{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA020622", "communityStandardTitle": [ "NM_000548.5(TSC2):c.4537del (p.Glu1513SerfsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58667[alleleid]", "alleleId": 58667, "preferredName": "NM_000548.5(TSC2):c.4537del (p.Glu1513fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49505", "RCV": [ "RCV000042765", "RCV000491824" ], "variationId": 49505 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2134995del?assembly=hg19", "id": "chr16:g.2134995del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2084994del?assembly=hg38", "id": "chr16:g.2084994del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137854028", "rs": 137854028 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2084994, "referenceAllele": "G", "start": 2084993 } ], "hgvs": [ "NC_000016.10:g.2084994del", "CM000678.2:g.2084994del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2134995, "referenceAllele": "G", "start": 2134994 } ], "hgvs": [ "NC_000016.9:g.2134995del", "CM000678.1:g.2134995del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2074996, "referenceAllele": "G", "start": 2074995 } ], "hgvs": [ "NC_000016.8:g.2074996del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "", "end": 40689, "referenceAllele": "G", "start": 40688 } ], "hgvs": [ "NG_005895.1:g.40689del", "LRG_487:g.40689del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 4368, "referenceAllele": "G", "start": 4367 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*2886del" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*2886del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "", "end": 4500, "referenceAllele": "G", "start": 4499 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.4384del" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Glu1462SerfsTer?", "hgvsWellDefined": "ENSP00000495146.2:p.[Glu1462_Leu1469delinsSerGlnThrSerGlnSerCysCys;Asn1471_Glu1472delinsMet;Gln1474His;Phe1476_Arg1478delinsProLeu;Val1480_Pro1487delinsGlyArgCysSerSerSerThrArg;Tyr1489_Asp1490delinsHisHis;Thr1491_His1492insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "", "end": 4605, "referenceAllele": "G", "start": 4604 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.4534del" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Glu1512SerfsTer?", "hgvsWellDefined": "ENSP00000495459.2:p.[Glu1512_Leu1519delinsSerGlnThrSerGlnSerCysCys;Asn1521_Glu1522delinsMet;Gln1524His;Phe1526_Arg1528delinsProLeu;Val1530_Pro1537delinsGlyArgCysSerSerSerThrArg;Tyr1539_Asp1540delinsHisHis;Thr1541_His1542insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "", "end": 5572, "referenceAllele": "G", "start": 5571 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*4917del" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*4917del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "", "end": 7624, "referenceAllele": "G", "start": 7623 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*7286del" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*7286del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "", "end": 4647, "referenceAllele": "G", "start": 4646 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.4537del" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Glu1513SerfsTer?", "hgvsWellDefined": "ENSP00000219476.3:p.[Glu1513_Leu1520delinsSerGlnThrSerGlnSerCysCys;Asn1522_Glu1523delinsMet;Gln1525His;Phe1527_Arg1529delinsProLeu;Val1531_Pro1538delinsGlyArgCysSerSerSerThrArg;Tyr1540_Asp1541delinsHisHis;Thr1542_His1543insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4537del" }, "RefSeq": { "hgvs": "NM_000548.5:c.4537del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Glu1513SerfsTer?" }, "RefSeq": { "hgvs": "NP_000539.2:p.Glu1513SerfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 4543, "referenceAllele": "G", "start": 4542 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.4468del" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Glu1490SerfsTer?", "hgvsWellDefined": "ENSP00000344383.4:p.[Glu1490_Leu1497delinsSerGlnThrSerGlnSerCysCys;Asn1499_Glu1500delinsMet;Gln1502His;Phe1504_Arg1506delinsProLeu;Val1508_Pro1515delinsGlyArgCysSerSerSerThrArg;Tyr1517_Asp1518delinsHisHis;Thr1519_His1520insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "", "end": 4442, "referenceAllele": "G", "start": 4441 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.4336del" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Glu1446SerfsTer?", "hgvsWellDefined": "ENSP00000384468.2:p.