{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2579803099", "communityStandardTitle": [ "NM_000071.3(CBS):c.1111_1113delinsCTT (p.Val371Leu)" ], "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "AAG", "end": 43060475, "referenceAllele": "CAC", "start": 43060472 } ], "hgvs": [ "NC_000021.9:g.43060473_43060475delinsAAG", "CM000683.2:g.43060473_43060475delinsAAG" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "coordinates": [ { "allele": "CTT", "end": 20458, "referenceAllele": "GTG", "start": 20455 } ], "hgvs": [ "NG_008938.1:g.20456_20458delinsCTT", "LRG_777:g.20456_20458delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS001316" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CTT", "end": 1263, "referenceAllele": "GTG", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.8:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "ENSP00000381231.4:p.Val371Leu", "hgvsWellDefined": "ENSP00000381231.4:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.1111_1113delinsCTT" }, "RefSeq": { "hgvs": "NM_000071.3:c.1111_1113delinsCTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Val371Leu" }, "RefSeq": { "hgvs": "NP_000062.1:p.Val371Leu" } } } }, { "coordinates": [ { "allele": "CTT", "end": 1351, "referenceAllele": "GTG", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000352178.9:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "ENSP00000344460.5:p.Val371Leu", "hgvsWellDefined": "ENSP00000344460.5:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS262839" }, { "coordinates": [ { "allele": "CTT", "end": 1335, "referenceAllele": "GTG", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000359624.7:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "ENSP00000352643.3:p.Val371Leu", "hgvsWellDefined": "ENSP00000352643.3:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS264850" }, { "coordinates": [ { "allele": "CTT", "end": 1221, "referenceAllele": "GTG", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398158.5:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "ENSP00000381225.1:p.Val371Leu", "hgvsWellDefined": "ENSP00000381225.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS278160" }, { "coordinates": [ { "allele": "CTT", "end": 1373, "referenceAllele": "GTG", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.7:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "ENSP00000381231.3:p.Val371Leu", "hgvsWellDefined": "ENSP00000381231.3:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS278163" }, { "coordinates": [ { "allele": "CTT", "end": 74, "referenceAllele": "GTG", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000430013.1:c.72_74delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS290940" }, { "coordinates": [ { "allele": "CTT", "end": 1424, "referenceAllele": "GTG", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000461686.5:n.1422_1424delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS306139" }, { "coordinates": [ { "allele": "CTT", "end": 48, "referenceAllele": "GTG", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000491776.1:n.46_48delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS329303" }, { "coordinates": [ { "allele": "CTT", "end": 613, "referenceAllele": "GTG", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000496485.1:n.611_613delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS332938" }, { "@id": "http://reg.genome.network/allele/PA2579799934", "coordinates": [ { "allele": "CTT", "end": 1358, "referenceAllele": "GTG", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.2:c.1111_1113delinsCTT", "LRG_777t1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Val371Leu", "hgvsWellDefined": "NP_000062.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006135" }, { "@id": "http://reg.genome.network/allele/PA2826133013", "coordinates": [ { "allele": "CTT", "end": 1335, "referenceAllele": "GTG", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val371Leu", "hgvsWellDefined": "NP_001171479.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS015804" }, { "@id": "http://reg.genome.network/allele/PA2826133689", "coordinates": [ { "allele": "CTT", "end": 1335, "referenceAllele": "GTG", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val371Leu", "hgvsWellDefined": "NP_001171480.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS015805" }, { "coordinates": [ { "allele": "CTT", "end": 1480, "referenceAllele": "GTG", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529773.1:c.1162_1164delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528075.1:p.Val388Leu", "hgvsWellDefined": "XP_011528075.1:p.Val388Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096838" }, { "coordinates": [ { "allele": "CTT", "end": 1480, "referenceAllele": "GTG", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.1:c.1162_1164delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Val388Leu", "hgvsWellDefined": "XP_011528076.1:p.Val388Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096839" }, { "coordinates": [ { "allele": "CTT", "end": 1478, "referenceAllele": "GTG", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529775.1:c.1162_1164delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528077.1:p.Val388Leu", "hgvsWellDefined": "XP_011528077.1:p.Val388Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096840" }, { "coordinates": [ { "allele": "CTT", "end": 1478, "referenceAllele": "GTG", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529776.1:c.1162_1164delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528078.1:p.Val388Leu", "hgvsWellDefined": "XP_011528078.1:p.Val388Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096841" }, { "coordinates": [ { "allele": "CTT", "end": 1301, "referenceAllele": "GTG", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Val371Leu", "hgvsWellDefined": "XP_011528079.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096842" }, { "coordinates": [ { "allele": "CTT", "end": 1360, "referenceAllele": "GTG", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529778.1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528080.1:p.Val371Leu", "hgvsWellDefined": "XP_011528080.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096843" }, { "coordinates": [ { "allele": "CTT", "end": 1354, "referenceAllele": "GTG", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529779.1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528081.1:p.Val371Leu", "hgvsWellDefined": "XP_011528081.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096844" }, { "coordinates": [ { "allele": "CTT", "end": 1366, "referenceAllele": "GTG", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529781.1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528083.1:p.Val371Leu", "hgvsWellDefined": "XP_011528083.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096845" }, { "coordinates": [ { "allele": "CTT", "end": 1764, "referenceAllele": "GTG", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529782.1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528084.1:p.Val371Leu", "hgvsWellDefined": "XP_011528084.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096846" }, { "coordinates": [ { "allele": "CTT", "end": 1391, "referenceAllele": "GTG", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.1:c.796_798delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Val266Leu", "hgvsWellDefined": "XP_011528085.1:p.Val266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096847" }, { "coordinates": [ { "allele": "CTT", "end": 1391, "referenceAllele": "GTG", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529784.1:c.796_798delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528086.1:p.Val266Leu", "hgvsWellDefined": "XP_011528086.1:p.Val266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS096848" }, { "@id": "http://reg.genome.network/allele/PA2826133013", "coordinates": [ { "allele": "CTT", "end": 1365, "referenceAllele": "GTG", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.2:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val371Leu", "hgvsWellDefined": "NP_001171479.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511745" }, { "@id": "http://reg.genome.network/allele/PA2826133689", "coordinates": [ { "allele": "CTT", "end": 1365, "referenceAllele": "GTG", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.2:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val371Leu", "hgvsWellDefined": "NP_001171480.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511746" }, { "@id": "http://reg.genome.network/allele/PA2741863215", "coordinates": [ { "allele": "CTT", "end": 1359, "referenceAllele": "GTG", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.1:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Val371Leu", "hgvsWellDefined": "NP_001307227.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513529" }, { "@id": "http://reg.genome.network/allele/PA2827070603", "coordinates": [ { "allele": "CTT", "end": 1424, "referenceAllele": "GTG", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001321072.1:c.796_798delinsCTT" ], "proteinEffect": { "hgvs": "NP_001308001.1:p.Val266Leu", "hgvsWellDefined": "NP_001308001.1:p.Val266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS514014" }, { "coordinates": [ { "allele": "CTT", "end": 1484, "referenceAllele": "GTG", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.2:c.1162_1164delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Val388Leu", "hgvsWellDefined": "XP_011528076.1:p.Val388Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS549665" }, { "coordinates": [ { "allele": "CTT", "end": 1263, "referenceAllele": "GTG", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.2:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Val371Leu", "hgvsWellDefined": "XP_011528079.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS549666" }, { "coordinates": [ { "allele": "CTT", "end": 1396, "referenceAllele": "GTG", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.2:c.796_798delinsCTT" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Val266Leu", "hgvsWellDefined": "XP_011528085.1:p.Val266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS549667" }, { "coordinates": [ { "allele": "CTT", "end": 1263, "referenceAllele": "GTG", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_017028491.2:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "XP_016883980.1:p.Val371Leu", "hgvsWellDefined": "XP_016883980.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS578228" }, { "coordinates": [ { "allele": "CTT", "end": 2047, "referenceAllele": "GTG", "start": 2044 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452136.1:c.1162_1164delinsCTT" ], "proteinEffect": { "hgvs": "XP_024307904.1:p.Val388Leu", "hgvsWellDefined": "XP_024307904.1:p.Val388Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585638" }, { "coordinates": [ { "allele": "CTT", "end": 2047, "referenceAllele": "GTG", "start": 2044 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452137.1:c.1162_1164delinsCTT" ], "proteinEffect": { "hgvs": "XP_024307905.1:p.Val388Leu", "hgvsWellDefined": "XP_024307905.1:p.Val388Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585639" }, { "coordinates": [ { "allele": "CTT", "end": 2091, "referenceAllele": "GTG", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452138.1:c.796_798delinsCTT" ], "proteinEffect": { "hgvs": "XP_024307906.1:p.Val266Leu", "hgvsWellDefined": "XP_024307906.1:p.Val266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585640" }, { "coordinates": [ { "allele": "CTT", "end": 2085, "referenceAllele": "GTG", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452139.1:c.796_798delinsCTT" ], "proteinEffect": { "hgvs": "XP_024307907.1:p.Val266Leu", "hgvsWellDefined": "XP_024307907.1:p.Val266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585641" }, { "coordinates": [ { "allele": "CTT", "end": 1988, "referenceAllele": "GTG", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452140.1:c.796_798delinsCTT" ], "proteinEffect": { "hgvs": "XP_024307908.1:p.Val266Leu", "hgvsWellDefined": "XP_024307908.1:p.Val266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585642" }, { "coordinates": [ { "allele": "CTT", "end": 1484, "referenceAllele": "GTG", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754915.1:n.1482_1484delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS600857" }, { "coordinates": [ { "allele": "CTT", "end": 1263, "referenceAllele": "GTG", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754916.2:n.1261_1263delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS600858" }, { "coordinates": [ { "allele": "CTT", "end": 1263, "referenceAllele": "GTG", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754917.2:n.1261_1263delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS600859" }, { "coordinates": [ { "allele": "CTT", "end": 2084, "referenceAllele": "GTG", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_002958634.1:n.2082_2084delinsCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS604759" }, { "@id": "http://reg.genome.network/allele/PA2579799934", "coordinates": [ { "allele": "CTT", "end": 1263, "referenceAllele": "GTG", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.3:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Val371Leu", "hgvsWellDefined": "NP_000062.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.1111_1113delinsCTT" }, "RefSeq": { "hgvs": "NM_000071.3:c.1111_1113delinsCTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Val371Leu" }, "RefSeq": { "hgvs": "NP_000062.1:p.Val371Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2826133689", "coordinates": [ { "allele": "CTT", "end": 1350, "referenceAllele": "GTG", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val371Leu", "hgvsWellDefined": "NP_001171480.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826133013", "coordinates": [ { "allele": "CTT", "end": 1350, "referenceAllele": "GTG", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val371Leu", "hgvsWellDefined": "NP_001171479.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA2741863215", "coordinates": [ { "allele": "CTT", "end": 1371, "referenceAllele": "GTG", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.1111_1113delinsCTT" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Val371Leu", "hgvsWellDefined": "NP_001307227.1:p.Val371Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }