Canonical Allele Identifier: CA2695203319

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903723_132903728delinsT , CM000671.2:g.132903723_132903728delinsT	GRCh38
NC_000009.11:g.135779110_135779115delinsT , CM000671.1:g.135779110_135779115delinsT	GRCh37
NC_000009.10:g.134768931_134768936delinsT	NCBI36
NG_012386.1:g.45906_45911delinsA , LRG_486:g.45906_45911delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2128_2133delinsA	ENSP00000496126.2:p.Gln710SerfsTer21
ENST00000490179.4:c.2131_2136delinsA	ENSP00000495533.2:p.Gln711SerfsTer21
ENST00000642261.2:c.2131_2136delinsA	ENSP00000494743.2:p.Gln711SerfsTer21
ENST00000643275.2:c.*71_*76delinsA	ENSP00000495598.2:n.*71_*76delinsA
ENST00000643362.2:c.1744_1749delinsA	ENSP00000496398.2:p.Gln582SerfsTer21
ENST00000643625.2:c.2041+683_2041+688delinsA	ENSP00000495546.2:n.2041+683_2041+688delinsA
ENST00000643691.2:c.1768_1773delinsA	ENSP00000494916.2:p.Gln590SerfsTer21
ENST00000644184.2:c.2131_2136delinsA	ENSP00000495428.2:p.Gln711SerfsTer21
ENST00000645129.2:c.1975_1980delinsA	ENSP00000493639.2:p.Gln659SerfsTer21
ENST00000646440.2:c.2131_2136delinsA	ENSP00000495830.2:p.Gln711SerfsTer21
ENST00000298552.9:c.2131_2136delinsA MANE Select	ENSP00000298552.3:p.Gln711SerfsTer21
ENST00000642261.1:c.195_200delinsA
ENST00000642617.1:c.2128_2133delinsA	ENSP00000493773.1:p.Gln710SerfsTer21
ENST00000642627.1:c.2113_2118delinsA	ENSP00000496772.1:p.Gln705SerfsTer21
ENST00000642811.1:c.*1901_*1906delinsA	ENSP00000495554.1:n.*1901_*1906delinsA
ENST00000643072.1:c.1978_1983delinsA	ENSP00000496691.1:p.Gln660SerfsTer21
ENST00000643275.1:c.605_610delinsA	ENSP00000495598.1:n.605_610delinsA
ENST00000643583.1:c.2116_2121delinsA	ENSP00000494685.1:p.Gln706SerfsTer21
ENST00000643625.1:c.85+683_85+688delinsA	ENSP00000495546.1:n.85+683_85+688delinsA
ENST00000643875.1:c.2131_2136delinsA	ENSP00000495158.1:p.Gln711SerfsTer21
ENST00000644097.1:c.2128_2133delinsA	ENSP00000494682.1:p.Gln710SerfsTer21
ENST00000644184.1:c.868_873delinsA	ENSP00000495428.1:p.Gln290SerfsTer21
ENST00000644255.1:c.*1898_*1903delinsA	ENSP00000493608.1:n.*1898_*1903delinsA
ENST00000644319.1:n.2506_2511delinsA
ENST00000644882.1:n.1086_1091delinsA
ENST00000645901.1:n.2982_2987delinsA
ENST00000646391.1:c.*1901_*1906delinsA	ENSP00000494104.1:n.*1901_*1906delinsA
ENST00000646625.1:c.2131_2136delinsA	ENSP00000496263.1:p.Gln711SerfsTer21
ENST00000647262.1:n.1096_1101delinsA
ENST00000647279.1:c.*1370_*1375delinsA	ENSP00000494502.1:n.*1370_*1375delinsA
ENST00000647506.1:n.3007_3012delinsA
ENST00000647534.1:n.1195_1200delinsA
ENST00000298552.7:c.2131_2136delinsA	ENSP00000298552.3:p.Gln711SerfsTer21
ENST00000440111.6:c.2131_2136delinsA	ENSP00000394524.2:p.Gln711SerfsTer21
ENST00000545250.5:c.1978_1983delinsA	ENSP00000444017.1:p.Gln660SerfsTer21
NM_000368.4:c.2131_2136delinsA , LRG_486t1:c.2131_2136delinsA	NP_000359.1:p.Gln711SerfsTer21
NM_001162426.1:c.2128_2133delinsA	NP_001155898.1:p.Gln710SerfsTer21
NM_001162427.1:c.1978_1983delinsA	NP_001155899.1:p.Gln660SerfsTer21
XM_005272211.1:c.2131_2136delinsA	XP_005272268.1:p.Gln711SerfsTer21
XM_006717271.1:c.2131_2136delinsA	XP_006717334.1:p.Gln711SerfsTer21
XM_011518979.1:c.2131_2136delinsA	XP_011517281.1:p.Gln711SerfsTer21
NM_001362177.1:c.1768_1773delinsA	NP_001349106.1:p.Gln590SerfsTer21
XM_011518979.2:c.2131_2136delinsA	XP_011517281.1:p.Gln711SerfsTer21
XM_017015096.1:c.2131_2136delinsA	XP_016870585.1:p.Gln711SerfsTer21
XM_017015097.1:c.2131_2136delinsA	XP_016870586.1:p.Gln711SerfsTer21
XM_017015098.1:c.2128_2133delinsA	XP_016870587.1:p.Gln710SerfsTer21
XM_017015100.1:c.1768_1773delinsA	XP_016870589.1:p.Gln590SerfsTer21
XM_017015101.1:c.1765_1770delinsA	XP_016870590.1:p.Gln589SerfsTer21
NM_000368.5:c.2131_2136delinsA MANE Select	NP_000359.1:p.Gln711SerfsTer21
NM_001162426.2:c.2128_2133delinsA	NP_001155898.1:p.Gln710SerfsTer21
NM_001162427.2:c.1978_1983delinsA	NP_001155899.1:p.Gln660SerfsTer21
NM_001362177.2:c.1768_1773delinsA	NP_001349106.1:p.Gln590SerfsTer21