Canonical Allele Identifier: CA1882406157

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900821_132900825delinsGACTC , CM000671.2:g.132900821_132900825delinsGACTC	GRCh38
NC_000009.11:g.135776208_135776212delinsGACTC , CM000671.1:g.135776208_135776212delinsGACTC	GRCh37
NC_000009.10:g.134766029_134766033delinsGACTC	NCBI36
NG_012386.1:g.48809_48813delinsGAGTC , LRG_486:g.48809_48813delinsGAGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2512_2516delinsGAGTC	ENSP00000496126.2:p.Glu838=
ENST00000490179.4:c.2515_2519delinsGAGTC	ENSP00000495533.2:p.Glu839=
ENST00000642261.2:c.*294_*298delinsGAGTC	ENSP00000494743.2:n.*294_*298delinsGAGTC
ENST00000643275.2:c.*455_*459delinsGAGTC	ENSP00000495598.2:n.*455_*459delinsGAGTC
ENST00000643362.2:c.2128_2132delinsGAGTC	ENSP00000496398.2:p.Glu710=
ENST00000643625.2:c.*257_*261delinsGAGTC	ENSP00000495546.2:n.*257_*261delinsGAGTC
ENST00000643691.2:c.2152_2156delinsGAGTC	ENSP00000494916.2:p.Glu718=
ENST00000644184.2:c.2473_2477delinsGAGTC	ENSP00000495428.2:p.Glu825=
ENST00000645129.2:c.2359_2363delinsGAGTC	ENSP00000493639.2:p.Glu787=
ENST00000646440.2:c.2515_2519delinsGAGTC	ENSP00000495830.2:p.Glu839=
ENST00000298552.9:c.2515_2519delinsGAGTC MANE Select	ENSP00000298552.3:p.Glu839=
ENST00000642261.1:c.575_579delinsGAGTC
ENST00000642617.1:c.2512_2516delinsGAGTC	ENSP00000493773.1:p.Glu838=
ENST00000642627.1:c.2497_2501delinsGAGTC	ENSP00000496772.1:p.Glu833=
ENST00000642811.1:c.*2285_*2289delinsGAGTC	ENSP00000495554.1:n.*2285_*2289delinsGAGTC
ENST00000643072.1:c.2362_2366delinsGAGTC	ENSP00000496691.1:p.Glu788=
ENST00000643275.1:c.989_993delinsGAGTC	ENSP00000495598.1:n.989_993delinsGAGTC
ENST00000643583.1:c.2500_2504delinsGAGTC	ENSP00000494685.1:p.Glu834=
ENST00000643625.1:c.392_396delinsGAGTC	ENSP00000495546.1:n.392_396delinsGAGTC
ENST00000643875.1:c.2515_2519delinsGAGTC	ENSP00000495158.1:p.Glu839=
ENST00000644097.1:c.2512_2516delinsGAGTC	ENSP00000494682.1:p.Glu838=
ENST00000644184.1:c.1210_1214delinsGAGTC	ENSP00000495428.1:p.Glu404=
ENST00000644255.1:c.*2282_*2286delinsGAGTC	ENSP00000493608.1:n.*2282_*2286delinsGAGTC
ENST00000644319.1:n.2890_2894delinsGAGTC
ENST00000644786.1:n.174_178delinsGAGTC
ENST00000644882.1:n.1428_1432delinsGAGTC
ENST00000645901.1:n.3366_3370delinsGAGTC
ENST00000646391.1:c.*2285_*2289delinsGAGTC	ENSP00000494104.1:n.*2285_*2289delinsGAGTC
ENST00000646625.1:c.2515_2519delinsGAGTC	ENSP00000496263.1:p.Glu839=
ENST00000647262.1:n.1480_1484delinsGAGTC
ENST00000647279.1:c.*1754_*1758delinsGAGTC	ENSP00000494502.1:n.*1754_*1758delinsGAGTC
ENST00000647506.1:n.3391_3395delinsGAGTC
ENST00000647534.1:n.1579_1583delinsGAGTC
ENST00000298552.7:c.2515_2519delinsGAGTC	ENSP00000298552.3:p.Glu839=
ENST00000440111.6:c.2515_2519delinsGAGTC	ENSP00000394524.2:p.Glu839=
ENST00000545250.5:c.2362_2366delinsGAGTC	ENSP00000444017.1:p.Glu788=
NM_000368.4:c.2515_2519delinsGAGTC , LRG_486t1:c.2515_2519delinsGAGTC	NP_000359.1:p.Glu839=
NM_001162426.1:c.2512_2516delinsGAGTC	NP_001155898.1:p.Glu838=
NM_001162427.1:c.2362_2366delinsGAGTC	NP_001155899.1:p.Glu788=
XM_005272211.1:c.2515_2519delinsGAGTC	XP_005272268.1:p.Glu839=
XM_006717271.1:c.2515_2519delinsGAGTC	XP_006717334.1:p.Glu839=
XM_011518979.1:c.2515_2519delinsGAGTC	XP_011517281.1:p.Glu839=
NM_001362177.1:c.2152_2156delinsGAGTC	NP_001349106.1:p.Glu718=
XM_011518979.2:c.2515_2519delinsGAGTC	XP_011517281.1:p.Glu839=
XM_017015096.1:c.2515_2519delinsGAGTC	XP_016870585.1:p.Glu839=
XM_017015097.1:c.2515_2519delinsGAGTC	XP_016870586.1:p.Glu839=
XM_017015098.1:c.2512_2516delinsGAGTC	XP_016870587.1:p.Glu838=
XM_017015100.1:c.2152_2156delinsGAGTC	XP_016870589.1:p.Glu718=
XM_017015101.1:c.2149_2153delinsGAGTC	XP_016870590.1:p.Glu717=
NM_000368.5:c.2515_2519delinsGAGTC MANE Select	NP_000359.1:p.Glu839=
NM_001162426.2:c.2512_2516delinsGAGTC	NP_001155898.1:p.Glu838=
NM_001162427.2:c.2362_2366delinsGAGTC	NP_001155899.1:p.Glu788=
NM_001362177.2:c.2152_2156delinsGAGTC	NP_001349106.1:p.Glu718=