[Glu1446_Leu1453delinsSerGlnThrSerGlnSerCysCys;Asn1455_Glu1456delinsMet;Gln1458His;Phe1460_Arg1462delinsProLeu;Val1464_Pro1471delinsGlyArgCysSerSerSerThrArg;Tyr1473_Asp1474delinsHisHis;Thr1475_His1476insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "", "end": 4437, "referenceAllele": "G", "start": 4436 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.4369del" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Glu1457SerfsTer?", "hgvsWellDefined": "ENSP00000454487.1:p.[Glu1457_Leu1464delinsSerGlnThrSerGlnSerCysCys;Asn1466_Glu1467delinsMet;Gln1469His;Phe1471_Arg1473delinsProLeu;Val1475_Pro1482delinsGlyArgCysSerSerSerThrArg;Tyr1484_Asp1485delinsHisHis;Thr1486_His1487insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.2:c.760del" ], "referenceSequence": "http://reg.genome.network/refseq/RS760583" }, { "coordinates": [ { "allele": "", "end": 2419, "referenceAllele": "G", "start": 2418 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.2:n.2419del" ], "referenceSequence": "http://reg.genome.network/refseq/RS760618" }, { "coordinates": [ { "allele": "", "end": 3191, "referenceAllele": "G", "start": 3190 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.3191del" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "", "end": 4460, "referenceAllele": "G", "start": 4459 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.4408del" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Glu1470SerfsTer?", "hgvsWellDefined": "ENSP00000495099.1:p.[Glu1470_Leu1477delinsSerGlnThrSerGlnSerCysCys;Asn1479_Glu1480delinsMet;Gln1482His;Phe1484_Arg1486delinsProLeu;Val1488_Pro1495delinsGlyArgCysSerSerSerThrArg;Tyr1497_Asp1498delinsHisHis;Thr1499_His1500insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642728.1:n.719del" ], "referenceSequence": "http://reg.genome.network/refseq/RS766898" }, { "coordinates": [ { "allele": "", "end": 4393, "referenceAllele": "G", "start": 4392 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.4339del" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Glu1447SerfsTer?", "hgvsWellDefined": "ENSP00000493846.1:p.[Glu1447_Leu1454delinsSerGlnThrSerGlnSerCysCys;Asn1456_Glu1457delinsMet;Gln1459His;Phe1461_Arg1463delinsProLeu;Val1465_Pro1472delinsGlyArgCysSerSerSerThrArg;Tyr1474_Asp1475delinsHisHis;Thr1476_His1477insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "", "end": 4514, "referenceAllele": "G", "start": 4513 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.4405del" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Glu1469SerfsTer?", "hgvsWellDefined": "ENSP00000494514.1:p.[Glu1469_Leu1476delinsSerGlnThrSerGlnSerCysCys;Asn1478_Glu1479delinsMet;Gln1481His;Phe1483_Arg1485delinsProLeu;Val1487_Pro1494delinsGlyArgCysSerSerSerThrArg;Tyr1496_Asp1497delinsHisHis;Thr1498_His1499insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "", "end": 4454, "referenceAllele": "G", "start": 4453 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.4336del" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Glu1446SerfsTer?", "hgvsWellDefined": "ENSP00000494747.1:p.[Glu1446_Leu1453delinsSerGlnThrSerGlnSerCysCys;Asn1455_Glu1456delinsMet;Phe1458_Arg1460delinsProLeu;Val1462_Pro1469delinsGlyArgCysSerSerSerThrArg;Tyr1471_Asp1472delinsHisHis;His1474_Lys1475delinsThrProThrArg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "", "end": 551, "referenceAllele": "G", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643177.1:n.551del" ], "referenceSequence": "http://reg.genome.network/refseq/RS767136" }, { "coordinates": [ { "allele": "", "end": 2185, "referenceAllele": "G", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643426.1:n.2185del" ], "referenceSequence": "http://reg.genome.network/refseq/RS767277" }, { "coordinates": [ { "allele": "", "end": 4586, "referenceAllele": "G", "start": 4585 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.4468del" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Glu1490SerfsTer?", "hgvsWellDefined": "ENSP00000495927.1:p.[Glu1490_Leu1497delinsSerGlnThrSerGlnSerCysCys;Asn1499_Glu1500delinsMet;Phe1502_Arg1504delinsProLeu;Val1506_Pro1513delinsGlyArgCysSerSerSerThrArg;Tyr1515_Asp1516delinsHisHis;His1518_Lys1519delinsThrProThrArg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "", "end": 4462, "referenceAllele": "G", "start": 4461 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.4408del" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Glu1470SerfsTer?", "hgvsWellDefined": "ENSP00000496262.1:p.