Canonical Allele Identifier: CA2692285399

Gene: TSC1

Linked Data

• gnomAD v4: 9-132900843-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900849dup , CM000671.2:g.132900849dup	GRCh38
NC_000009.11:g.135776236dup , CM000671.1:g.135776236dup	GRCh37
NC_000009.10:g.134766057dup	NCBI36
NG_012386.1:g.48790dup , LRG_486:g.48790dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2500-7dup	ENSP00000496126.2:n.2500-7dup
ENST00000490179.4:c.2503-7dup	ENSP00000495533.2:n.2503-7dup
ENST00000642261.2:c.*282-7dup	ENSP00000494743.2:n.*282-7dup
ENST00000643275.2:c.*443-7dup	ENSP00000495598.2:n.*443-7dup
ENST00000643362.2:c.2116-7dup	ENSP00000496398.2:n.2116-7dup
ENST00000643625.2:c.*245-7dup	ENSP00000495546.2:n.*245-7dup
ENST00000643691.2:c.2140-7dup	ENSP00000494916.2:n.2140-7dup
ENST00000644184.2:c.2461-7dup	ENSP00000495428.2:n.2461-7dup
ENST00000645129.2:c.2347-7dup	ENSP00000493639.2:n.2347-7dup
ENST00000646440.2:c.2503-7dup	ENSP00000495830.2:n.2503-7dup
ENST00000298552.9:c.2503-7dup MANE Select	ENSP00000298552.3:n.2503-7dup
ENST00000642261.1:c.563-7dup
ENST00000642617.1:c.2500-7dup	ENSP00000493773.1:n.2500-7dup
ENST00000642627.1:c.2485-7dup	ENSP00000496772.1:n.2485-7dup
ENST00000642811.1:c.*2273-7dup	ENSP00000495554.1:n.*2273-7dup
ENST00000643072.1:c.2350-7dup	ENSP00000496691.1:n.2350-7dup
ENST00000643275.1:c.977-7dup	ENSP00000495598.1:n.977-7dup
ENST00000643583.1:c.2488-7dup	ENSP00000494685.1:n.2488-7dup
ENST00000643625.1:c.380-7dup	ENSP00000495546.1:n.380-7dup
ENST00000643875.1:c.2503-7dup	ENSP00000495158.1:n.2503-7dup
ENST00000644097.1:c.2500-7dup	ENSP00000494682.1:n.2500-7dup
ENST00000644184.1:c.1198-7dup	ENSP00000495428.1:n.1198-7dup
ENST00000644255.1:c.*2270-7dup	ENSP00000493608.1:n.*2270-7dup
ENST00000644319.1:n.2878-7dup
ENST00000644786.1:n.162-7dup
ENST00000644882.1:n.1416-7dup
ENST00000645901.1:n.3354-7dup
ENST00000646391.1:c.*2273-7dup	ENSP00000494104.1:n.*2273-7dup
ENST00000646625.1:c.2503-7dup	ENSP00000496263.1:n.2503-7dup
ENST00000647262.1:n.1468-7dup
ENST00000647279.1:c.*1742-7dup	ENSP00000494502.1:n.*1742-7dup
ENST00000647506.1:n.3379-7dup
ENST00000647534.1:n.1567-7dup
ENST00000298552.7:c.2503-7dup	ENSP00000298552.3:n.2503-7dup
ENST00000440111.6:c.2503-7dup	ENSP00000394524.2:n.2503-7dup
ENST00000545250.5:c.2350-7dup	ENSP00000444017.1:n.2350-7dup
NM_000368.4:c.2503-7dup , LRG_486t1:c.2503-7dup	NP_000359.1:n.2503-7dup
NM_001162426.1:c.2500-7dup	NP_001155898.1:n.2500-7dup
NM_001162427.1:c.2350-7dup	NP_001155899.1:n.2350-7dup
XM_005272211.1:c.2503-7dup	XP_005272268.1:n.2503-7dup
XM_006717271.1:c.2503-7dup	XP_006717334.1:n.2503-7dup
XM_011518979.1:c.2503-7dup	XP_011517281.1:n.2503-7dup
NM_001362177.1:c.2140-7dup	NP_001349106.1:n.2140-7dup
XM_011518979.2:c.2503-7dup	XP_011517281.1:n.2503-7dup
XM_017015096.1:c.2503-7dup	XP_016870585.1:n.2503-7dup
XM_017015097.1:c.2503-7dup	XP_016870586.1:n.2503-7dup
XM_017015098.1:c.2500-7dup	XP_016870587.1:n.2500-7dup
XM_017015100.1:c.2140-7dup	XP_016870589.1:n.2140-7dup
XM_017015101.1:c.2137-7dup	XP_016870590.1:n.2137-7dup
NM_000368.5:c.2503-7dup MANE Select	NP_000359.1:n.2503-7dup
NM_001162426.2:c.2500-7dup	NP_001155898.1:n.2500-7dup
NM_001162427.2:c.2350-7dup	NP_001155899.1:n.2350-7dup
NM_001362177.2:c.2140-7dup	NP_001349106.1:n.2140-7dup