCGT", "start": 435, "startIntronDirection": "-", "startIntronOffset": 400 } ], "gene": "http://reg.genome.network/gene/GN011022", "geneNCBI_id": 7355, "geneSymbol": "SLC35A2", "hgvs": [ "NM_001282648.2:c.355-400_355-397del" ], "proteinEffect": { "hgvs": "NP_001269577.1:n.355-400_355-397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS715887" } ], "type": "nucleotide" }