[Glu1470_Leu1477delinsSerGlnThrSerGlnSerCysCys;Asn1479_Glu1480delinsMet;Gln1482His;Phe1484_Arg1486delinsProLeu;Val1488_Pro1495delinsGlyArgCysSerSerSerThrArg;Tyr1497_Asp1498delinsHisHis;Thr1499_His1500insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.4336del" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Glu1446SerfsTer?", "hgvsWellDefined": "ENSP00000496611.1:p.[Glu1446_Leu1453delinsSerGlnThrSerGlnSerCysCys;Asn1455_Glu1456delinsMet;Gln1458His;Phe1460_Arg1462delinsProLeu;Val1464_Pro1471delinsGlyArgCysSerSerSerThrArg;Tyr1473_Asp1474delinsHisHis;Thr1475_His1476insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "", "end": 4439, "referenceAllele": "G", "start": 4438 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.4339del" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Glu1447SerfsTer?", "hgvsWellDefined": "ENSP00000496317.1:p.[Glu1447_Leu1454delinsSerGlnThrSerGlnSerCysCys;Asn1456_Glu1457delinsMet;Phe1459_Arg1461delinsProLeu;Val1463_Pro1470delinsGlyArgCysSerSerSerThrArg;Tyr1472_Asp1473delinsHisHis;His1475_Lys1476delinsThrProThrArg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "", "end": 4458, "referenceAllele": "G", "start": 4457 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.4458del" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "", "end": 2621, "referenceAllele": "G", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.2621del" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "", "end": 4623, "referenceAllele": "G", "start": 4622 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.4537del" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Glu1513SerfsTer?", "hgvsWellDefined": "ENSP00000495921.1:p.[Glu1513_Leu1520delinsSerGlnThrSerGlnSerCysCys;Asn1522_Glu1523delinsMet;Phe1525_Arg1527delinsProLeu;Val1529_Pro1536delinsGlyArgCysSerSerSerThrArg;Tyr1538_Asp1539delinsHisHis;His1541_Lys1542delinsThrProThrArg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "", "end": 3352, "referenceAllele": "G", "start": 3351 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.3352del" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "", "end": 1789, "referenceAllele": "G", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646674.1:n.1789del" ], "referenceSequence": "http://reg.genome.network/refseq/RS769003" }, { "coordinates": [ { "allele": "", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647042.1:n.1760del" ], "referenceSequence": "http://reg.genome.network/refseq/RS769203" }, { "coordinates": [ { "allele": "", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647180.1:n.1650del" ], "referenceSequence": "http://reg.genome.network/refseq/RS769277" }, { "coordinates": [ { "allele": "", "end": 5167, "referenceAllele": "G", "start": 5166 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.4537del" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Glu1513SerfsTer?", "hgvsWellDefined": "ENSP00000219476.3:p.[Glu1513_Leu1520delinsSerGlnThrSerGlnSerCysCys;Asn1522_Glu1523delinsMet;Gln1525His;Phe1527_Arg1529delinsProLeu;Val1531_Pro1538delinsGlyArgCysSerSerSerThrArg;Tyr1540_Asp1541delinsHisHis;Thr1542_His1543insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "", "end": 4543, "referenceAllele": "G", "start": 4542 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.4468del" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Glu1490SerfsTer?", "hgvsWellDefined": "ENSP00000344383.4:p.[Glu1490_Leu1497delinsSerGlnThrSerGlnSerCysCys;Asn1499_Glu1500delinsMet;Gln1502His;Phe1504_Arg1506delinsProLeu;Val1508_Pro1515delinsGlyArgCysSerSerSerThrArg;Tyr1517_Asp1518delinsHisHis;Thr1519_His1520insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "", "end": 4287, "referenceAllele": "G", "start": 4286 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.4192del" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Glu1398SerfsTer?", "hgvsWellDefined": "ENSP00000371978.6:p.[Glu1398_Leu1405delinsSerGlnThrSerGlnSerCysCys;Asn1407_Glu1408delinsMet;Gln1410His;Phe1412_Arg1414delinsProLeu;Val1416_Pro1423delinsGlyArgCysSerSerSerThrArg;Tyr1425_Asp1426delinsHisHis;Thr1427_His1428insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "", "end": 4442, "referenceAllele": "G", "start": 4441 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.4336del" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Glu1446SerfsTer?", "hgvsWellDefined": "ENSP00000384468.2:p.