Canonical Allele Identifier: CA004999
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237701
dbSNP Id: rs118203544

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132906048_132906049del , CM000671.2:g.132906048_132906049del GRCh38
NC_000009.11:g.135781435_135781436del , CM000671.1:g.135781435_135781436del GRCh37
NC_000009.10:g.134771256_134771257del NCBI36
NG_012386.1:g.43586_43587del , LRG_486:g.43586_43587del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1527_1528del ENSP00000496126.2:p.Asp509GlufsTer24
ENST00000490179.4:c.1530_1531del ENSP00000495533.2:p.Asp510GlufsTer24
ENST00000642261.2:c.1530_1531del ENSP00000494743.2:p.Asp510GlufsTer24
ENST00000643275.2:c.1530_1531del ENSP00000495598.2:p.Asp510GlufsTer24
ENST00000643362.2:c.1143_1144del ENSP00000496398.2:p.Asp381GlufsTer24
ENST00000643625.2:c.1530_1531del ENSP00000495546.2:p.Asp510GlufsTer24
ENST00000643691.2:c.1167_1168del ENSP00000494916.2:p.Asp389GlufsTer24
ENST00000644184.2:c.1530_1531del ENSP00000495428.2:p.Asp510GlufsTer24
ENST00000645129.2:c.1374_1375del ENSP00000493639.2:p.Asp458GlufsTer24
ENST00000646440.2:c.1530_1531del ENSP00000495830.2:p.Asp510GlufsTer24
ENST00000298552.9:c.1530_1531del MANE Select ENSP00000298552.3:p.Asp510GlufsTer24
ENST00000642617.1:c.1527_1528del ENSP00000493773.1:p.Asp509GlufsTer24
ENST00000642627.1:c.1527_1528del ENSP00000496772.1:p.Asp509GlufsTer24
ENST00000642811.1:c.*1300_*1301del ENSP00000495554.1:n.*1300_*1301del
ENST00000643072.1:c.1377_1378del ENSP00000496691.1:p.Asp459GlufsTer24
ENST00000643275.1:c.48_49del ENSP00000495598.1:p.Asp16GlufsTer24
ENST00000643583.1:c.1530_1531del ENSP00000494685.1:p.Asp510GlufsTer24
ENST00000643875.1:c.1530_1531del ENSP00000495158.1:p.Asp510GlufsTer24
ENST00000644097.1:c.1527_1528del ENSP00000494682.1:p.Asp509GlufsTer24
ENST00000644184.1:c.267_268del ENSP00000495428.1:p.Asp89GlufsTer24
ENST00000644255.1:c.*1297_*1298del ENSP00000493608.1:n.*1297_*1298del
ENST00000644319.1:n.1905_1906del
ENST00000644882.1:n.485_486del
ENST00000645901.1:n.2381_2382del
ENST00000646391.1:c.*1300_*1301del ENSP00000494104.1:n.*1300_*1301del
ENST00000646625.1:c.1530_1531del ENSP00000496263.1:p.Asp510GlufsTer24
ENST00000647262.1:n.495_496del
ENST00000647279.1:c.*769_*770del ENSP00000494502.1:n.*769_*770del
ENST00000647506.1:n.2406_2407del
ENST00000647534.1:n.594_595del
ENST00000298552.7:c.1530_1531del ENSP00000298552.3:p.Asp510GlufsTer24
ENST00000440111.6:c.1530_1531del ENSP00000394524.2:p.Asp510GlufsTer24
ENST00000545250.5:c.1377_1378del ENSP00000444017.1:p.Asp459GlufsTer24
NM_000368.4:c.1530_1531del , LRG_486t1:c.1530_1531del NP_000359.1:p.Asp510GlufsTer24
NM_001162426.1:c.1527_1528del NP_001155898.1:p.Asp509GlufsTer24
NM_001162427.1:c.1377_1378del NP_001155899.1:p.Asp459GlufsTer24
XM_005272211.1:c.1530_1531del XP_005272268.1:p.Asp510GlufsTer24
XM_006717271.1:c.1530_1531del XP_006717334.1:p.Asp510GlufsTer24
XM_006717272.2:c.1530_1531del XP_006717335.1:p.Asp510GlufsTer24
XM_011518979.1:c.1530_1531del XP_011517281.1:p.Asp510GlufsTer24
NM_001362177.1:c.1167_1168del NP_001349106.1:p.Asp389GlufsTer24
XM_011518979.2:c.1530_1531del XP_011517281.1:p.Asp510GlufsTer24
XM_017015096.1:c.1530_1531del XP_016870585.1:p.Asp510GlufsTer24
XM_017015097.1:c.1530_1531del XP_016870586.1:p.Asp510GlufsTer24
XM_017015098.1:c.1527_1528del XP_016870587.1:p.Asp509GlufsTer24
XM_017015100.1:c.1167_1168del XP_016870589.1:p.Asp389GlufsTer24
XM_017015101.1:c.1164_1165del XP_016870590.1:p.Asp388GlufsTer24
NM_000368.5:c.1530_1531del MANE Select NP_000359.1:p.Asp510GlufsTer24
NM_001162426.2:c.1527_1528del NP_001155898.1:p.Asp509GlufsTer24
NM_001162427.2:c.1377_1378del NP_001155899.1:p.Asp459GlufsTer24
NM_001362177.2:c.1167_1168del NP_001349106.1:p.Asp389GlufsTer24