Canonical Allele Identifier: CA2720686684

Gene: TSC1

Linked Data

• dbSNP Id: rs2131688105

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900804_132900805insAGATACCA , CM000671.2:g.132900804_132900805insAGATACCA	GRCh38
NC_000009.11:g.135776191_135776192insAGATACCA , CM000671.1:g.135776191_135776192insAGATACCA	GRCh37
NC_000009.10:g.134766012_134766013insAGATACCA	NCBI36
NG_012386.1:g.48829_48830insTGGTATCT , LRG_486:g.48829_48830insTGGTATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2532_2533insTGGTATCT	ENSP00000496126.2:p.Glu845TrpfsTer6
ENST00000490179.4:c.2535_2536insTGGTATCT	ENSP00000495533.2:p.Glu846TrpfsTer6
ENST00000642261.2:c.*314_*315insTGGTATCT	ENSP00000494743.2:n.*314_*315insTGGTATCT
ENST00000643275.2:c.*475_*476insTGGTATCT	ENSP00000495598.2:n.*475_*476insTGGTATCT
ENST00000643362.2:c.2148_2149insTGGTATCT	ENSP00000496398.2:p.Glu717TrpfsTer6
ENST00000643625.2:c.*277_*278insTGGTATCT	ENSP00000495546.2:n.*277_*278insTGGTATCT
ENST00000643691.2:c.2172_2173insTGGTATCT	ENSP00000494916.2:p.Glu725TrpfsTer6
ENST00000644184.2:c.2493_2494insTGGTATCT	ENSP00000495428.2:p.Glu832TrpfsTer6
ENST00000645129.2:c.2379_2380insTGGTATCT	ENSP00000493639.2:p.Glu794TrpfsTer6
ENST00000646440.2:c.2535_2536insTGGTATCT	ENSP00000495830.2:p.Glu846TrpfsTer6
ENST00000298552.9:c.2535_2536insTGGTATCT MANE Select	ENSP00000298552.3:p.Glu846TrpfsTer6
ENST00000642261.1:c.595_596insTGGTATCT
ENST00000642617.1:c.2532_2533insTGGTATCT	ENSP00000493773.1:p.Glu845TrpfsTer6
ENST00000642627.1:c.2517_2518insTGGTATCT	ENSP00000496772.1:p.Glu840TrpfsTer6
ENST00000642811.1:c.*2305_*2306insTGGTATCT	ENSP00000495554.1:n.*2305_*2306insTGGTATCT
ENST00000643072.1:c.2382_2383insTGGTATCT	ENSP00000496691.1:p.Glu795TrpfsTer6
ENST00000643275.1:c.1009_1010insTGGTATCT	ENSP00000495598.1:n.1009_1010insTGGTATCT
ENST00000643583.1:c.2520_2521insTGGTATCT	ENSP00000494685.1:p.Glu841TrpfsTer6
ENST00000643625.1:c.412_413insTGGTATCT	ENSP00000495546.1:n.412_413insTGGTATCT
ENST00000643875.1:c.2535_2536insTGGTATCT	ENSP00000495158.1:p.Glu846TrpfsTer6
ENST00000644097.1:c.2532_2533insTGGTATCT	ENSP00000494682.1:p.Glu845TrpfsTer6
ENST00000644184.1:c.1230_1231insTGGTATCT	ENSP00000495428.1:p.Glu411TrpfsTer6
ENST00000644255.1:c.*2302_*2303insTGGTATCT	ENSP00000493608.1:n.*2302_*2303insTGGTATCT
ENST00000644319.1:n.2910_2911insTGGTATCT
ENST00000644786.1:n.194_195insTGGTATCT
ENST00000644882.1:n.1448_1449insTGGTATCT
ENST00000645901.1:n.3386_3387insTGGTATCT
ENST00000646391.1:c.*2305_*2306insTGGTATCT	ENSP00000494104.1:n.*2305_*2306insTGGTATCT
ENST00000646625.1:c.2535_2536insTGGTATCT	ENSP00000496263.1:p.Glu846TrpfsTer6
ENST00000647262.1:n.1500_1501insTGGTATCT
ENST00000647279.1:c.*1774_*1775insTGGTATCT	ENSP00000494502.1:n.*1774_*1775insTGGTATCT
ENST00000647506.1:n.3411_3412insTGGTATCT
ENST00000647534.1:n.1599_1600insTGGTATCT
ENST00000298552.7:c.2535_2536insTGGTATCT	ENSP00000298552.3:p.Glu846TrpfsTer6
ENST00000440111.6:c.2535_2536insTGGTATCT	ENSP00000394524.2:p.Glu846TrpfsTer6
ENST00000545250.5:c.2382_2383insTGGTATCT	ENSP00000444017.1:p.Glu795TrpfsTer6
NM_000368.4:c.2535_2536insTGGTATCT , LRG_486t1:c.2535_2536insTGGTATCT	NP_000359.1:p.Glu846TrpfsTer6
NM_001162426.1:c.2532_2533insTGGTATCT	NP_001155898.1:p.Glu845TrpfsTer6
NM_001162427.1:c.2382_2383insTGGTATCT	NP_001155899.1:p.Glu795TrpfsTer6
XM_005272211.1:c.2535_2536insTGGTATCT	XP_005272268.1:p.Glu846TrpfsTer6
XM_006717271.1:c.2535_2536insTGGTATCT	XP_006717334.1:p.Glu846TrpfsTer6
XM_011518979.1:c.2535_2536insTGGTATCT	XP_011517281.1:p.Glu846TrpfsTer6
NM_001362177.1:c.2172_2173insTGGTATCT	NP_001349106.1:p.Glu725TrpfsTer6
XM_011518979.2:c.2535_2536insTGGTATCT	XP_011517281.1:p.Glu846TrpfsTer6
XM_017015096.1:c.2535_2536insTGGTATCT	XP_016870585.1:p.Glu846TrpfsTer6
XM_017015097.1:c.2535_2536insTGGTATCT	XP_016870586.1:p.Glu846TrpfsTer6
XM_017015098.1:c.2532_2533insTGGTATCT	XP_016870587.1:p.Glu845TrpfsTer6
XM_017015100.1:c.2172_2173insTGGTATCT	XP_016870589.1:p.Glu725TrpfsTer6
XM_017015101.1:c.2169_2170insTGGTATCT	XP_016870590.1:p.Glu724TrpfsTer6
NM_000368.5:c.2535_2536insTGGTATCT MANE Select	NP_000359.1:p.Glu846TrpfsTer6
NM_001162426.2:c.2532_2533insTGGTATCT	NP_001155898.1:p.Glu845TrpfsTer6
NM_001162427.2:c.2382_2383insTGGTATCT	NP_001155899.1:p.Glu795TrpfsTer6
NM_001362177.2:c.2172_2173insTGGTATCT	NP_001349106.1:p.Glu725TrpfsTer6