[Glu1446_Leu1453delinsSerGlnThrSerGlnSerCysCys;Asn1455_Glu1456delinsMet;Gln1458His;Phe1460_Arg1462delinsProLeu;Val1464_Pro1471delinsGlyArgCysSerSerSerThrArg;Tyr1473_Asp1474delinsHisHis;Thr1475_His1476insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "", "end": 4093, "referenceAllele": "G", "start": 4092 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*3704del" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*3704del" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "", "end": 4309, "referenceAllele": "G", "start": 4308 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.4228del" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Glu1410SerfsTer?", "hgvsWellDefined": "ENSP00000399232.2:p.[Glu1410_Leu1417delinsSerGlnThrSerGlnSerCysCys;Asn1419_Glu1420delinsMet;Gln1422His;Phe1424_Arg1426delinsProLeu;Val1428_Pro1435delinsGlyArgCysSerSerSerThrArg;Tyr1437_Asp1438delinsHisHis;Thr1439_His1440insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "", "end": 2295, "referenceAllele": "G", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000497886.5:n.2295del" ], "referenceSequence": "http://reg.genome.network/refseq/RS334013" }, { "coordinates": [ { "allele": "", "end": 4437, "referenceAllele": "G", "start": 4436 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.4369del" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Glu1457SerfsTer?", "hgvsWellDefined": "ENSP00000454487.1:p.[Glu1457_Leu1464delinsSerGlnThrSerGlnSerCysCys;Asn1466_Glu1467delinsMet;Gln1469His;Phe1471_Arg1473delinsProLeu;Val1475_Pro1482delinsGlyArgCysSerSerSerThrArg;Tyr1484_Asp1485delinsHisHis;Thr1486_His1487insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.1:c.719del" ], "referenceSequence": "http://reg.genome.network/refseq/RS246736" }, { "coordinates": [ { "allele": "", "end": 1652, "referenceAllele": "G", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.1:n.1652del" ], "referenceSequence": "http://reg.genome.network/refseq/RS381794" }, { "coordinates": [ { "allele": "", "end": 4643, "referenceAllele": "G", "start": 4642 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.4537del", "LRG_487t1:c.4537del" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Glu1513SerfsTer?", "hgvsWellDefined": "NP_000539.2:p.[Glu1513_Leu1520delinsSerGlnThrSerGlnSerCysCys;Asn1522_Glu1523delinsMet;Gln1525His;Phe1527_Arg1529delinsProLeu;Val1531_Pro1538delinsGlyArgCysSerSerSerThrArg;Tyr1540_Asp1541delinsHisHis;Thr1542_His1543insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "coordinates": [ { "allele": "", "end": 4442, "referenceAllele": "G", "start": 4441 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.4336del" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Glu1446SerfsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Glu1446_Leu1453delinsSerGlnThrSerGlnSerCysCys;Asn1455_Glu1456delinsMet;Gln1458His;Phe1460_Arg1462delinsProLeu;Val1464_Pro1471delinsGlyArgCysSerSerSerThrArg;Tyr1473_Asp1474delinsHisHis;Thr1475_His1476insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "coordinates": [ { "allele": "", "end": 4574, "referenceAllele": "G", "start": 4573 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.4468del" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Glu1490SerfsTer?", "hgvsWellDefined": "NP_001107854.1:p.[Glu1490_Leu1497delinsSerGlnThrSerGlnSerCysCys;Asn1499_Glu1500delinsMet;Gln1502His;Phe1504_Arg1506delinsProLeu;Val1508_Pro1515delinsGlyArgCysSerSerSerThrArg;Tyr1517_Asp1518delinsHisHis;Thr1519_His1520insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "", "end": 4495, "referenceAllele": "G", "start": 4494 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.4408del" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Glu1470SerfsTer?", "hgvsWellDefined": "XP_005255586.2:p.[Glu1470_Leu1477delinsSerGlnThrSerGlnSerCysCys;Asn1479_Glu1480delinsMet;Gln1482His;Phe1484_Arg1486delinsProLeu;Val1488_Pro1495delinsGlyArgCysSerSerSerThrArg;Tyr1497_Asp1498delinsHisHis;Thr1499_His1500insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "", "end": 4426, "referenceAllele": "G", "start": 4425 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.4339del" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Glu1447SerfsTer?", "hgvsWellDefined": "XP_005255588.2:p.[Glu1447_Leu1454delinsSerGlnThrSerGlnSerCysCys;Asn1456_Glu1457delinsMet;Gln1459His;Phe1461_Arg1463delinsProLeu;Val1465_Pro1472delinsGlyArgCysSerSerSerThrArg;Tyr1474_Asp1475delinsHisHis;Thr1476_His1477insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "", "end": 4678, "referenceAllele": "G", "start": 4677 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.4591del" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Glu1531SerfsTer?", "hgvsWellDefined": "XP_011520938.1:p.