Canonical Allele Identifier: CA005077
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48805
dbSNP Id: rs118203550

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132905997_132905998del , CM000671.2:g.132905997_132905998del GRCh38
NC_000009.11:g.135781384_135781385del , CM000671.1:g.135781384_135781385del GRCh37
NC_000009.10:g.134771205_134771206del NCBI36
NG_012386.1:g.43636_43637del , LRG_486:g.43636_43637del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1577_1578del ENSP00000496126.2:p.Gln526ArgfsTer7
ENST00000490179.4:c.1580_1581del ENSP00000495533.2:p.Gln527ArgfsTer7
ENST00000642261.2:c.1580_1581del ENSP00000494743.2:p.Gln527ArgfsTer7
ENST00000643275.2:c.1580_1581del ENSP00000495598.2:p.Gln527ArgfsTer7
ENST00000643362.2:c.1193_1194del ENSP00000496398.2:p.Gln398ArgfsTer7
ENST00000643625.2:c.1580_1581del ENSP00000495546.2:p.Gln527ArgfsTer7
ENST00000643691.2:c.1217_1218del ENSP00000494916.2:p.Gln406ArgfsTer7
ENST00000644184.2:c.1580_1581del ENSP00000495428.2:p.Gln527ArgfsTer7
ENST00000645129.2:c.1424_1425del ENSP00000493639.2:p.Gln475ArgfsTer7
ENST00000646440.2:c.1580_1581del ENSP00000495830.2:p.Gln527ArgfsTer7
ENST00000298552.9:c.1580_1581del MANE Select ENSP00000298552.3:p.Gln527ArgfsTer7
ENST00000642617.1:c.1577_1578del ENSP00000493773.1:p.Gln526ArgfsTer7
ENST00000642627.1:c.1577_1578del ENSP00000496772.1:p.Gln526ArgfsTer7
ENST00000642811.1:c.*1350_*1351del ENSP00000495554.1:n.*1350_*1351del
ENST00000643072.1:c.1427_1428del ENSP00000496691.1:p.Gln476ArgfsTer7
ENST00000643275.1:c.98_99del ENSP00000495598.1:p.Gln33ArgfsTer7
ENST00000643583.1:c.1580_1581del ENSP00000494685.1:p.Gln527ArgfsTer7
ENST00000643875.1:c.1580_1581del ENSP00000495158.1:p.Gln527ArgfsTer7
ENST00000644097.1:c.1577_1578del ENSP00000494682.1:p.Gln526ArgfsTer7
ENST00000644184.1:c.317_318del ENSP00000495428.1:p.Gln106ArgfsTer7
ENST00000644255.1:c.*1347_*1348del ENSP00000493608.1:n.*1347_*1348del
ENST00000644319.1:n.1955_1956del
ENST00000644882.1:n.535_536del
ENST00000645901.1:n.2431_2432del
ENST00000646391.1:c.*1350_*1351del ENSP00000494104.1:n.*1350_*1351del
ENST00000646625.1:c.1580_1581del ENSP00000496263.1:p.Gln527ArgfsTer7
ENST00000647262.1:n.545_546del
ENST00000647279.1:c.*819_*820del ENSP00000494502.1:n.*819_*820del
ENST00000647506.1:n.2456_2457del
ENST00000647534.1:n.644_645del
ENST00000298552.7:c.1580_1581del ENSP00000298552.3:p.Gln527ArgfsTer7
ENST00000440111.6:c.1580_1581del ENSP00000394524.2:p.Gln527ArgfsTer7
ENST00000545250.5:c.1427_1428del ENSP00000444017.1:p.Gln476ArgfsTer7
NM_000368.4:c.1580_1581del , LRG_486t1:c.1580_1581del NP_000359.1:p.Gln527ArgfsTer7
NM_001162426.1:c.1577_1578del NP_001155898.1:p.Gln526ArgfsTer7
NM_001162427.1:c.1427_1428del NP_001155899.1:p.Gln476ArgfsTer7
XM_005272211.1:c.1580_1581del XP_005272268.1:p.Gln527ArgfsTer7
XM_006717271.1:c.1580_1581del XP_006717334.1:p.Gln527ArgfsTer7
XM_006717272.2:c.1580_1581del XP_006717335.1:p.Gln527ArgfsTer7
XM_011518979.1:c.1580_1581del XP_011517281.1:p.Gln527ArgfsTer7
NM_001362177.1:c.1217_1218del NP_001349106.1:p.Gln406ArgfsTer7
XM_011518979.2:c.1580_1581del XP_011517281.1:p.Gln527ArgfsTer7
XM_017015096.1:c.1580_1581del XP_016870585.1:p.Gln527ArgfsTer7
XM_017015097.1:c.1580_1581del XP_016870586.1:p.Gln527ArgfsTer7
XM_017015098.1:c.1577_1578del XP_016870587.1:p.Gln526ArgfsTer7
XM_017015100.1:c.1217_1218del XP_016870589.1:p.Gln406ArgfsTer7
XM_017015101.1:c.1214_1215del XP_016870590.1:p.Gln405ArgfsTer7
NM_000368.5:c.1580_1581del MANE Select NP_000359.1:p.Gln527ArgfsTer7
NM_001162426.2:c.1577_1578del NP_001155898.1:p.Gln526ArgfsTer7
NM_001162427.2:c.1427_1428del NP_001155899.1:p.Gln476ArgfsTer7
NM_001362177.2:c.1217_1218del NP_001349106.1:p.Gln406ArgfsTer7