{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2579813609", "communityStandardTitle": [ "NM_000071.3(CBS):c.689_690delinsAA (p.Leu230Gln)" ], "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "TT", "end": 43065250, "referenceAllele": "CA", "start": 43065248 } ], "hgvs": [ "NC_000021.9:g.43065249_43065250delinsTT", "CM000683.2:g.43065249_43065250delinsTT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "coordinates": [ { "allele": "AA", "end": 15682, "referenceAllele": "TG", "start": 15680 } ], "hgvs": [ "NG_008938.1:g.15681_15682delinsAA", "LRG_777:g.15681_15682delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS001316" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AA", "end": 840, "referenceAllele": "TG", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.8:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000381231.4:p.Leu230Gln", "hgvsWellDefined": "ENSP00000381231.4:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS753730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.689_690delinsAA" }, "RefSeq": { "hgvs": "NM_000071.3:c.689_690delinsAA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Leu230Gln" }, "RefSeq": { "hgvs": "NP_000062.1:p.Leu230Gln" } } } }, { "coordinates": [ { "allele": "AA", "end": 928, "referenceAllele": "TG", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000352178.9:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000344460.5:p.Leu230Gln", "hgvsWellDefined": "ENSP00000344460.5:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS262839" }, { "coordinates": [ { "allele": "AA", "end": 912, "referenceAllele": "TG", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000359624.7:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000352643.3:p.Leu230Gln", "hgvsWellDefined": "ENSP00000352643.3:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264850" }, { "coordinates": [ { "allele": "AA", "end": 798, "referenceAllele": "TG", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398158.5:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000381225.1:p.Leu230Gln", "hgvsWellDefined": "ENSP00000381225.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS278160" }, { "coordinates": [ { "allele": "AA", "end": 950, "referenceAllele": "TG", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.7:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000381231.3:p.Leu230Gln", "hgvsWellDefined": "ENSP00000381231.3:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS278163" }, { "coordinates": [ { "allele": "AA", "end": 1001, "referenceAllele": "TG", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000461686.5:n.1000_1001delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS306139" }, { "@id": "http://reg.genome.network/allele/PA2579796924", "coordinates": [ { "allele": "AA", "end": 935, "referenceAllele": "TG", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.2:c.689_690delinsAA", "LRG_777t1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Leu230Gln", "hgvsWellDefined": "NP_000062.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006135" }, { "@id": "http://reg.genome.network/allele/PA2826132828", "coordinates": [ { "allele": "AA", "end": 912, "referenceAllele": "TG", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Leu230Gln", "hgvsWellDefined": "NP_001171479.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS015804" }, { "@id": "http://reg.genome.network/allele/PA2826133507", "coordinates": [ { "allele": "AA", "end": 912, "referenceAllele": "TG", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Leu230Gln", "hgvsWellDefined": "NP_001171480.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS015805" }, { "coordinates": [ { "allele": "AA", "end": 1057, "referenceAllele": "TG", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529773.1:c.740_741delinsAA" ], "proteinEffect": { "hgvs": "XP_011528075.1:p.Leu247Gln", "hgvsWellDefined": "XP_011528075.1:p.Leu247Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096838" }, { "coordinates": [ { "allele": "AA", "end": 1057, "referenceAllele": "TG", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.1:c.740_741delinsAA" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Leu247Gln", "hgvsWellDefined": "XP_011528076.1:p.Leu247Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096839" }, { "coordinates": [ { "allele": "AA", "end": 1055, "referenceAllele": "TG", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529775.1:c.740_741delinsAA" ], "proteinEffect": { "hgvs": "XP_011528077.1:p.Leu247Gln", "hgvsWellDefined": "XP_011528077.1:p.Leu247Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096840" }, { "coordinates": [ { "allele": "AA", "end": 1055, "referenceAllele": "TG", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529776.1:c.740_741delinsAA" ], "proteinEffect": { "hgvs": "XP_011528078.1:p.Leu247Gln", "hgvsWellDefined": "XP_011528078.1:p.Leu247Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096841" }, { "coordinates": [ { "allele": "AA", "end": 878, "referenceAllele": "TG", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Leu230Gln", "hgvsWellDefined": "XP_011528079.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096842" }, { "coordinates": [ { "allele": "AA", "end": 937, "referenceAllele": "TG", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529778.1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "XP_011528080.1:p.Leu230Gln", "hgvsWellDefined": "XP_011528080.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096843" }, { "coordinates": [ { "allele": "AA", "end": 931, "referenceAllele": "TG", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529779.1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "XP_011528081.1:p.Leu230Gln", "hgvsWellDefined": "XP_011528081.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096844" }, { "coordinates": [ { "allele": "AA", "end": 943, "referenceAllele": "TG", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529781.1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "XP_011528083.1:p.Leu230Gln", "hgvsWellDefined": "XP_011528083.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096845" }, { "coordinates": [ { "allele": "AA", "end": 1341, "referenceAllele": "TG", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529782.1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "XP_011528084.1:p.Leu230Gln", "hgvsWellDefined": "XP_011528084.