Canonical Allele Identifier: CA16618771
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419172
ClinVar RCV Id: RCV000482362
dbSNP Id: rs1064793693

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132906133_132906135delinsG , CM000671.2:g.132906133_132906135delinsG GRCh38
NC_000009.11:g.135781520_135781522delinsG , CM000671.1:g.135781520_135781522delinsG GRCh37
NC_000009.10:g.134771341_134771343delinsG NCBI36
NG_012386.1:g.43499_43501delinsC , LRG_486:g.43499_43501delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1440_1442delinsC ENSP00000496126.2:p.Ser482Ter
ENST00000490179.4:c.1443_1445delinsC ENSP00000495533.2:p.Ser483Ter
ENST00000642261.2:c.1443_1445delinsC ENSP00000494743.2:p.Ser483Ter
ENST00000643275.2:c.1443_1445delinsC ENSP00000495598.2:p.Ser483Ter
ENST00000643362.2:c.1056_1058delinsC ENSP00000496398.2:p.Ser354Ter
ENST00000643625.2:c.1443_1445delinsC ENSP00000495546.2:p.Ser483Ter
ENST00000643691.2:c.1080_1082delinsC ENSP00000494916.2:p.Ser362Ter
ENST00000644184.2:c.1443_1445delinsC ENSP00000495428.2:p.Ser483Ter
ENST00000645129.2:c.1287_1289delinsC ENSP00000493639.2:p.Ser431Ter
ENST00000646440.2:c.1443_1445delinsC ENSP00000495830.2:p.Ser483Ter
ENST00000298552.9:c.1443_1445delinsC MANE Select ENSP00000298552.3:p.Ser483Ter
ENST00000642617.1:c.1440_1442delinsC ENSP00000493773.1:p.Ser482Ter
ENST00000642627.1:c.1440_1442delinsC ENSP00000496772.1:p.Ser482Ter
ENST00000642811.1:c.*1213_*1215delinsC ENSP00000495554.1:n.*1213_*1215delinsC
ENST00000643072.1:c.1290_1292delinsC ENSP00000496691.1:p.Ser432Ter
ENST00000643583.1:c.1443_1445delinsC ENSP00000494685.1:p.Ser483Ter
ENST00000643875.1:c.1443_1445delinsC ENSP00000495158.1:p.Ser483Ter
ENST00000644097.1:c.1440_1442delinsC ENSP00000494682.1:p.Ser482Ter
ENST00000644184.1:c.180_182delinsC ENSP00000495428.1:p.Ser62Ter
ENST00000644255.1:c.*1210_*1212delinsC ENSP00000493608.1:n.*1210_*1212delinsC
ENST00000644319.1:n.1818_1820delinsC
ENST00000644882.1:n.398_400delinsC
ENST00000645901.1:n.2294_2296delinsC
ENST00000646391.1:c.*1213_*1215delinsC ENSP00000494104.1:n.*1213_*1215delinsC
ENST00000646625.1:c.1443_1445delinsC ENSP00000496263.1:p.Ser483Ter
ENST00000647262.1:n.408_410delinsC
ENST00000647279.1:c.*682_*684delinsC ENSP00000494502.1:n.*682_*684delinsC
ENST00000647506.1:n.2319_2321delinsC
ENST00000647534.1:n.507_509delinsC
ENST00000298552.7:c.1443_1445delinsC ENSP00000298552.3:p.Ser483Ter
ENST00000440111.6:c.1443_1445delinsC ENSP00000394524.2:p.Ser483Ter
ENST00000545250.5:c.1290_1292delinsC ENSP00000444017.1:p.Ser432Ter
NM_000368.4:c.1443_1445delinsC , LRG_486t1:c.1443_1445delinsC NP_000359.1:p.Ser483Ter
NM_001162426.1:c.1440_1442delinsC NP_001155898.1:p.Ser482Ter
NM_001162427.1:c.1290_1292delinsC NP_001155899.1:p.Ser432Ter
XM_005272211.1:c.1443_1445delinsC XP_005272268.1:p.Ser483Ter
XM_006717271.1:c.1443_1445delinsC XP_006717334.1:p.Ser483Ter
XM_006717272.2:c.1443_1445delinsC XP_006717335.1:p.Ser483Ter
XM_011518979.1:c.1443_1445delinsC XP_011517281.1:p.Ser483Ter
NM_001362177.1:c.1080_1082delinsC NP_001349106.1:p.Ser362Ter
XM_011518979.2:c.1443_1445delinsC XP_011517281.1:p.Ser483Ter
XM_017015096.1:c.1443_1445delinsC XP_016870585.1:p.Ser483Ter
XM_017015097.1:c.1443_1445delinsC XP_016870586.1:p.Ser483Ter
XM_017015098.1:c.1440_1442delinsC XP_016870587.1:p.Ser482Ter
XM_017015100.1:c.1080_1082delinsC XP_016870589.1:p.Ser362Ter
XM_017015101.1:c.1077_1079delinsC XP_016870590.1:p.Ser361Ter
NM_000368.5:c.1443_1445delinsC MANE Select NP_000359.1:p.Ser483Ter
NM_001162426.2:c.1440_1442delinsC NP_001155898.1:p.Ser482Ter
NM_001162427.2:c.1290_1292delinsC NP_001155899.1:p.Ser432Ter
NM_001362177.2:c.1080_1082delinsC NP_001349106.1:p.Ser362Ter