Canonical Allele Identifier: CA16612574
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411255
ClinVar RCV Id: RCV000466326
dbSNP Id: rs1060503213

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132903695del , CM000671.2:g.132903695del GRCh38
NC_000009.11:g.135779082del , CM000671.1:g.135779082del GRCh37
NC_000009.10:g.134768903del NCBI36
NG_012386.1:g.45940del , LRG_486:g.45940del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.2162del ENSP00000496126.2:p.Lys721ArgfsTer2
ENST00000490179.4:c.2165del ENSP00000495533.2:p.Lys722ArgfsTer2
ENST00000642261.2:c.2165del ENSP00000494743.2:p.Lys722ArgfsTer2
ENST00000643275.2:c.*105del ENSP00000495598.2:n.*105del
ENST00000643362.2:c.1778del ENSP00000496398.2:p.Lys593ArgfsTer2
ENST00000643625.2:c.2041+717del ENSP00000495546.2:n.2041+717del
ENST00000643691.2:c.1802del ENSP00000494916.2:p.Lys601ArgfsTer2
ENST00000644184.2:c.2165del ENSP00000495428.2:p.Lys722ArgfsTer2
ENST00000645129.2:c.2009del ENSP00000493639.2:p.Lys670ArgfsTer2
ENST00000646440.2:c.2165del ENSP00000495830.2:p.Lys722ArgfsTer2
ENST00000298552.9:c.2165del MANE Select ENSP00000298552.3:p.Lys722ArgfsTer2
ENST00000642261.1:c.229del
ENST00000642617.1:c.2162del ENSP00000493773.1:p.Lys721ArgfsTer2
ENST00000642627.1:c.2147del ENSP00000496772.1:p.Lys716ArgfsTer2
ENST00000642811.1:c.*1935del ENSP00000495554.1:n.*1935del
ENST00000643072.1:c.2012del ENSP00000496691.1:p.Lys671ArgfsTer2
ENST00000643275.1:c.639del ENSP00000495598.1:n.639del
ENST00000643583.1:c.2150del ENSP00000494685.1:p.Lys717ArgfsTer2
ENST00000643625.1:c.85+717del ENSP00000495546.1:n.85+717del
ENST00000643875.1:c.2165del ENSP00000495158.1:p.Lys722ArgfsTer2
ENST00000644097.1:c.2162del ENSP00000494682.1:p.Lys721ArgfsTer2
ENST00000644184.1:c.902del ENSP00000495428.1:p.Lys301ArgfsTer2
ENST00000644255.1:c.*1932del ENSP00000493608.1:n.*1932del
ENST00000644319.1:n.2540del
ENST00000644882.1:n.1120del
ENST00000645901.1:n.3016del
ENST00000646391.1:c.*1935del ENSP00000494104.1:n.*1935del
ENST00000646625.1:c.2165del ENSP00000496263.1:p.Lys722ArgfsTer2
ENST00000647262.1:n.1130del
ENST00000647279.1:c.*1404del ENSP00000494502.1:n.*1404del
ENST00000647506.1:n.3041del
ENST00000647534.1:n.1229del
ENST00000298552.7:c.2165del ENSP00000298552.3:p.Lys722ArgfsTer2
ENST00000440111.6:c.2165del ENSP00000394524.2:p.Lys722ArgfsTer2
ENST00000545250.5:c.2012del ENSP00000444017.1:p.Lys671ArgfsTer2
NM_000368.4:c.2165del , LRG_486t1:c.2165del NP_000359.1:p.Lys722ArgfsTer2
NM_001162426.1:c.2162del NP_001155898.1:p.Lys721ArgfsTer2
NM_001162427.1:c.2012del NP_001155899.1:p.Lys671ArgfsTer2
XM_005272211.1:c.2165del XP_005272268.1:p.Lys722ArgfsTer2
XM_006717271.1:c.2165del XP_006717334.1:p.Lys722ArgfsTer2
XM_011518979.1:c.2165del XP_011517281.1:p.Lys722ArgfsTer2
NM_001362177.1:c.1802del NP_001349106.1:p.Lys601ArgfsTer2
XM_011518979.2:c.2165del XP_011517281.1:p.Lys722ArgfsTer2
XM_017015096.1:c.2165del XP_016870585.1:p.Lys722ArgfsTer2
XM_017015097.1:c.2165del XP_016870586.1:p.Lys722ArgfsTer2
XM_017015098.1:c.2162del XP_016870587.1:p.Lys721ArgfsTer2
XM_017015100.1:c.1802del XP_016870589.1:p.Lys601ArgfsTer2
XM_017015101.1:c.1799del XP_016870590.1:p.Lys600ArgfsTer2
NM_000368.5:c.2165del MANE Select NP_000359.1:p.Lys722ArgfsTer2
NM_001162426.2:c.2162del NP_001155898.1:p.Lys721ArgfsTer2
NM_001162427.2:c.2012del NP_001155899.1:p.Lys671ArgfsTer2
NM_001362177.2:c.1802del NP_001349106.1:p.Lys601ArgfsTer2