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096846" }, { "coordinates": [ { "allele": "AA", "end": 968, "referenceAllele": "TG", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.1:c.374_375delinsAA" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Leu125Gln", "hgvsWellDefined": "XP_011528085.1:p.Leu125Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096847" }, { "coordinates": [ { "allele": "AA", "end": 968, "referenceAllele": "TG", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529784.1:c.374_375delinsAA" ], "proteinEffect": { "hgvs": "XP_011528086.1:p.Leu125Gln", "hgvsWellDefined": "XP_011528086.1:p.Leu125Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096848" }, { "@id": "http://reg.genome.network/allele/PA2826132828", "coordinates": [ { "allele": "AA", "end": 942, "referenceAllele": "TG", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.2:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Leu230Gln", "hgvsWellDefined": "NP_001171479.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511745" }, { "@id": "http://reg.genome.network/allele/PA2826133507", "coordinates": [ { "allele": "AA", "end": 942, "referenceAllele": "TG", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.2:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Leu230Gln", "hgvsWellDefined": "NP_001171480.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511746" }, { "@id": "http://reg.genome.network/allele/PA2741863177", "coordinates": [ { "allele": "AA", "end": 936, "referenceAllele": "TG", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.1:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Leu230Gln", "hgvsWellDefined": "NP_001307227.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513529" }, { "@id": "http://reg.genome.network/allele/PA2827070214", "coordinates": [ { "allele": "AA", "end": 1001, "referenceAllele": "TG", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001321072.1:c.374_375delinsAA" ], "proteinEffect": { "hgvs": "NP_001308001.1:p.Leu125Gln", "hgvsWellDefined": "NP_001308001.1:p.Leu125Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS514014" }, { "coordinates": [ { "allele": "AA", "end": 1061, "referenceAllele": "TG", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.2:c.740_741delinsAA" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Leu247Gln", "hgvsWellDefined": "XP_011528076.1:p.Leu247Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS549665" }, { "coordinates": [ { "allele": "AA", "end": 840, "referenceAllele": "TG", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.2:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Leu230Gln", "hgvsWellDefined": "XP_011528079.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS549666" }, { "coordinates": [ { "allele": "AA", "end": 973, "referenceAllele": "TG", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.2:c.374_375delinsAA" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Leu125Gln", "hgvsWellDefined": "XP_011528085.1:p.Leu125Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS549667" }, { "coordinates": [ { "allele": "AA", "end": 840, "referenceAllele": "TG", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_017028491.2:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "XP_016883980.1:p.Leu230Gln", "hgvsWellDefined": "XP_016883980.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS578228" }, { "coordinates": [ { "allele": "AA", "end": 1624, "referenceAllele": "TG", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452136.1:c.740_741delinsAA" ], "proteinEffect": { "hgvs": "XP_024307904.1:p.Leu247Gln", "hgvsWellDefined": "XP_024307904.1:p.Leu247Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS585638" }, { "coordinates": [ { "allele": "AA", "end": 1624, "referenceAllele": "TG", "start": 1622 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452137.1:c.740_741delinsAA" ], "proteinEffect": { "hgvs": "XP_024307905.1:p.Leu247Gln", "hgvsWellDefined": "XP_024307905.1:p.Leu247Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS585639" }, { "coordinates": [ { "allele": "AA", "end": 1668, "referenceAllele": "TG", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452138.1:c.374_375delinsAA" ], "proteinEffect": { "hgvs": "XP_024307906.1:p.Leu125Gln", "hgvsWellDefined": "XP_024307906.1:p.Leu125Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS585640" }, { "coordinates": [ { "allele": "AA", "end": 1662, "referenceAllele": "TG", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452139.1:c.374_375delinsAA" ], "proteinEffect": { "hgvs": "XP_024307907.1:p.Leu125Gln", "hgvsWellDefined": "XP_024307907.1:p.Leu125Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS585641" }, { "coordinates": [ { "allele": "AA", "end": 1565, "referenceAllele": "TG", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452140.1:c.374_375delinsAA" ], "proteinEffect": { "hgvs": "XP_024307908.1:p.Leu125Gln", "hgvsWellDefined": "XP_024307908.1:p.Leu125Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS585642" }, { "coordinates": [ { "allele": "AA", "end": 1061, "referenceAllele": "TG", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754915.1:n.1060_1061delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS600857" }, { "coordinates": [ { "allele": "AA", "end": 840, "referenceAllele": "TG", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754916.2:n.839_840delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS600858" }, { "coordinates": [ { "allele": "AA", "end": 840, "referenceAllele": "TG", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754917.2:n.839_840delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS600859" }, { "coordinates": [ { "allele": "AA", "end": 840, "referenceAllele": "TG", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_002958634.1:n.839_840delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS604759" }, { "@id": "http://reg.genome.network/allele/PA2579796924", "coordinates": [ { "allele": "AA", "end": 840, "referenceAllele": "TG", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.3:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Leu230Gln", "hgvsWellDefined": "NP_000062.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.689_690delinsAA" }, "RefSeq": { "hgvs": "NM_000071.3:c.689_690delinsAA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Leu230Gln" }, "RefSeq": { "hgvs": "NP_000062.1:p.Leu230Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2826133507", "coordinates": [ { "allele": "AA", "end": 927, "referenceAllele": "TG", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Leu230Gln", "hgvsWellDefined": "NP_001171480.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826132828", "coordinates": [ { "allele": "AA", "end": 927, "referenceAllele": "TG", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Leu230Gln", "hgvsWellDefined": "NP_001171479.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA2741863177", "coordinates": [ { "allele": "AA", "end": 948, "referenceAllele": "TG", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.689_690delinsAA" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Leu230Gln", "hgvsWellDefined": "NP_001307227.1:p.Leu230Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }