Canonical Allele Identifier: CA005539
Gene: TSC1 HGNC NCBI

Linked Data

dbSNP Id: rs118203595

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132905691_132905694del , CM000671.2:g.132905691_132905694del GRCh38
NC_000009.11:g.135781078_135781081del , CM000671.1:g.135781078_135781081del GRCh37
NC_000009.10:g.134770899_134770902del NCBI36
NG_012386.1:g.43944_43947del , LRG_486:g.43944_43947del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.1885_1888del ENSP00000496126.2:p.Lys629GlnfsTer22
ENST00000490179.4:c.1888_1891del ENSP00000495533.2:p.Lys630GlnfsTer22
ENST00000642261.2:c.1888_1891del ENSP00000494743.2:p.Lys630GlnfsTer22
ENST00000643275.2:c.1888_1891del ENSP00000495598.2:p.Lys630GlnfsTer22
ENST00000643362.2:c.1501_1504del ENSP00000496398.2:p.Lys501GlnfsTer22
ENST00000643625.2:c.1888_1891del ENSP00000495546.2:p.Lys630GlnfsTer22
ENST00000643691.2:c.1525_1528del ENSP00000494916.2:p.Lys509GlnfsTer22
ENST00000644184.2:c.1888_1891del ENSP00000495428.2:p.Lys630GlnfsTer22
ENST00000645129.2:c.1732_1735del ENSP00000493639.2:p.Lys578GlnfsTer22
ENST00000646440.2:c.1888_1891del ENSP00000495830.2:p.Lys630GlnfsTer22
ENST00000298552.9:c.1888_1891del MANE Select ENSP00000298552.3:p.Lys630GlnfsTer22
ENST00000642617.1:c.1885_1888del ENSP00000493773.1:p.Lys629GlnfsTer22
ENST00000642627.1:c.1885_1888del ENSP00000496772.1:p.Lys629GlnfsTer22
ENST00000642811.1:c.*1658_*1661del ENSP00000495554.1:n.*1658_*1661del
ENST00000643072.1:c.1735_1738del ENSP00000496691.1:p.Lys579GlnfsTer22
ENST00000643275.1:c.406_409del ENSP00000495598.1:p.Lys136GlnfsTer22
ENST00000643583.1:c.1888_1891del ENSP00000494685.1:p.Lys630GlnfsTer22
ENST00000643875.1:c.1888_1891del ENSP00000495158.1:p.Lys630GlnfsTer22
ENST00000644097.1:c.1885_1888del ENSP00000494682.1:p.Lys629GlnfsTer22
ENST00000644184.1:c.625_628del ENSP00000495428.1:p.Lys209GlnfsTer22
ENST00000644255.1:c.*1655_*1658del ENSP00000493608.1:n.*1655_*1658del
ENST00000644319.1:n.2263_2266del
ENST00000644882.1:n.843_846del
ENST00000645901.1:n.2739_2742del
ENST00000646391.1:c.*1658_*1661del ENSP00000494104.1:n.*1658_*1661del
ENST00000646625.1:c.1888_1891del ENSP00000496263.1:p.Lys630GlnfsTer22
ENST00000647262.1:n.853_856del
ENST00000647279.1:c.*1127_*1130del ENSP00000494502.1:n.*1127_*1130del
ENST00000647506.1:n.2764_2767del
ENST00000647534.1:n.952_955del
ENST00000298552.7:c.1888_1891del ENSP00000298552.3:p.Lys630GlnfsTer22
ENST00000440111.6:c.1888_1891del ENSP00000394524.2:p.Lys630GlnfsTer22
ENST00000545250.5:c.1735_1738del ENSP00000444017.1:p.Lys579GlnfsTer22
NM_000368.4:c.1888_1891del , LRG_486t1:c.1888_1891del NP_000359.1:p.Lys630GlnfsTer22
NM_001162426.1:c.1885_1888del NP_001155898.1:p.Lys629GlnfsTer22
NM_001162427.1:c.1735_1738del NP_001155899.1:p.Lys579GlnfsTer22
XM_005272211.1:c.1888_1891del XP_005272268.1:p.Lys630GlnfsTer22
XM_006717271.1:c.1888_1891del XP_006717334.1:p.Lys630GlnfsTer22
XM_006717272.2:c.1888_1891del XP_006717335.1:p.Lys630GlnfsTer22
XM_011518979.1:c.1888_1891del XP_011517281.1:p.Lys630GlnfsTer22
NM_001362177.1:c.1525_1528del NP_001349106.1:p.Lys509GlnfsTer22
XM_011518979.2:c.1888_1891del XP_011517281.1:p.Lys630GlnfsTer22
XM_017015096.1:c.1888_1891del XP_016870585.1:p.Lys630GlnfsTer22
XM_017015097.1:c.1888_1891del XP_016870586.1:p.Lys630GlnfsTer22
XM_017015098.1:c.1885_1888del XP_016870587.1:p.Lys629GlnfsTer22
XM_017015100.1:c.1525_1528del XP_016870589.1:p.Lys509GlnfsTer22
XM_017015101.1:c.1522_1525del XP_016870590.1:p.Lys508GlnfsTer22
NM_000368.5:c.1888_1891del MANE Select NP_000359.1:p.Lys630GlnfsTer22
NM_001162426.2:c.1885_1888del NP_001155898.1:p.Lys629GlnfsTer22
NM_001162427.2:c.1735_1738del NP_001155899.1:p.Lys579GlnfsTer22
NM_001362177.2:c.1525_1528del NP_001349106.1:p.Lys509GlnfsTer22