Canonical Allele Identifier: CA004454
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48748
dbSNP Id: rs118203501

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132910685del , CM000671.2:g.132910685del GRCh38
NC_000009.11:g.135786072del , CM000671.1:g.135786072del GRCh37
NC_000009.10:g.134775893del NCBI36
NG_012386.1:g.38952del , LRG_486:g.38952del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1149del ENSP00000496126.2:p.Gly384GlufsTer?
ENST00000490179.4:c.1152del ENSP00000495533.2:p.Gly385GlufsTer?
ENST00000642261.2:c.1152del ENSP00000494743.2:p.Gly385GlufsTer?
ENST00000643275.2:c.1152del ENSP00000495598.2:p.Gly385GlufsTer?
ENST00000643362.2:c.876+771del ENSP00000496398.2:n.876+771del
ENST00000643625.2:c.1152del ENSP00000495546.2:p.Gly385GlufsTer?
ENST00000643691.2:c.789del ENSP00000494916.2:p.Gly264GlufsTer?
ENST00000644184.2:c.1152del ENSP00000495428.2:p.Gly385GlufsTer?
ENST00000645129.2:c.996del ENSP00000493639.2:p.Gly333GlufsTer?
ENST00000646440.2:c.1152del ENSP00000495830.2:p.Gly385GlufsTer?
ENST00000647078.2:c.*46del ENSP00000496066.1:n.*46del
ENST00000298552.9:c.1152del MANE Select ENSP00000298552.3:p.Gly385GlufsTer?
ENST00000493467.6:n.423del
ENST00000642344.1:c.*893del ENSP00000494847.1:n.*893del
ENST00000642617.1:c.1149del ENSP00000493773.1:p.Gly384GlufsTer?
ENST00000642627.1:c.1149del ENSP00000496772.1:p.Gly384GlufsTer?
ENST00000642646.1:c.1152del ENSP00000496292.1:p.Gly385GlufsTer?
ENST00000642745.1:c.1152del ENSP00000493963.1:p.Gly385GlufsTer?
ENST00000642811.1:c.*922del ENSP00000495554.1:n.*922del
ENST00000643072.1:c.999del ENSP00000496691.1:p.Gly334GlufsTer?
ENST00000643362.1:c.876+771del ENSP00000496398.1:n.876+771del
ENST00000643583.1:c.1152del ENSP00000494685.1:p.Gly385GlufsTer?
ENST00000643875.1:c.1152del ENSP00000495158.1:p.Gly385GlufsTer?
ENST00000644097.1:c.1149del ENSP00000494682.1:p.Gly384GlufsTer?
ENST00000644255.1:c.*919del ENSP00000493608.1:n.*919del
ENST00000644319.1:n.1527del
ENST00000644997.1:c.*806del ENSP00000495654.1:n.*806del
ENST00000645129.1:c.996del ENSP00000493639.1:p.Gly333GlufsTer?
ENST00000645150.1:c.1152del ENSP00000494365.1:p.Gly385GlufsTer?
ENST00000645901.1:n.2003del
ENST00000646391.1:c.*922del ENSP00000494104.1:n.*922del
ENST00000646625.1:c.1152del ENSP00000496263.1:p.Gly385GlufsTer?
ENST00000647078.1:c.*46del ENSP00000496066.1:n.*46del
ENST00000647279.1:c.*391del ENSP00000494502.1:n.*391del
ENST00000647462.1:c.1149del ENSP00000495821.1:p.Gly384GlufsTer?
ENST00000647506.1:n.2028del
ENST00000647534.1:n.216del
ENST00000298552.7:c.1152del ENSP00000298552.3:p.Gly385GlufsTer?
ENST00000440111.6:c.1152del ENSP00000394524.2:p.Gly385GlufsTer?
ENST00000493467.5:n.1348del
ENST00000545250.5:c.999del ENSP00000444017.1:p.Gly334GlufsTer?
NM_000368.4:c.1152del , LRG_486t1:c.1152del NP_000359.1:p.Gly385GlufsTer?
NM_001162426.1:c.1149del NP_001155898.1:p.Gly384GlufsTer?
NM_001162427.1:c.999del NP_001155899.1:p.Gly334GlufsTer?
XM_005272211.1:c.1152del XP_005272268.1:p.Gly385GlufsTer?
XM_006717271.1:c.1152del XP_006717334.1:p.Gly385GlufsTer?
XM_006717272.2:c.1152del XP_006717335.1:p.Gly385GlufsTer?
XM_011518979.1:c.1152del XP_011517281.1:p.Gly385GlufsTer?
NM_001362177.1:c.789del NP_001349106.1:p.Gly264GlufsTer?
XM_011518979.2:c.1152del XP_011517281.1:p.Gly385GlufsTer?
XM_017015096.1:c.1152del XP_016870585.1:p.Gly385GlufsTer?
XM_017015097.1:c.1152del XP_016870586.1:p.Gly385GlufsTer?
XM_017015098.1:c.1149del XP_016870587.1:p.Gly384GlufsTer?
XM_017015100.1:c.789del XP_016870589.1:p.Gly264GlufsTer?
XM_017015101.1:c.786del XP_016870590.1:p.Gly263GlufsTer?
NM_000368.5:c.1152del MANE Select NP_000359.1:p.Gly385GlufsTer?
NM_001162426.2:c.1149del NP_001155898.1:p.Gly384GlufsTer?
NM_001162427.2:c.999del NP_001155899.1:p.Gly334GlufsTer?
NM_001362177.2:c.789del NP_001349106.1:p.Gly264GlufsTer?