Canonical Allele Identifier: CA16618775
Gene: TSC1 HGNC NCBI

Linked Data

dbSNP Id: rs1064793844

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132910673_132910674del , CM000671.2:g.132910673_132910674del GRCh38
NC_000009.11:g.135786060_135786061del , CM000671.1:g.135786060_135786061del GRCh37
NC_000009.10:g.134775881_134775882del NCBI36
NG_012386.1:g.38962_38963del , LRG_486:g.38962_38963del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1159_1160del ENSP00000496126.2:p.Leu387GlyfsTer17
ENST00000490179.4:c.1162_1163del ENSP00000495533.2:p.Leu388GlyfsTer17
ENST00000642261.2:c.1162_1163del ENSP00000494743.2:p.Leu388GlyfsTer17
ENST00000643275.2:c.1162_1163del ENSP00000495598.2:p.Leu388GlyfsTer17
ENST00000643362.2:c.876+781_876+782del ENSP00000496398.2:n.876+781_876+782del
ENST00000643625.2:c.1162_1163del ENSP00000495546.2:p.Leu388GlyfsTer17
ENST00000643691.2:c.799_800del ENSP00000494916.2:p.Leu267GlyfsTer17
ENST00000644184.2:c.1162_1163del ENSP00000495428.2:p.Leu388GlyfsTer17
ENST00000645129.2:c.1006_1007del ENSP00000493639.2:p.Leu336GlyfsTer17
ENST00000646440.2:c.1162_1163del ENSP00000495830.2:p.Leu388GlyfsTer17
ENST00000647078.2:c.*56_*57del ENSP00000496066.1:n.*56_*57del
ENST00000298552.9:c.1162_1163del MANE Select ENSP00000298552.3:p.Leu388GlyfsTer17
ENST00000493467.6:n.433_434del
ENST00000642344.1:c.*903_*904del ENSP00000494847.1:n.*903_*904del
ENST00000642617.1:c.1159_1160del ENSP00000493773.1:p.Leu387GlyfsTer17
ENST00000642627.1:c.1159_1160del ENSP00000496772.1:p.Leu387GlyfsTer17
ENST00000642646.1:c.1162_1163del ENSP00000496292.1:p.Leu388GlyfsTer17
ENST00000642745.1:c.1162_1163del ENSP00000493963.1:p.Leu388GlyfsTer17
ENST00000642811.1:c.*932_*933del ENSP00000495554.1:n.*932_*933del
ENST00000643072.1:c.1009_1010del ENSP00000496691.1:p.Leu337GlyfsTer17
ENST00000643362.1:c.876+781_876+782del ENSP00000496398.1:n.876+781_876+782del
ENST00000643583.1:c.1162_1163del ENSP00000494685.1:p.Leu388GlyfsTer17
ENST00000643875.1:c.1162_1163del ENSP00000495158.1:p.Leu388GlyfsTer17
ENST00000644097.1:c.1159_1160del ENSP00000494682.1:p.Leu387GlyfsTer17
ENST00000644255.1:c.*929_*930del ENSP00000493608.1:n.*929_*930del
ENST00000644319.1:n.1537_1538del
ENST00000644997.1:c.*816_*817del ENSP00000495654.1:n.*816_*817del
ENST00000645129.1:c.1006_1007del ENSP00000493639.1:p.Leu336GlyfsTer?
ENST00000645150.1:c.1162_1163del ENSP00000494365.1:p.Leu388GlyfsTer17
ENST00000645901.1:n.2013_2014del
ENST00000646391.1:c.*932_*933del ENSP00000494104.1:n.*932_*933del
ENST00000646625.1:c.1162_1163del ENSP00000496263.1:p.Leu388GlyfsTer17
ENST00000647078.1:c.*56_*57del ENSP00000496066.1:n.*56_*57del
ENST00000647279.1:c.*401_*402del ENSP00000494502.1:n.*401_*402del
ENST00000647462.1:c.1159_1160del ENSP00000495821.1:p.Leu387GlyfsTer17
ENST00000647506.1:n.2038_2039del
ENST00000647534.1:n.226_227del
ENST00000298552.7:c.1162_1163del ENSP00000298552.3:p.Leu388GlyfsTer17
ENST00000440111.6:c.1162_1163del ENSP00000394524.2:p.Leu388GlyfsTer17
ENST00000493467.5:n.1358_1359del
ENST00000545250.5:c.1009_1010del ENSP00000444017.1:p.Leu337GlyfsTer17
NM_000368.4:c.1162_1163del , LRG_486t1:c.1162_1163del NP_000359.1:p.Leu388GlyfsTer17
NM_001162426.1:c.1159_1160del NP_001155898.1:p.Leu387GlyfsTer17
NM_001162427.1:c.1009_1010del NP_001155899.1:p.Leu337GlyfsTer17
XM_005272211.1:c.1162_1163del XP_005272268.1:p.Leu388GlyfsTer17
XM_006717271.1:c.1162_1163del XP_006717334.1:p.Leu388GlyfsTer17
XM_006717272.2:c.1162_1163del XP_006717335.1:p.Leu388GlyfsTer17
XM_011518979.1:c.1162_1163del XP_011517281.1:p.Leu388GlyfsTer17
NM_001362177.1:c.799_800del NP_001349106.1:p.Leu267GlyfsTer17
XM_011518979.2:c.1162_1163del XP_011517281.1:p.Leu388GlyfsTer17
XM_017015096.1:c.1162_1163del XP_016870585.1:p.Leu388GlyfsTer17
XM_017015097.1:c.1162_1163del XP_016870586.1:p.Leu388GlyfsTer17
XM_017015098.1:c.1159_1160del XP_016870587.1:p.Leu387GlyfsTer17
XM_017015100.1:c.799_800del XP_016870589.1:p.Leu267GlyfsTer17
XM_017015101.1:c.796_797del XP_016870590.1:p.Leu266GlyfsTer17
NM_000368.5:c.1162_1163del MANE Select NP_000359.1:p.Leu388GlyfsTer17
NM_001162426.2:c.1159_1160del NP_001155898.1:p.Leu387GlyfsTer17
NM_001162427.2:c.1009_1010del NP_001155899.1:p.Leu337GlyfsTer17
NM_001362177.2:c.799_800del NP_001349106.1:p.Leu267GlyfsTer17