Canonical Allele Identifier: CA2695203314

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903667dup , CM000671.2:g.132903667dup	GRCh38
NC_000009.11:g.135779054dup , CM000671.1:g.135779054dup	GRCh37
NC_000009.10:g.134768875dup	NCBI36
NG_012386.1:g.45968dup , LRG_486:g.45968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2190dup	ENSP00000496126.2:p.His731ThrfsTer2
ENST00000490179.4:c.2193dup	ENSP00000495533.2:p.His732ThrfsTer2
ENST00000642261.2:c.2193dup	ENSP00000494743.2:p.His732ThrfsTer2
ENST00000643275.2:c.*133dup	ENSP00000495598.2:n.*133dup
ENST00000643362.2:c.1806dup	ENSP00000496398.2:p.His603ThrfsTer2
ENST00000643625.2:c.2041+745dup	ENSP00000495546.2:n.2041+745dup
ENST00000643691.2:c.1830dup	ENSP00000494916.2:p.His611ThrfsTer2
ENST00000644184.2:c.2193dup	ENSP00000495428.2:p.His732ThrfsTer2
ENST00000645129.2:c.2037dup	ENSP00000493639.2:p.His680ThrfsTer2
ENST00000646440.2:c.2193dup	ENSP00000495830.2:p.His732ThrfsTer2
ENST00000298552.9:c.2193dup MANE Select	ENSP00000298552.3:p.His732ThrfsTer2
ENST00000642261.1:c.257dup
ENST00000642617.1:c.2190dup	ENSP00000493773.1:p.His731ThrfsTer2
ENST00000642627.1:c.2175dup	ENSP00000496772.1:p.His726ThrfsTer2
ENST00000642811.1:c.*1963dup	ENSP00000495554.1:n.*1963dup
ENST00000643072.1:c.2040dup	ENSP00000496691.1:p.His681ThrfsTer2
ENST00000643275.1:c.667dup	ENSP00000495598.1:n.667dup
ENST00000643583.1:c.2178dup	ENSP00000494685.1:p.His727ThrfsTer2
ENST00000643625.1:c.85+745dup	ENSP00000495546.1:n.85+745dup
ENST00000643875.1:c.2193dup	ENSP00000495158.1:p.His732ThrfsTer2
ENST00000644097.1:c.2190dup	ENSP00000494682.1:p.His731ThrfsTer2
ENST00000644184.1:c.930dup	ENSP00000495428.1:p.His311ThrfsTer2
ENST00000644255.1:c.*1960dup	ENSP00000493608.1:n.*1960dup
ENST00000644319.1:n.2568dup
ENST00000644882.1:n.1148dup
ENST00000645901.1:n.3044dup
ENST00000646391.1:c.*1963dup	ENSP00000494104.1:n.*1963dup
ENST00000646625.1:c.2193dup	ENSP00000496263.1:p.His732ThrfsTer2
ENST00000647262.1:n.1158dup
ENST00000647279.1:c.*1432dup	ENSP00000494502.1:n.*1432dup
ENST00000647506.1:n.3069dup
ENST00000647534.1:n.1257dup
ENST00000298552.7:c.2193dup	ENSP00000298552.3:p.His732ThrfsTer2
ENST00000440111.6:c.2193dup	ENSP00000394524.2:p.His732ThrfsTer2
ENST00000545250.5:c.2040dup	ENSP00000444017.1:p.His681ThrfsTer2
NM_000368.4:c.2193dup , LRG_486t1:c.2193dup	NP_000359.1:p.His732ThrfsTer2
NM_001162426.1:c.2190dup	NP_001155898.1:p.His731ThrfsTer2
NM_001162427.1:c.2040dup	NP_001155899.1:p.His681ThrfsTer2
XM_005272211.1:c.2193dup	XP_005272268.1:p.His732ThrfsTer2
XM_006717271.1:c.2193dup	XP_006717334.1:p.His732ThrfsTer2
XM_011518979.1:c.2193dup	XP_011517281.1:p.His732ThrfsTer2
NM_001362177.1:c.1830dup	NP_001349106.1:p.His611ThrfsTer2
XM_011518979.2:c.2193dup	XP_011517281.1:p.His732ThrfsTer2
XM_017015096.1:c.2193dup	XP_016870585.1:p.His732ThrfsTer2
XM_017015097.1:c.2193dup	XP_016870586.1:p.His732ThrfsTer2
XM_017015098.1:c.2190dup	XP_016870587.1:p.His731ThrfsTer2
XM_017015100.1:c.1830dup	XP_016870589.1:p.His611ThrfsTer2
XM_017015101.1:c.1827dup	XP_016870590.1:p.His610ThrfsTer2
NM_000368.5:c.2193dup MANE Select	NP_000359.1:p.His732ThrfsTer2
NM_001162426.2:c.2190dup	NP_001155898.1:p.His731ThrfsTer2
NM_001162427.2:c.2040dup	NP_001155899.1:p.His681ThrfsTer2
NM_001362177.2:c.1830dup	NP_001349106.1:p.His611ThrfsTer2