Canonical Allele Identifier: CA005548
Gene: TSC1 HGNC NCBI

Linked Data

dbSNP Id: rs118203597

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132905676_132905677del , CM000671.2:g.132905676_132905677del GRCh38
NC_000009.11:g.135781063_135781064del , CM000671.1:g.135781063_135781064del GRCh37
NC_000009.10:g.134770884_134770885del NCBI36
NG_012386.1:g.43960_43961del , LRG_486:g.43960_43961del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1901_1902del ENSP00000496126.2:p.Thr634ArgfsTer?
ENST00000490179.4:c.1904_1905del ENSP00000495533.2:p.Thr635ArgfsTer?
ENST00000642261.2:c.1904_1905del ENSP00000494743.2:p.Thr635ArgfsTer?
ENST00000643275.2:c.1904_1905del ENSP00000495598.2:p.Thr635ArgfsTer?
ENST00000643362.2:c.1517_1518del ENSP00000496398.2:p.Thr506ArgfsTer?
ENST00000643625.2:c.1904_1905del ENSP00000495546.2:p.Thr635ArgfsTer?
ENST00000643691.2:c.1541_1542del ENSP00000494916.2:p.Thr514ArgfsTer?
ENST00000644184.2:c.1904_1905del ENSP00000495428.2:p.Thr635ArgfsTer?
ENST00000645129.2:c.1748_1749del ENSP00000493639.2:p.Thr583ArgfsTer?
ENST00000646440.2:c.1904_1905del ENSP00000495830.2:p.Thr635ArgfsTer?
ENST00000298552.9:c.1904_1905del MANE Select ENSP00000298552.3:p.Thr635ArgfsTer?
ENST00000642617.1:c.1901_1902del ENSP00000493773.1:p.Thr634ArgfsTer?
ENST00000642627.1:c.1901_1902del ENSP00000496772.1:p.Thr634ArgfsTer?
ENST00000642811.1:c.*1674_*1675del ENSP00000495554.1:n.*1674_*1675del
ENST00000643072.1:c.1751_1752del ENSP00000496691.1:p.Thr584ArgfsTer?
ENST00000643275.1:c.422_423del ENSP00000495598.1:p.Thr141ArgfsTer?
ENST00000643583.1:c.1904_1905del ENSP00000494685.1:p.Thr635ArgfsTer?
ENST00000643875.1:c.1904_1905del ENSP00000495158.1:p.Thr635ArgfsTer?
ENST00000644097.1:c.1901_1902del ENSP00000494682.1:p.Thr634ArgfsTer?
ENST00000644184.1:c.641_642del ENSP00000495428.1:p.Thr214ArgfsTer?
ENST00000644255.1:c.*1671_*1672del ENSP00000493608.1:n.*1671_*1672del
ENST00000644319.1:n.2279_2280del
ENST00000644882.1:n.859_860del
ENST00000645901.1:n.2755_2756del
ENST00000646391.1:c.*1674_*1675del ENSP00000494104.1:n.*1674_*1675del
ENST00000646625.1:c.1904_1905del ENSP00000496263.1:p.Thr635ArgfsTer?
ENST00000647262.1:n.869_870del
ENST00000647279.1:c.*1143_*1144del ENSP00000494502.1:n.*1143_*1144del
ENST00000647506.1:n.2780_2781del
ENST00000647534.1:n.968_969del
ENST00000298552.7:c.1904_1905del ENSP00000298552.3:p.Thr635ArgfsTer?
ENST00000440111.6:c.1904_1905del ENSP00000394524.2:p.Thr635ArgfsTer?
ENST00000545250.5:c.1751_1752del ENSP00000444017.1:p.Thr584ArgfsTer?
NM_000368.4:c.1904_1905del , LRG_486t1:c.1904_1905del NP_000359.1:p.Thr635ArgfsTer?
NM_001162426.1:c.1901_1902del NP_001155898.1:p.Thr634ArgfsTer?
NM_001162427.1:c.1751_1752del NP_001155899.1:p.Thr584ArgfsTer?
XM_005272211.1:c.1904_1905del XP_005272268.1:p.Thr635ArgfsTer?
XM_006717271.1:c.1904_1905del XP_006717334.1:p.Thr635ArgfsTer?
XM_006717272.2:c.1904_1905del XP_006717335.1:p.Thr635ArgfsTer?
XM_011518979.1:c.1904_1905del XP_011517281.1:p.Thr635ArgfsTer?
NM_001362177.1:c.1541_1542del NP_001349106.1:p.Thr514ArgfsTer?
XM_011518979.2:c.1904_1905del XP_011517281.1:p.Thr635ArgfsTer?
XM_017015096.1:c.1904_1905del XP_016870585.1:p.Thr635ArgfsTer?
XM_017015097.1:c.1904_1905del XP_016870586.1:p.Thr635ArgfsTer?
XM_017015098.1:c.1901_1902del XP_016870587.1:p.Thr634ArgfsTer?
XM_017015100.1:c.1541_1542del XP_016870589.1:p.Thr514ArgfsTer?
XM_017015101.1:c.1538_1539del XP_016870590.1:p.Thr513ArgfsTer?
NM_000368.5:c.1904_1905del MANE Select NP_000359.1:p.Thr635ArgfsTer?
NM_001162426.2:c.1901_1902del NP_001155898.1:p.Thr634ArgfsTer?
NM_001162427.2:c.1751_1752del NP_001155899.1:p.Thr584ArgfsTer?
NM_001362177.2:c.1541_1542del NP_001349106.1:p.Thr514ArgfsTer?