{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA363506772", "communityStandardTitle": [ "NM_000500.9(CYP21A2):c.830_841del (p.Leu277_Gly280del)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361971[alleleid]", "alleleId": 361971, "preferredName": "NM_000500.9(CYP21A2):c.830_841del (p.Leu277_Gly280del)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375323", "variationId": 375323 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.32007873_32007884del?assembly=hg19", "id": "chr6:g.32007873_32007884del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.32040096_32040107del?assembly=hg38", "id": "chr6:g.32040096_32040107del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519068", "rs": 1057519068 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "", "end": 32040107, "referenceAllele": "TCCTGGAAGGGC", "start": 32040095 } ], "hgvs": [ "NC_000006.12:g.32040096_32040107del", "CM000668.2:g.32040096_32040107del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "", "end": 32007884, "referenceAllele": "TCCTGGAAGGGC", "start": 32007872 } ], "hgvs": [ "NC_000006.11:g.32007873_32007884del", "CM000668.1:g.32007873_32007884del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "", "end": 32115863, "referenceAllele": "TCCTGGAAGGGC", "start": 32115851 } ], "hgvs": [ "NC_000006.10:g.32115852_32115863del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "", "end": 6800, "referenceAllele": "TCCTGGAAGGGC", "start": 6788 } ], "hgvs": [ "NG_007941.2:g.6789_6800del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000708" }, { "coordinates": [ { "allele": "", "end": 74281, "referenceAllele": "TTCCAGGAGCCC", "start": 74269 } ], "hgvs": [ "NG_008337.2:g.74270_74281del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001038" }, { "coordinates": [ { "allele": "", "end": 6803, "referenceAllele": "TCCTGGAAGGGC", "start": 6791 } ], "hgvs": [ "NG_007941.3:g.6792_6803del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000709" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 849, "referenceAllele": "TCCTGGAAGGGC", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000644719.2:c.830_841del" ], "proteinEffect": { "hgvs": "ENSP00000496625.1:p.Leu277_Gly280del", "hgvsWellDefined": "ENSP00000496625.1:p.Leu277_Gly280del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767963", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644719.2:c.830_841del" }, "RefSeq": { "hgvs": "NM_000500.9:c.830_841del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496625.1:p.Leu277_Gly280del" }, "RefSeq": { "hgvs": "NP_000491.4:p.Leu277_Gly280del" } } } }, { "coordinates": [ { "allele": "", "end": 999, "referenceAllele": "TCCTGGAAGGGC", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000418967.6:c.830_841del" ], "proteinEffect": { "hgvs": "ENSP00000408860.2:p.Leu277_Gly280del", "hgvsWellDefined": "ENSP00000408860.2:p.Leu277_Gly280del" }, "referenceSequence": "http://reg.genome.network/refseq/RS285656" }, { "coordinates": [ { "allele": "", "end": 759, "referenceAllele": "TCCTGGAAGGGC", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000435122.3:c.740_751del" ], "proteinEffect": { "hgvs": "ENSP00000415043.2:p.Leu247_Gly250del", "hgvsWellDefined": "ENSP00000415043.2:p.Leu247_Gly250del" }, "referenceSequence": "http://reg.genome.network/refseq/RS293369" }, { "coordinates": [ { "allele": "", "end": 899, "referenceAllele": "TCCTGGAAGGGC", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000479074.5:n.888_899del" ], "referenceSequence": "http://reg.genome.network/refseq/RS319535" }, { "coordinates": [ { "allele": "", "end": 957, "referenceAllele": "TCCTGGAAGGGC", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000479730.5:n.946_957del" ], "referenceSequence": "http://reg.genome.network/refseq/RS320037" }, { "coordinates": [ { "allele": "", "end": 1010, "referenceAllele": "TCCTGGAAGGGC", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000483041.5:n.999_1010del" ], "referenceSequence": "http://reg.genome.network/refseq/RS322604" }, { "coordinates": [ { "allele": "", "end": 918, "endIntronDirection": "+", "endIntronOffset": 272, "referenceAllele": "TCCTGGAAGGGC", "start": 918, "startIntronDirection": "+", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000486063.5:n.918+261_918+272del" ], "referenceSequence": "http://reg.genome.network/refseq/RS324957" }, { "@id": "http://reg.genome.network/allele/PA645381423", "coordinates": [ { "allele": "", "end": 948, "referenceAllele": "TCCTGGAAGGGC", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_000500.7:c.830_841del" ], "proteinEffect": { "hgvs": "NP_000491.4:p.Leu277_Gly280del", "hgvsWellDefined": "NP_000491.4:p.Leu277_Gly280del" }, "referenceSequence": "http://reg.genome.network/refseq/RS006554" }, { "coordinates": [ { "allele": "", "end": 858, "referenceAllele": "TCCTGGAAGGGC", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001128590.3:c.740_751del" ], "proteinEffect": { "hgvs": "NP_001122062.3:p.Leu247_Gly250del", "hgvsWellDefined": "NP_001122062.3:p.Leu247_Gly250del" }, "referenceSequence": "http://reg.genome.network/refseq/RS011786" }, { "coordinates": [ { "allele": "", "end": 913, "referenceAllele": "TCCTGGAAGGGC", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "XM_011514314.1:c.425_436del" ], "proteinEffect": { "hgvs": "XP_011512616.1:p.Leu142_Gly145del", "hgvsWellDefined": "XP_011512616.1:p.Leu142_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS081539" }, { "@id": "http://reg.genome.network/allele/PA645381423", "coordinates": [ { "allele": "", "end": 849, "referenceAllele": "TCCTGGAAGGGC", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_000500.9:c.830_841del" ], "proteinEffect": { "hgvs": "NP_000491.4:p.Leu277_Gly280del", "hgvsWellDefined": "NP_000491.4:p.Leu277_Gly280del" }, "referenceSequence": "http://reg.genome.network/refseq/RS510804", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644719.2:c.830_841del" }, "RefSeq": { "hgvs": "NM_000500.9:c.830_841del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496625.1:p.Leu277_Gly280del" }, "RefSeq": { "hgvs": "NP_000491.4:p.Leu277_Gly280del" } } } }, { "coordinates": [ { "allele": "", "end": 977, "referenceAllele": "TCCTGGAAGGGC", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001368143.1:c.425_436del" ], "proteinEffect": { "hgvs": "NP_001355072.1:p.Leu142_Gly145del", "hgvsWellDefined": "NP_001355072.1:p.Leu142_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS691373" }, { "@id": "http://reg.genome.network/allele/PA3057576697", "coordinates": [ { "allele": "", "end": 887, "referenceAllele": "TCCTGGAAGGGC", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001368144.1:c.425_436del" ], "proteinEffect": { "hgvs": "NP_001355073.1:p.Leu142_Gly145del", "hgvsWellDefined": "NP_001355073.1:p.Leu142_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS691374" }, { "coordinates": [ { "allele": "", "end": 759, "referenceAllele": "TCCTGGAAGGGC", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001128590.4:c.740_751del" ], "proteinEffect": { "hgvs": "NP_001122062.3:p.Leu247_Gly250del", "hgvsWellDefined": "NP_001122062.3:p.Leu247_Gly250del" }, "referenceSequence": "http://reg.genome.network/refseq/RS712257" }, { "coordinates": [ { "allele": "", "end": 868, "referenceAllele": "TCCTGGAAGGGC", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001368143.2:c.425_436del" ], "proteinEffect": { "hgvs": "NP_001355072.1:p.Leu142_Gly145del", "hgvsWellDefined": "NP_001355072.1:p.Leu142_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS721082" }, { "@id": "http://reg.genome.network/allele/PA3057576697", "coordinates": [ { "allele": "", "end": 778, "referenceAllele": "TCCTGGAAGGGC", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001368144.2:c.425_436del" ], "proteinEffect": { "hgvs": "NP_001355073.1:p.Leu142_Gly145del", "hgvsWellDefined": "NP_001355073.1:p.Leu142_Gly145del" }, "referenceSequence": "http://reg.genome.network/refseq/RS721083" } ], "type": "nucleotide" }