Canonical Allele Identifier: CA1882417582

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132911579_132911582delinsAGAG , CM000671.2:g.132911579_132911582delinsAGAG	GRCh38
NC_000009.11:g.135786966_135786969delinsAGAG , CM000671.1:g.135786966_135786969delinsAGAG	GRCh37
NC_000009.10:g.134776787_134776790delinsAGAG	NCBI36
NG_012386.1:g.38052_38055delinsCTCT , LRG_486:g.38052_38055delinsCTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.914-14_914-11delinsCTCT	ENSP00000496126.2:n.914-14_914-11delinsCT...
ENST00000490179.4:c.914-14_914-11delinsCTCT	ENSP00000495533.2:n.914-14_914-11delinsCT...
ENST00000642261.2:c.914-14_914-11delinsCTCT	ENSP00000494743.2:n.914-14_914-11delinsCT...
ENST00000643275.2:c.914-14_914-11delinsCTCT	ENSP00000495598.2:n.914-14_914-11delinsCT...
ENST00000643362.2:c.761-14_761-11delinsCTCT	ENSP00000496398.2:n.761-14_761-11delinsCT...
ENST00000643625.2:c.914-14_914-11delinsCTCT	ENSP00000495546.2:n.914-14_914-11delinsCT...
ENST00000643691.2:c.551-14_551-11delinsCTCT	ENSP00000494916.2:n.551-14_551-11delinsCT...
ENST00000644184.2:c.914-14_914-11delinsCTCT	ENSP00000495428.2:n.914-14_914-11delinsCT...
ENST00000645129.2:c.761-14_761-11delinsCTCT	ENSP00000493639.2:n.761-14_761-11delinsCT...
ENST00000646440.2:c.914-14_914-11delinsCTCT	ENSP00000495830.2:n.914-14_914-11delinsCT...
ENST00000647078.2:c.914-14_914-11delinsCTCT	ENSP00000496066.1:n.914-14_914-11delinsCT...
ENST00000298552.9:c.914-14_914-11delinsCTCT MANE Select	ENSP00000298552.3:n.914-14_914-11delinsCT...
ENST00000403810.6:c.914-14_914-11delinsCTCT	ENSP00000386093.1:n.914-14_914-11delinsCT...
ENST00000493467.6:n.188-14_188-11delinsCTCT
ENST00000642344.1:c.*655-14_*655-11delinsCTCT	ENSP00000494847.1:n.*655-14_*655-11delins...
ENST00000642617.1:c.914-14_914-11delinsCTCT	ENSP00000493773.1:n.914-14_914-11delinsCT...
ENST00000642627.1:c.914-14_914-11delinsCTCT	ENSP00000496772.1:n.914-14_914-11delinsCT...
ENST00000642646.1:c.914-14_914-11delinsCTCT	ENSP00000496292.1:n.914-14_914-11delinsCT...
ENST00000642745.1:c.914-14_914-11delinsCTCT	ENSP00000493963.1:n.914-14_914-11delinsCT...
ENST00000642811.1:c.*684-14_*684-11delinsCTCT	ENSP00000495554.1:n.*684-14_*684-11delins...
ENST00000642854.1:c.*699-14_*699-11delinsCTCT	ENSP00000494639.1:n.*699-14_*699-11delins...
ENST00000643072.1:c.761-14_761-11delinsCTCT	ENSP00000496691.1:n.761-14_761-11delinsCT...
ENST00000643362.1:c.761-14_761-11delinsCTCT	ENSP00000496398.1:n.761-14_761-11delinsCT...
ENST00000643583.1:c.914-14_914-11delinsCTCT	ENSP00000494685.1:n.914-14_914-11delinsCT...
ENST00000643691.1:c.551-14_551-11delinsCTCT	ENSP00000494916.1:n.551-14_551-11delinsCT...
ENST00000643875.1:c.914-14_914-11delinsCTCT	ENSP00000495158.1:n.914-14_914-11delinsCT...
ENST00000644097.1:c.914-14_914-11delinsCTCT	ENSP00000494682.1:n.914-14_914-11delinsCT...
ENST00000644255.1:c.*684-14_*684-11delinsCTCT	ENSP00000493608.1:n.*684-14_*684-11delins...
ENST00000644319.1:n.641-14_641-11delinsCTCT
ENST00000644997.1:c.*571-14_*571-11delinsCTCT	ENSP00000495654.1:n.*571-14_*571-11delins...
ENST00000645129.1:c.761-14_761-11delinsCTCT	ENSP00000493639.1:n.761-14_761-11delinsCT...
ENST00000645150.1:c.914-14_914-11delinsCTCT	ENSP00000494365.1:n.914-14_914-11delinsCT...
ENST00000645901.1:n.1117-14_1117-11delinsCTCT
ENST00000646391.1:c.*684-14_*684-11delinsCTCT	ENSP00000494104.1:n.*684-14_*684-11delins...
ENST00000646625.1:c.914-14_914-11delinsCTCT	ENSP00000496263.1:n.914-14_914-11delinsCT...
ENST00000647078.1:c.914-14_914-11delinsCTCT	ENSP00000496066.1:n.914-14_914-11delinsCT...
ENST00000647279.1:c.*153-14_*153-11delinsCTCT	ENSP00000494502.1:n.*153-14_*153-11delins...
ENST00000647462.1:c.914-14_914-11delinsCTCT	ENSP00000495821.1:n.914-14_914-11delinsCT...
ENST00000647506.1:n.1142-14_1142-11delinsCTCT
ENST00000298552.7:c.914-14_914-11delinsCTCT	ENSP00000298552.3:n.914-14_914-11delinsCT...
ENST00000403810.5:c.914-14_914-11delinsCTCT	ENSP00000386093.1:n.914-14_914-11delinsCT...
ENST00000440111.6:c.914-14_914-11delinsCTCT	ENSP00000394524.2:n.914-14_914-11delinsCT...
ENST00000493467.5:n.1110-14_1110-11delinsCTCT
ENST00000545250.5:c.761-14_761-11delinsCTCT	ENSP00000444017.1:n.761-14_761-11delinsCT...
NM_000368.4:c.914-14_914-11delinsCTCT , LRG_486t1:c.914-14_914-11delinsCTCT	NP_000359.1:n.914-14_914-11delinsCTCT
NM_001162426.1:c.914-14_914-11delinsCTCT	NP_001155898.1:n.914-14_914-11delinsCTCT
NM_001162427.1:c.761-14_761-11delinsCTCT	NP_001155899.1:n.761-14_761-11delinsCTCT
XM_005272211.1:c.914-14_914-11delinsCTCT	XP_005272268.1:n.914-14_914-11delinsCTCT
XM_006717271.1:c.914-14_914-11delinsCTCT	XP_006717334.1:n.914-14_914-11delinsCTCT
XM_006717272.2:c.914-14_914-11delinsCTCT	XP_006717335.1:n.914-14_914-11delinsCTCT
XM_011518979.1:c.914-14_914-11delinsCTCT	XP_011517281.1:n.914-14_914-11delinsCTCT
NM_001362177.1:c.551-14_551-11delinsCTCT	NP_001349106.1:n.551-14_551-11delinsCTCT
XM_011518979.2:c.914-14_914-11delinsCTCT	XP_011517281.1:n.914-14_914-11delinsCTCT
XM_017015096.1:c.914-14_914-11delinsCTCT	XP_016870585.1:n.914-14_914-11delinsCTCT
XM_017015097.1:c.914-14_914-11delinsCTCT	XP_016870586.1:n.914-14_914-11delinsCTCT
XM_017015098.1:c.914-14_914-11delinsCTCT	XP_016870587.1:n.914-14_914-11delinsCTCT
XM_017015100.1:c.551-14_551-11delinsCTCT	XP_016870589.1:n.551-14_551-11delinsCTCT
XM_017015101.1:c.551-14_551-11delinsCTCT	XP_016870590.1:n.551-14_551-11delinsCTCT
NM_000368.5:c.914-14_914-11delinsCTCT MANE Select	NP_000359.1:n.914-14_914-11delinsCTCT
NM_001162426.2:c.914-14_914-11delinsCTCT	NP_001155898.1:n.914-14_914-11delinsCTCT
NM_001162427.2:c.761-14_761-11delinsCTCT	NP_001155899.1:n.761-14_761-11delinsCTCT
NM_001362177.2:c.551-14_551-11delinsCTCT	NP_001349106.1:n.551-14_551-11delinsCTCT