Canonical Allele Identifier: CA1882405926

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900757_132900758delinsGA , CM000671.2:g.132900757_132900758delinsGA	GRCh38
NC_000009.11:g.135776144_135776145delinsGA , CM000671.1:g.135776144_135776145delinsGA	GRCh37
NC_000009.10:g.134765965_134765966delinsGA	NCBI36
NG_012386.1:g.48876_48877delinsTC , LRG_486:g.48876_48877delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2579_2580delinsTC	ENSP00000496126.2:p.Leu860=
ENST00000490179.4:c.2582_2583delinsTC	ENSP00000495533.2:p.Leu861=
ENST00000642261.2:c.*361_*362delinsTC	ENSP00000494743.2:n.*361_*362delinsTC
ENST00000643275.2:c.*522_*523delinsTC	ENSP00000495598.2:n.*522_*523delinsTC
ENST00000643362.2:c.2195_2196delinsTC	ENSP00000496398.2:p.Leu732=
ENST00000643625.2:c.*324_*325delinsTC	ENSP00000495546.2:n.*324_*325delinsTC
ENST00000643691.2:c.2219_2220delinsTC	ENSP00000494916.2:p.Leu740=
ENST00000644184.2:c.2540_2541delinsTC	ENSP00000495428.2:p.Leu847=
ENST00000645129.2:c.2426_2427delinsTC	ENSP00000493639.2:p.Leu809=
ENST00000646440.2:c.2582_2583delinsTC	ENSP00000495830.2:p.Leu861=
ENST00000298552.9:c.2582_2583delinsTC MANE Select	ENSP00000298552.3:p.Leu861=
ENST00000642261.1:c.642_643delinsTC
ENST00000642617.1:c.2579_2580delinsTC	ENSP00000493773.1:p.Leu860=
ENST00000642627.1:c.2564_2565delinsTC	ENSP00000496772.1:p.Leu855=
ENST00000642811.1:c.*2352_*2353delinsTC	ENSP00000495554.1:n.*2352_*2353delinsTC
ENST00000643072.1:c.2429_2430delinsTC	ENSP00000496691.1:p.Leu810=
ENST00000643275.1:c.1056_1057delinsTC	ENSP00000495598.1:n.1056_1057delinsTC
ENST00000643583.1:c.2567_2568delinsTC	ENSP00000494685.1:p.Leu856=
ENST00000643625.1:c.459_460delinsTC	ENSP00000495546.1:n.459_460delinsTC
ENST00000643875.1:c.2582_2583delinsTC	ENSP00000495158.1:p.Leu861=
ENST00000644097.1:c.2579_2580delinsTC	ENSP00000494682.1:p.Leu860=
ENST00000644184.1:c.1277_1278delinsTC	ENSP00000495428.1:p.Leu426=
ENST00000644255.1:c.*2349_*2350delinsTC	ENSP00000493608.1:n.*2349_*2350delinsTC
ENST00000644319.1:n.2957_2958delinsTC
ENST00000644786.1:n.241_242delinsTC
ENST00000644882.1:n.1495_1496delinsTC
ENST00000645901.1:n.3433_3434delinsTC
ENST00000646391.1:c.*2352_*2353delinsTC	ENSP00000494104.1:n.*2352_*2353delinsTC
ENST00000646625.1:c.2582_2583delinsTC	ENSP00000496263.1:p.Leu861=
ENST00000647262.1:n.1547_1548delinsTC
ENST00000647279.1:c.*1821_*1822delinsTC	ENSP00000494502.1:n.*1821_*1822delinsTC
ENST00000647506.1:n.3458_3459delinsTC
ENST00000647534.1:n.1646_1647delinsTC
ENST00000298552.7:c.2582_2583delinsTC	ENSP00000298552.3:p.Leu861=
ENST00000440111.6:c.2582_2583delinsTC	ENSP00000394524.2:p.Leu861=
ENST00000545250.5:c.2429_2430delinsTC	ENSP00000444017.1:p.Leu810=
NM_000368.4:c.2582_2583delinsTC , LRG_486t1:c.2582_2583delinsTC	NP_000359.1:p.Leu861=
NM_001162426.1:c.2579_2580delinsTC	NP_001155898.1:p.Leu860=
NM_001162427.1:c.2429_2430delinsTC	NP_001155899.1:p.Leu810=
XM_005272211.1:c.2582_2583delinsTC	XP_005272268.1:p.Leu861=
XM_006717271.1:c.2582_2583delinsTC	XP_006717334.1:p.Leu861=
XM_011518979.1:c.2582_2583delinsTC	XP_011517281.1:p.Leu861=
NM_001362177.1:c.2219_2220delinsTC	NP_001349106.1:p.Leu740=
XM_011518979.2:c.2582_2583delinsTC	XP_011517281.1:p.Leu861=
XM_017015096.1:c.2582_2583delinsTC	XP_016870585.1:p.Leu861=
XM_017015097.1:c.2582_2583delinsTC	XP_016870586.1:p.Leu861=
XM_017015098.1:c.2579_2580delinsTC	XP_016870587.1:p.Leu860=
XM_017015100.1:c.2219_2220delinsTC	XP_016870589.1:p.Leu740=
XM_017015101.1:c.2216_2217delinsTC	XP_016870590.1:p.Leu739=
NM_000368.5:c.2582_2583delinsTC MANE Select	NP_000359.1:p.Leu861=
NM_001162426.2:c.2579_2580delinsTC	NP_001155898.1:p.Leu860=
NM_001162427.2:c.2429_2430delinsTC	NP_001155899.1:p.Leu810=
NM_001362177.2:c.2219_2220delinsTC	NP_001349106.1:p.Leu740=