Canonical Allele Identifier: CA16612461
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132906062del , CM000671.2:g.132906062del GRCh38
NC_000009.11:g.135781449del , CM000671.1:g.135781449del GRCh37
NC_000009.10:g.134771270del NCBI36
NG_012386.1:g.43574del , LRG_486:g.43574del

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.1515del ENSP00000496126.2:p.Tyr507ThrfsTer24
ENST00000490179.4:c.1518del ENSP00000495533.2:p.Tyr508ThrfsTer24
ENST00000642261.2:c.1518del ENSP00000494743.2:p.Tyr508ThrfsTer24
ENST00000643275.2:c.1518del ENSP00000495598.2:p.Tyr508ThrfsTer24
ENST00000643362.2:c.1131del ENSP00000496398.2:p.Tyr379ThrfsTer24
ENST00000643625.2:c.1518del ENSP00000495546.2:p.Tyr508ThrfsTer24
ENST00000643691.2:c.1155del ENSP00000494916.2:p.Tyr387ThrfsTer24
ENST00000644184.2:c.1518del ENSP00000495428.2:p.Tyr508ThrfsTer24
ENST00000645129.2:c.1362del ENSP00000493639.2:p.Tyr456ThrfsTer24
ENST00000646440.2:c.1518del ENSP00000495830.2:p.Tyr508ThrfsTer24
ENST00000298552.9:c.1518del MANE Select ENSP00000298552.3:p.Tyr508ThrfsTer24
ENST00000642617.1:c.1515del ENSP00000493773.1:p.Tyr507ThrfsTer24
ENST00000642627.1:c.1515del ENSP00000496772.1:p.Tyr507ThrfsTer24
ENST00000642811.1:c.*1288del ENSP00000495554.1:n.*1288del
ENST00000643072.1:c.1365del ENSP00000496691.1:p.Tyr457ThrfsTer24
ENST00000643275.1:c.36del ENSP00000495598.1:p.Tyr14ThrfsTer24
ENST00000643583.1:c.1518del ENSP00000494685.1:p.Tyr508ThrfsTer24
ENST00000643875.1:c.1518del ENSP00000495158.1:p.Tyr508ThrfsTer24
ENST00000644097.1:c.1515del ENSP00000494682.1:p.Tyr507ThrfsTer24
ENST00000644184.1:c.255del ENSP00000495428.1:p.Tyr87ThrfsTer24
ENST00000644255.1:c.*1285del ENSP00000493608.1:n.*1285del
ENST00000644319.1:n.1893del
ENST00000644882.1:n.473del
ENST00000645901.1:n.2369del
ENST00000646391.1:c.*1288del ENSP00000494104.1:n.*1288del
ENST00000646625.1:c.1518del ENSP00000496263.1:p.Tyr508ThrfsTer24
ENST00000647262.1:n.483del
ENST00000647279.1:c.*757del ENSP00000494502.1:n.*757del
ENST00000647506.1:n.2394del
ENST00000647534.1:n.582del
ENST00000298552.7:c.1518del ENSP00000298552.3:p.Tyr508ThrfsTer24
ENST00000440111.6:c.1518del ENSP00000394524.2:p.Tyr508ThrfsTer24
ENST00000545250.5:c.1365del ENSP00000444017.1:p.Tyr457ThrfsTer24
NM_000368.4:c.1518del , LRG_486t1:c.1518del NP_000359.1:p.Tyr508ThrfsTer24
NM_001162426.1:c.1515del NP_001155898.1:p.Tyr507ThrfsTer24
NM_001162427.1:c.1365del NP_001155899.1:p.Tyr457ThrfsTer24
XM_005272211.1:c.1518del XP_005272268.1:p.Tyr508ThrfsTer24
XM_006717271.1:c.1518del XP_006717334.1:p.Tyr508ThrfsTer24
XM_006717272.2:c.1518del XP_006717335.1:p.Tyr508ThrfsTer24
XM_011518979.1:c.1518del XP_011517281.1:p.Tyr508ThrfsTer24
NM_001362177.1:c.1155del NP_001349106.1:p.Tyr387ThrfsTer24
XM_011518979.2:c.1518del XP_011517281.1:p.Tyr508ThrfsTer24
XM_017015096.1:c.1518del XP_016870585.1:p.Tyr508ThrfsTer24
XM_017015097.1:c.1518del XP_016870586.1:p.Tyr508ThrfsTer24
XM_017015098.1:c.1515del XP_016870587.1:p.Tyr507ThrfsTer24
XM_017015100.1:c.1155del XP_016870589.1:p.Tyr387ThrfsTer24
XM_017015101.1:c.1152del XP_016870590.1:p.Tyr386ThrfsTer24
NM_000368.5:c.1518del MANE Select NP_000359.1:p.Tyr508ThrfsTer24
NM_001162426.2:c.1515del NP_001155898.1:p.Tyr507ThrfsTer24
NM_001162427.2:c.1365del NP_001155899.1:p.Tyr457ThrfsTer24
NM_001362177.2:c.1155del NP_001349106.1:p.Tyr387ThrfsTer24