[Glu1531_Leu1538delinsSerGlnThrSerGlnSerCysCys;Asn1540_Glu1541delinsMet;Gln1543His;Phe1545_Arg1547delinsProLeu;Val1549_Pro1556delinsGlyArgCysSerSerSerThrArg;Tyr1558_Asp1559delinsHisHis;Thr1560_His1561insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "", "end": 4675, "referenceAllele": "G", "start": 4674 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.4588del" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Glu1530SerfsTer?", "hgvsWellDefined": "XP_011520939.1:p.[Glu1530_Leu1537delinsSerGlnThrSerGlnSerCysCys;Asn1539_Glu1540delinsMet;Gln1542His;Phe1544_Arg1546delinsProLeu;Val1548_Pro1555delinsGlyArgCysSerSerSerThrArg;Tyr1557_Asp1558delinsHisHis;Thr1559_His1560insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "", "end": 4639, "referenceAllele": "G", "start": 4638 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.4480del" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Glu1494SerfsTer?", "hgvsWellDefined": "XP_011520940.1:p.[Glu1494_Leu1501delinsSerGlnThrSerGlnSerCysCys;Asn1503_Glu1504delinsMet;Gln1506His;Phe1508_Arg1510delinsProLeu;Val1512_Pro1519delinsGlyArgCysSerSerSerThrArg;Tyr1521_Asp1522delinsHisHis;Thr1523_His1524insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "", "end": 4549, "referenceAllele": "G", "start": 4548 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.4462del" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Glu1488SerfsTer?", "hgvsWellDefined": "XP_011520941.1:p.[Glu1488_Leu1495delinsSerGlnThrSerGlnSerCysCys;Asn1497_Glu1498delinsMet;Gln1500His;Phe1502_Arg1504delinsProLeu;Val1506_Pro1513delinsGlyArgCysSerSerSerThrArg;Tyr1515_Asp1516delinsHisHis;Thr1517_His1518insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "", "end": 4546, "referenceAllele": "G", "start": 4545 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.4459del" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Glu1487SerfsTer?", "hgvsWellDefined": "XP_011520942.1:p.[Glu1487_Leu1494delinsSerGlnThrSerGlnSerCysCys;Asn1496_Glu1497delinsMet;Gln1499His;Phe1501_Arg1503delinsProLeu;Val1505_Pro1512delinsGlyArgCysSerSerSerThrArg;Tyr1514_Asp1515delinsHisHis;Thr1516_His1517insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "", "end": 4387, "referenceAllele": "G", "start": 4386 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.4228del" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Glu1410SerfsTer?", "hgvsWellDefined": "XP_011520943.1:p.[Glu1410_Leu1417delinsSerGlnThrSerGlnSerCysCys;Asn1419_Glu1420delinsMet;Gln1422His;Phe1424_Arg1426delinsProLeu;Val1428_Pro1435delinsGlyArgCysSerSerSerThrArg;Tyr1437_Asp1438delinsHisHis;Thr1439_His1440insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "coordinates": [ { "allele": "", "end": 4737, "referenceAllele": "G", "start": 4736 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.4537del" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Glu1513SerfsTer?", "hgvsWellDefined": "NP_000539.2:p.[Glu1513_Leu1520delinsSerGlnThrSerGlnSerCysCys;Asn1522_Glu1523delinsMet;Gln1525His;Phe1527_Arg1529delinsProLeu;Val1531_Pro1538delinsGlyArgCysSerSerSerThrArg;Tyr1540_Asp1541delinsHisHis;Thr1542_His1543insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "coordinates": [ { "allele": "", "end": 4536, "referenceAllele": "G", "start": 4535 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.4336del" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Glu1446SerfsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Glu1446_Leu1453delinsSerGlnThrSerGlnSerCysCys;Asn1455_Glu1456delinsMet;Gln1458His;Phe1460_Arg1462delinsProLeu;Val1464_Pro1471delinsGlyArgCysSerSerSerThrArg;Tyr1473_Asp1474delinsHisHis;Thr1475_His1476insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "coordinates": [ { "allele": "", "end": 4668, "referenceAllele": "G", "start": 4667 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.4468del" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Glu1490SerfsTer?", "hgvsWellDefined": "NP_001107854.1:p.[Glu1490_Leu1497delinsSerGlnThrSerGlnSerCysCys;Asn1499_Glu1500delinsMet;Gln1502His;Phe1504_Arg1506delinsProLeu;Val1508_Pro1515delinsGlyArgCysSerSerSerThrArg;Tyr1517_Asp1518delinsHisHis;Thr1519_His1520insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "coordinates": [ { "allele": "", "end": 4428, "referenceAllele": "G", "start": 4427 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.4228del" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Glu1410SerfsTer?", "hgvsWellDefined": "NP_001305756.1:p.[Glu1410_Leu1417delinsSerGlnThrSerGlnSerCysCys;Asn1419_Glu1420delinsMet;Gln1422His;Phe1424_Arg1426delinsProLeu;Val1428_Pro1435delinsGlyArgCysSerSerSerThrArg;Tyr1437_Asp1438delinsHisHis;Thr1439_His1440insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "coordinates": [ { "allele": "", "end": 4372, "referenceAllele": "G", "start": 4371 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.4192del" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Glu1398SerfsTer?", "hgvsWellDefined": "NP_001305758.1:p.[Glu1398_Leu1405delinsSerGlnThrSerGlnSerCysCys;Asn1407_Glu1408delinsMet;Gln1410His;Phe1412_Arg1414delinsProLeu;Val1416_Pro1423delinsGlyArgCysSerSerSerThrArg;Tyr1425_Asp1426delinsHisHis;Thr1427_His1428insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "coordinates": [ { "allele": "", "end": 4231, "referenceAllele": "G", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.3805del" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Glu1269SerfsTer?", "hgvsWellDefined": "NP_001305760.1:p.[Glu1269_Leu1276delinsSerGlnThrSerGlnSerCysCys;Asn1278_Glu1279delinsMet;Gln1281His;Phe1283_Arg1285delinsProLeu;Val1287_Pro1294delinsGlyArgCysSerSerSerThrArg;Tyr1296_Asp1297delinsHisHis;Thr1298_His1299insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "coordinates": [ { "allele": "", "end": 4437, "referenceAllele": "G", "start": 4436 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.4369del" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Glu1457SerfsTer?", "hgvsWellDefined": "NP_001305761.1:p.[Glu1457_Leu1464delinsSerGlnThrSerGlnSerCysCys;Asn1466_Glu1467delinsMet;Gln1469His;Phe1471_Arg1473delinsProLeu;Val1475_Pro1482delinsGlyArgCysSerSerSerThrArg;Tyr1484_Asp1485delinsHisHis;Thr1486_His1487insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "coordinates": [ { "allele": "", "end": 4539, "referenceAllele": "G", "start": 4538 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.4339del" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Glu1447SerfsTer?", "hgvsWellDefined": "NP_001350457.1:p.[Glu1447_Leu1454delinsSerGlnThrSerGlnSerCysCys;Asn1456_Glu1457delinsMet;Gln1459His;Phe1461_Arg1463delinsProLeu;Val1465_Pro1472delinsGlyArgCysSerSerSerThrArg;Tyr1474_Asp1475delinsHisHis;Thr1476_His1477insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "coordinates": [ { "allele": "", "end": 4518, "referenceAllele": "G", "start": 4517 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.4408del" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Glu1470SerfsTer?", "hgvsWellDefined": "NP_066399.2:p.[Glu1470_Leu1477delinsSerGlnThrSerGlnSerCysCys;Asn1479_Glu1480delinsMet;Gln1482His;Phe1484_Arg1486delinsProLeu;Val1488_Pro1495delinsGlyArgCysSerSerSerThrArg;Tyr1497_Asp1498delinsHisHis;Thr1499_His1500insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "", "end": 4426, "referenceAllele": "G", "start": 4425 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.4339del" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Glu1447SerfsTer?", "hgvsWellDefined": "XP_005255588.2:p.[Glu1447_Leu1454delinsSerGlnThrSerGlnSerCysCys;Asn1456_Glu1457delinsMet;Gln1459His;Phe1461_Arg1463delinsProLeu;Val1465_Pro1472delinsGlyArgCysSerSerSerThrArg;Tyr1474_Asp1475delinsHisHis;Thr1476_His1477insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "", "end": 4678, "referenceAllele": "G", "start": 4677 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.4591del" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Glu1531SerfsTer?", "hgvsWellDefined": "XP_011520938.1:p.[Glu1531_Leu1538delinsSerGlnThrSerGlnSerCysCys;Asn1540_Glu1541delinsMet;Gln1543His;Phe1545_Arg1547delinsProLeu;Val1549_Pro1556delinsGlyArgCysSerSerSerThrArg;Tyr1558_Asp1559delinsHisHis;Thr1560_His1561insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "", "end": 4675, "referenceAllele": "G", "start": 4674 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.4588del" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Glu1530SerfsTer?", "hgvsWellDefined": "XP_011520939.1:p.[Glu1530_Leu1537delinsSerGlnThrSerGlnSerCysCys;Asn1539_Glu1540delinsMet;Gln1542His;Phe1544_Arg1546delinsProLeu;Val1548_Pro1555delinsGlyArgCysSerSerSerThrArg;Tyr1557_Asp1558delinsHisHis;Thr1559_His1560insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "", "end": 4771, "referenceAllele": "G", "start": 4770 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.4753del" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Glu1585SerfsTer?", "hgvsWellDefined": "XP_011520940.2:p.[Glu1585_Leu1592delinsSerGlnThrSerGlnSerCysCys;Asn1594_Glu1595delinsMet;Gln1597His;Phe1599_Arg1601delinsProLeu;Val1603_Pro1610delinsGlyArgCysSerSerSerThrArg;Tyr1612_Asp1613delinsHisHis;Thr1614_His1615insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "", "end": 4549, "referenceAllele": "G", "start": 4548 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.4462del" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Glu1488SerfsTer?", "hgvsWellDefined": "XP_011520941.1:p.[Glu1488_Leu1495delinsSerGlnThrSerGlnSerCysCys;Asn1497_Glu1498delinsMet;Gln1500His;Phe1502_Arg1504delinsProLeu;Val1506_Pro1513delinsGlyArgCysSerSerSerThrArg;Tyr1515_Asp1516delinsHisHis;Thr1517_His1518insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "", "end": 4546, "referenceAllele": "G", "start": 4545 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.4459del" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Glu1487SerfsTer?", "hgvsWellDefined": "XP_011520942.1:p.[Glu1487_Leu1494delinsSerGlnThrSerGlnSerCysCys;Asn1496_Glu1497delinsMet;Gln1499His;Phe1501_Arg1503delinsProLeu;Val1505_Pro1512delinsGlyArgCysSerSerSerThrArg;Tyr1514_Asp1515delinsHisHis;Thr1516_His1517insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "", "end": 4621, "referenceAllele": "G", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.4534del" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Glu1512SerfsTer?", "hgvsWellDefined": "XP_016879104.1:p.[Glu1512_Leu1519delinsSerGlnThrSerGlnSerCysCys;Asn1521_Glu1522delinsMet;Gln1524His;Phe1526_Arg1528delinsProLeu;Val1530_Pro1537delinsGlyArgCysSerSerSerThrArg;Tyr1539_Asp1540delinsHisHis;Thr1541_His1542insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "", "end": 4492, "referenceAllele": "G", "start": 4491 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.4405del" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Glu1469SerfsTer?", "hgvsWellDefined": "XP_016879105.1:p.[Glu1469_Leu1476delinsSerGlnThrSerGlnSerCysCys;Asn1478_Glu1479delinsMet;Gln1481His;Phe1483_Arg1485delinsProLeu;Val1487_Pro1494delinsGlyArgCysSerSerSerThrArg;Tyr1496_Asp1497delinsHisHis;Thr1498_His1499insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "", "end": 4519, "referenceAllele": "G", "start": 4518 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.4501del" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Glu1501SerfsTer?", "hgvsWellDefined": "XP_016879106.1:p.[Glu1501_Leu1508delinsSerGlnThrSerGlnSerCysCys;Asn1510_Glu1511delinsMet;Gln1513His;Phe1515_Arg1517delinsProLeu;Val1519_Pro1526delinsGlyArgCysSerSerSerThrArg;Tyr1528_Asp1529delinsHisHis;Thr1530_His1531insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "", "end": 4765, "referenceAllele": "G", "start": 4764 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.3247del" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Glu1083SerfsTer?", "hgvsWellDefined": "XP_016879107.1:p.[Glu1083_Leu1090delinsSerGlnThrSerGlnSerCysCys;Asn1092_Glu1093delinsMet;Gln1095His;Phe1097_Arg1099delinsProLeu;Val1101_Pro1108delinsGlyArgCysSerSerSerThrArg;Tyr1110_Asp1111delinsHisHis;Thr1112_His1113insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "", "end": 4423, "referenceAllele": "G", "start": 4422 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.4336del" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Glu1446SerfsTer?", "hgvsWellDefined": "XP_024306181.1:p.[Glu1446_Leu1453delinsSerGlnThrSerGlnSerCysCys;Asn1455_Glu1456delinsMet;Gln1458His;Phe1460_Arg1462delinsProLeu;Val1464_Pro1471delinsGlyArgCysSerSerSerThrArg;Tyr1473_Asp1474delinsHisHis;Thr1475_His1476insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "", "end": 4647, "referenceAllele": "G", "start": 4646 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.4537del" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Glu1513SerfsTer?", "hgvsWellDefined": "NP_000539.2:p.[Glu1513_Leu1520delinsSerGlnThrSerGlnSerCysCys;Asn1522_Glu1523delinsMet;Gln1525His;Phe1527_Arg1529delinsProLeu;Val1531_Pro1538delinsGlyArgCysSerSerSerThrArg;Tyr1540_Asp1541delinsHisHis;Thr1542_His1543insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4537del" }, "RefSeq": { "hgvs": "NM_000548.5:c.4537del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Glu1513SerfsTer?" }, "RefSeq": { "hgvs": "NP_000539.2:p.Glu1513SerfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 4515, "referenceAllele": "G", "start": 4514 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.4405del" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Glu1469SerfsTer?", "hgvsWellDefined": "NP_001357333.1:p.[Glu1469_Leu1476delinsSerGlnThrSerGlnSerCysCys;Asn1478_Glu1479delinsMet;Gln1481His;Phe1483_Arg1485delinsProLeu;Val1487_Pro1494delinsGlyArgCysSerSerSerThrArg;Tyr1496_Asp1497delinsHisHis;Thr1498_His1499insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "coordinates": [ { "allele": "", "end": 4518, "referenceAllele": "G", "start": 4517 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.4408del" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Glu1470SerfsTer?", "hgvsWellDefined": "NP_001357334.1:p.