Canonical Allele Identifier: CA005244
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48818
dbSNP Id: rs118203564

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132905869_132905870del , CM000671.2:g.132905869_132905870del GRCh38
NC_000009.11:g.135781256_135781257del , CM000671.1:g.135781256_135781257del GRCh37
NC_000009.10:g.134771077_134771078del NCBI36
NG_012386.1:g.43764_43765del , LRG_486:g.43764_43765del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1705_1706del ENSP00000496126.2:p.Arg569GlyfsTer17
ENST00000490179.4:c.1708_1709del ENSP00000495533.2:p.Arg570GlyfsTer17
ENST00000642261.2:c.1708_1709del ENSP00000494743.2:p.Arg570GlyfsTer17
ENST00000643275.2:c.1708_1709del ENSP00000495598.2:p.Arg570GlyfsTer17
ENST00000643362.2:c.1321_1322del ENSP00000496398.2:p.Arg441GlyfsTer17
ENST00000643625.2:c.1708_1709del ENSP00000495546.2:p.Arg570GlyfsTer17
ENST00000643691.2:c.1345_1346del ENSP00000494916.2:p.Arg449GlyfsTer17
ENST00000644184.2:c.1708_1709del ENSP00000495428.2:p.Arg570GlyfsTer17
ENST00000645129.2:c.1552_1553del ENSP00000493639.2:p.Arg518GlyfsTer17
ENST00000646440.2:c.1708_1709del ENSP00000495830.2:p.Arg570GlyfsTer17
ENST00000298552.9:c.1708_1709del MANE Select ENSP00000298552.3:p.Arg570GlyfsTer17
ENST00000642617.1:c.1705_1706del ENSP00000493773.1:p.Arg569GlyfsTer17
ENST00000642627.1:c.1705_1706del ENSP00000496772.1:p.Arg569GlyfsTer17
ENST00000642811.1:c.*1478_*1479del ENSP00000495554.1:n.*1478_*1479del
ENST00000643072.1:c.1555_1556del ENSP00000496691.1:p.Arg519GlyfsTer17
ENST00000643275.1:c.226_227del ENSP00000495598.1:p.Arg76GlyfsTer17
ENST00000643583.1:c.1708_1709del ENSP00000494685.1:p.Arg570GlyfsTer17
ENST00000643875.1:c.1708_1709del ENSP00000495158.1:p.Arg570GlyfsTer17
ENST00000644097.1:c.1705_1706del ENSP00000494682.1:p.Arg569GlyfsTer17
ENST00000644184.1:c.445_446del ENSP00000495428.1:p.Arg149GlyfsTer17
ENST00000644255.1:c.*1475_*1476del ENSP00000493608.1:n.*1475_*1476del
ENST00000644319.1:n.2083_2084del
ENST00000644882.1:n.663_664del
ENST00000645901.1:n.2559_2560del
ENST00000646391.1:c.*1478_*1479del ENSP00000494104.1:n.*1478_*1479del
ENST00000646625.1:c.1708_1709del ENSP00000496263.1:p.Arg570GlyfsTer17
ENST00000647262.1:n.673_674del
ENST00000647279.1:c.*947_*948del ENSP00000494502.1:n.*947_*948del
ENST00000647506.1:n.2584_2585del
ENST00000647534.1:n.772_773del
ENST00000298552.7:c.1708_1709del ENSP00000298552.3:p.Arg570GlyfsTer17
ENST00000440111.6:c.1708_1709del ENSP00000394524.2:p.Arg570GlyfsTer17
ENST00000545250.5:c.1555_1556del ENSP00000444017.1:p.Arg519GlyfsTer17
NM_000368.4:c.1708_1709del , LRG_486t1:c.1708_1709del NP_000359.1:p.Arg570GlyfsTer17
NM_001162426.1:c.1705_1706del NP_001155898.1:p.Arg569GlyfsTer17
NM_001162427.1:c.1555_1556del NP_001155899.1:p.Arg519GlyfsTer17
XM_005272211.1:c.1708_1709del XP_005272268.1:p.Arg570GlyfsTer17
XM_006717271.1:c.1708_1709del XP_006717334.1:p.Arg570GlyfsTer17
XM_006717272.2:c.1708_1709del XP_006717335.1:p.Arg570GlyfsTer17
XM_011518979.1:c.1708_1709del XP_011517281.1:p.Arg570GlyfsTer17
NM_001362177.1:c.1345_1346del NP_001349106.1:p.Arg449GlyfsTer17
XM_011518979.2:c.1708_1709del XP_011517281.1:p.Arg570GlyfsTer17
XM_017015096.1:c.1708_1709del XP_016870585.1:p.Arg570GlyfsTer17
XM_017015097.1:c.1708_1709del XP_016870586.1:p.Arg570GlyfsTer17
XM_017015098.1:c.1705_1706del XP_016870587.1:p.Arg569GlyfsTer17
XM_017015100.1:c.1345_1346del XP_016870589.1:p.Arg449GlyfsTer17
XM_017015101.1:c.1342_1343del XP_016870590.1:p.Arg448GlyfsTer17
NM_000368.5:c.1708_1709del MANE Select NP_000359.1:p.Arg570GlyfsTer17
NM_001162426.2:c.1705_1706del NP_001155898.1:p.Arg569GlyfsTer17
NM_001162427.2:c.1555_1556del NP_001155899.1:p.Arg519GlyfsTer17
NM_001362177.2:c.1345_1346del NP_001349106.1:p.Arg449GlyfsTer17