Canonical Allele Identifier: CA16618774
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421669
ClinVar RCV Id: RCV001865459
dbSNP Id: rs1064795285

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132907309_132907310del , CM000671.2:g.132907309_132907310del GRCh38
NC_000009.11:g.135782696_135782697del , CM000671.1:g.135782696_135782697del GRCh37
NC_000009.10:g.134772517_134772518del NCBI36
NG_012386.1:g.42326_42327del , LRG_486:g.42326_42327del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1323_1324del ENSP00000496126.2:p.Gly442IlefsTer15
ENST00000490179.4:c.1326_1327del ENSP00000495533.2:p.Gly443IlefsTer15
ENST00000642261.2:c.1326_1327del ENSP00000494743.2:p.Gly443IlefsTer15
ENST00000643275.2:c.1326_1327del ENSP00000495598.2:p.Gly443IlefsTer15
ENST00000643362.2:c.939_940del ENSP00000496398.2:p.Gly314IlefsTer15
ENST00000643625.2:c.1326_1327del ENSP00000495546.2:p.Gly443IlefsTer15
ENST00000643691.2:c.963_964del ENSP00000494916.2:p.Gly322IlefsTer15
ENST00000644184.2:c.1326_1327del ENSP00000495428.2:p.Gly443IlefsTer15
ENST00000645129.2:c.1170_1171del ENSP00000493639.2:p.Gly391IlefsTer15
ENST00000646440.2:c.1326_1327del ENSP00000495830.2:p.Gly443IlefsTer15
ENST00000298552.9:c.1326_1327del MANE Select ENSP00000298552.3:p.Gly443IlefsTer15
ENST00000642344.1:c.*1067_*1068del ENSP00000494847.1:n.*1067_*1068del
ENST00000642617.1:c.1323_1324del ENSP00000493773.1:p.Gly442IlefsTer15
ENST00000642627.1:c.1323_1324del ENSP00000496772.1:p.Gly442IlefsTer15
ENST00000642811.1:c.*1096_*1097del ENSP00000495554.1:n.*1096_*1097del
ENST00000643072.1:c.1173_1174del ENSP00000496691.1:p.Gly392IlefsTer15
ENST00000643362.1:c.939_940del ENSP00000496398.1:p.Gly314IlefsTer15
ENST00000643583.1:c.1326_1327del ENSP00000494685.1:p.Gly443IlefsTer15
ENST00000643875.1:c.1326_1327del ENSP00000495158.1:p.Gly443IlefsTer15
ENST00000644097.1:c.1323_1324del ENSP00000494682.1:p.Gly442IlefsTer15
ENST00000644184.1:c.63_64del ENSP00000495428.1:p.Gly22IlefsTer15
ENST00000644255.1:c.*1093_*1094del ENSP00000493608.1:n.*1093_*1094del
ENST00000644319.1:n.1701_1702del
ENST00000645901.1:n.2177_2178del
ENST00000646391.1:c.*1096_*1097del ENSP00000494104.1:n.*1096_*1097del
ENST00000646625.1:c.1326_1327del ENSP00000496263.1:p.Gly443IlefsTer15
ENST00000647279.1:c.*565_*566del ENSP00000494502.1:n.*565_*566del
ENST00000647506.1:n.2202_2203del
ENST00000647534.1:n.390_391del
ENST00000298552.7:c.1326_1327del ENSP00000298552.3:p.Gly443IlefsTer15
ENST00000440111.6:c.1326_1327del ENSP00000394524.2:p.Gly443IlefsTer15
ENST00000545250.5:c.1173_1174del ENSP00000444017.1:p.Gly392IlefsTer15
NM_000368.4:c.1326_1327del , LRG_486t1:c.1326_1327del NP_000359.1:p.Gly443IlefsTer15
NM_001162426.1:c.1323_1324del NP_001155898.1:p.Gly442IlefsTer15
NM_001162427.1:c.1173_1174del NP_001155899.1:p.Gly392IlefsTer15
XM_005272211.1:c.1326_1327del XP_005272268.1:p.Gly443IlefsTer15
XM_006717271.1:c.1326_1327del XP_006717334.1:p.Gly443IlefsTer15
XM_006717272.2:c.1326_1327del XP_006717335.1:p.Gly443IlefsTer15
XM_011518979.1:c.1326_1327del XP_011517281.1:p.Gly443IlefsTer15
NM_001362177.1:c.963_964del NP_001349106.1:p.Gly322IlefsTer15
XM_011518979.2:c.1326_1327del XP_011517281.1:p.Gly443IlefsTer15
XM_017015096.1:c.1326_1327del XP_016870585.1:p.Gly443IlefsTer15
XM_017015097.1:c.1326_1327del XP_016870586.1:p.Gly443IlefsTer15
XM_017015098.1:c.1323_1324del XP_016870587.1:p.Gly442IlefsTer15
XM_017015100.1:c.963_964del XP_016870589.1:p.Gly322IlefsTer15
XM_017015101.1:c.960_961del XP_016870590.1:p.Gly321IlefsTer15
NM_000368.5:c.1326_1327del MANE Select NP_000359.1:p.Gly443IlefsTer15
NM_001162426.2:c.1323_1324del NP_001155898.1:p.Gly442IlefsTer15
NM_001162427.2:c.1173_1174del NP_001155899.1:p.Gly392IlefsTer15
NM_001362177.2:c.963_964del NP_001349106.1:p.Gly322IlefsTer15