Canonical Allele Identifier: CA006852
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217251
dbSNP Id: rs118203726

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132897561_132897562del , CM000671.2:g.132897561_132897562del GRCh38
NC_000009.11:g.135772948_135772949del , CM000671.1:g.135772948_135772949del GRCh37
NC_000009.10:g.134762769_134762770del NCBI36
NG_012386.1:g.52073_52074del , LRG_486:g.52073_52074del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.2672_2673del ENSP00000496126.2:p.Arg891LysfsTer11
ENST00000490179.4:c.2675_2676del ENSP00000495533.2:p.Arg892LysfsTer11
ENST00000642261.2:c.*454_*455del ENSP00000494743.2:n.*454_*455del
ENST00000643275.2:c.*615_*616del ENSP00000495598.2:n.*615_*616del
ENST00000643362.2:c.2288_2289del ENSP00000496398.2:p.Arg763LysfsTer11
ENST00000643625.2:c.*417_*418del ENSP00000495546.2:n.*417_*418del
ENST00000643691.2:c.2312_2313del ENSP00000494916.2:p.Arg771LysfsTer11
ENST00000644184.2:c.2633_2634del ENSP00000495428.2:p.Arg878LysfsTer11
ENST00000645129.2:c.2519_2520del ENSP00000493639.2:p.Arg840LysfsTer11
ENST00000646440.2:c.2675_2676del ENSP00000495830.2:p.Arg892LysfsTer11
ENST00000298552.9:c.2675_2676del MANE Select ENSP00000298552.3:p.Arg892LysfsTer11
ENST00000642261.1:c.735_736del
ENST00000642617.1:c.2672_2673del ENSP00000493773.1:p.Arg891LysfsTer11
ENST00000642627.1:c.2657_2658del ENSP00000496772.1:p.Arg886LysfsTer11
ENST00000642811.1:c.*2445_*2446del ENSP00000495554.1:n.*2445_*2446del
ENST00000643072.1:c.2522_2523del ENSP00000496691.1:p.Arg841LysfsTer11
ENST00000643275.1:c.1149_1150del ENSP00000495598.1:n.1149_1150del
ENST00000643583.1:c.2660_2661del ENSP00000494685.1:p.Arg887LysfsTer11
ENST00000643625.1:c.552_553del ENSP00000495546.1:n.552_553del
ENST00000643875.1:c.2675_2676del ENSP00000495158.1:p.Arg892LysfsTer11
ENST00000644097.1:c.2672_2673del ENSP00000494682.1:p.Arg891LysfsTer11
ENST00000644184.1:c.1370_1371del ENSP00000495428.1:p.Arg457LysfsTer11
ENST00000644255.1:c.*2442_*2443del ENSP00000493608.1:n.*2442_*2443del
ENST00000644319.1:n.3050_3051del
ENST00000644786.1:n.334_335del
ENST00000644882.1:n.1588_1589del
ENST00000645901.1:n.3526_3527del
ENST00000646391.1:c.*2445_*2446del ENSP00000494104.1:n.*2445_*2446del
ENST00000646625.1:c.2675_2676del ENSP00000496263.1:p.Arg892LysfsTer11
ENST00000647262.1:n.1640_1641del
ENST00000647279.1:c.*1914_*1915del ENSP00000494502.1:n.*1914_*1915del
ENST00000647534.1:n.1739_1740del
ENST00000298552.7:c.2675_2676del ENSP00000298552.3:p.Arg892LysfsTer11
ENST00000440111.6:c.2675_2676del ENSP00000394524.2:p.Arg892LysfsTer11
ENST00000545250.5:c.2522_2523del ENSP00000444017.1:p.Arg841LysfsTer11
NM_000368.4:c.2675_2676del , LRG_486t1:c.2675_2676del NP_000359.1:p.Arg892LysfsTer11
NM_001162426.1:c.2672_2673del NP_001155898.1:p.Arg891LysfsTer11
NM_001162427.1:c.2522_2523del NP_001155899.1:p.Arg841LysfsTer11
XM_005272211.1:c.2675_2676del XP_005272268.1:p.Arg892LysfsTer11
XM_006717271.1:c.2675_2676del XP_006717334.1:p.Arg892LysfsTer11
XM_011518979.1:c.2675_2676del XP_011517281.1:p.Arg892LysfsTer11
NM_001362177.1:c.2312_2313del NP_001349106.1:p.Arg771LysfsTer11
XM_011518979.2:c.2675_2676del XP_011517281.1:p.Arg892LysfsTer11
XM_017015096.1:c.2675_2676del XP_016870585.1:p.Arg892LysfsTer11
XM_017015097.1:c.2675_2676del XP_016870586.1:p.Arg892LysfsTer11
XM_017015098.1:c.2672_2673del XP_016870587.1:p.Arg891LysfsTer11
XM_017015100.1:c.2312_2313del XP_016870589.1:p.Arg771LysfsTer11
XM_017015101.1:c.2309_2310del XP_016870590.1:p.Arg770LysfsTer11
NM_000368.5:c.2675_2676del MANE Select NP_000359.1:p.Arg892LysfsTer11
NM_001162426.2:c.2672_2673del NP_001155898.1:p.Arg891LysfsTer11
NM_001162427.2:c.2522_2523del NP_001155899.1:p.Arg841LysfsTer11
NM_001362177.2:c.2312_2313del NP_001349106.1:p.Arg771LysfsTer11