[Glu1470_Leu1477delinsSerGlnThrSerGlnSerCysCys;Asn1479_Glu1480delinsMet;Gln1482His;Phe1484_Arg1486delinsProLeu;Val1488_Pro1495delinsGlyArgCysSerSerSerThrArg;Tyr1497_Asp1498delinsHisHis;Thr1499_His1500insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "coordinates": [ { "allele": "", "end": 4446, "referenceAllele": "G", "start": 4445 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.4336del" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Glu1446SerfsTer?", "hgvsWellDefined": "NP_001070651.1:p.[Glu1446_Leu1453delinsSerGlnThrSerGlnSerCysCys;Asn1455_Glu1456delinsMet;Gln1458His;Phe1460_Arg1462delinsProLeu;Val1464_Pro1471delinsGlyArgCysSerSerSerThrArg;Tyr1473_Asp1474delinsHisHis;Thr1475_His1476insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "coordinates": [ { "allele": "", "end": 4578, "referenceAllele": "G", "start": 4577 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.4468del" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Glu1490SerfsTer?", "hgvsWellDefined": "NP_001107854.1:p.[Glu1490_Leu1497delinsSerGlnThrSerGlnSerCysCys;Asn1499_Glu1500delinsMet;Gln1502His;Phe1504_Arg1506delinsProLeu;Val1508_Pro1515delinsGlyArgCysSerSerSerThrArg;Tyr1517_Asp1518delinsHisHis;Thr1519_His1520insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "coordinates": [ { "allele": "", "end": 4338, "referenceAllele": "G", "start": 4337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.4228del" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Glu1410SerfsTer?", "hgvsWellDefined": "NP_001305756.1:p.[Glu1410_Leu1417delinsSerGlnThrSerGlnSerCysCys;Asn1419_Glu1420delinsMet;Gln1422His;Phe1424_Arg1426delinsProLeu;Val1428_Pro1435delinsGlyArgCysSerSerSerThrArg;Tyr1437_Asp1438delinsHisHis;Thr1439_His1440insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "coordinates": [ { "allele": "", "end": 4282, "referenceAllele": "G", "start": 4281 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.4192del" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Glu1398SerfsTer?", "hgvsWellDefined": "NP_001305758.1:p.[Glu1398_Leu1405delinsSerGlnThrSerGlnSerCysCys;Asn1407_Glu1408delinsMet;Gln1410His;Phe1412_Arg1414delinsProLeu;Val1416_Pro1423delinsGlyArgCysSerSerSerThrArg;Tyr1425_Asp1426delinsHisHis;Thr1427_His1428insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "coordinates": [ { "allele": "", "end": 4141, "referenceAllele": "G", "start": 4140 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3805del" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Glu1269SerfsTer?", "hgvsWellDefined": "NP_001305760.1:p.[Glu1269_Leu1276delinsSerGlnThrSerGlnSerCysCys;Asn1278_Glu1279delinsMet;Gln1281His;Phe1283_Arg1285delinsProLeu;Val1287_Pro1294delinsGlyArgCysSerSerSerThrArg;Tyr1296_Asp1297delinsHisHis;Thr1298_His1299insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "coordinates": [ { "allele": "", "end": 4437, "referenceAllele": "G", "start": 4436 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.4369del" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Glu1457SerfsTer?", "hgvsWellDefined": "NP_001305761.1:p.[Glu1457_Leu1464delinsSerGlnThrSerGlnSerCysCys;Asn1466_Glu1467delinsMet;Gln1469His;Phe1471_Arg1473delinsProLeu;Val1475_Pro1482delinsGlyArgCysSerSerSerThrArg;Tyr1484_Asp1485delinsHisHis;Thr1486_His1487insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "coordinates": [ { "allele": "", "end": 4449, "referenceAllele": "G", "start": 4448 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.4339del" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Glu1447SerfsTer?", "hgvsWellDefined": "NP_001350457.1:p.[Glu1447_Leu1454delinsSerGlnThrSerGlnSerCysCys;Asn1456_Glu1457delinsMet;Gln1459His;Phe1461_Arg1463delinsProLeu;Val1465_Pro1472delinsGlyArgCysSerSerSerThrArg;Tyr1474_Asp1475delinsHisHis;Thr1476_His1477insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "coordinates": [ { "allele": "", "end": 4518, "referenceAllele": "G", "start": 4517 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.4408del" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Glu1470SerfsTer?", "hgvsWellDefined": "NP_066399.2:p.[Glu1470_Leu1477delinsSerGlnThrSerGlnSerCysCys;Asn1479_Glu1480delinsMet;Gln1482His;Phe1484_Arg1486delinsProLeu;Val1488_Pro1495delinsGlyArgCysSerSerSerThrArg;Tyr1497_Asp1498delinsHisHis;Thr1499_His1500insThrPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }