Canonical Allele Identifier: CA1129704611

Gene: TSC1

Linked Data

• gnomAD v3: 9-132900330-G-GA
• gnomAD v4: 9-132900330-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900330_132900331insA , CM000671.2:g.132900330_132900331insA	GRCh38
NC_000009.11:g.135775717_135775718insA , CM000671.1:g.135775717_135775718insA	GRCh37
NC_000009.10:g.134765538_134765539insA	NCBI36
NG_012386.1:g.49303_49304insT , LRG_486:g.49303_49304insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2622+384_2622+385insT	ENSP00000496126.2:n.2622+384_2622+385insT
ENST00000490179.4:c.2625+384_2625+385insT	ENSP00000495533.2:n.2625+384_2625+385insT
ENST00000642261.2:c.*404+384_*404+385insT	ENSP00000494743.2:n.*404+384_*404+385insT
ENST00000643275.2:c.*565+384_*565+385insT	ENSP00000495598.2:n.*565+384_*565+385insT
ENST00000643362.2:c.2238+384_2238+385insT	ENSP00000496398.2:n.2238+384_2238+385insT
ENST00000643625.2:c.*367+384_*367+385insT	ENSP00000495546.2:n.*367+384_*367+385insT
ENST00000643691.2:c.2262+384_2262+385insT	ENSP00000494916.2:n.2262+384_2262+385insT
ENST00000644184.2:c.2583+384_2583+385insT	ENSP00000495428.2:n.2583+384_2583+385insT
ENST00000645129.2:c.2469+384_2469+385insT	ENSP00000493639.2:n.2469+384_2469+385insT
ENST00000646440.2:c.2625+384_2625+385insT	ENSP00000495830.2:n.2625+384_2625+385insT
ENST00000298552.9:c.2625+384_2625+385insT MANE Select	ENSP00000298552.3:n.2625+384_2625+385insT
ENST00000642261.1:c.685+384_685+385insT
ENST00000642617.1:c.2622+384_2622+385insT	ENSP00000493773.1:n.2622+384_2622+385insT
ENST00000642627.1:c.2607+384_2607+385insT	ENSP00000496772.1:n.2607+384_2607+385insT
ENST00000642811.1:c.*2395+384_*2395+385insT	ENSP00000495554.1:n.*2395+384_*2395+385insT
ENST00000643072.1:c.2472+384_2472+385insT	ENSP00000496691.1:n.2472+384_2472+385insT
ENST00000643275.1:c.1099+384_1099+385insT	ENSP00000495598.1:n.1099+384_1099+385insT
ENST00000643583.1:c.2610+384_2610+385insT	ENSP00000494685.1:n.2610+384_2610+385insT
ENST00000643625.1:c.502+384_502+385insT	ENSP00000495546.1:n.502+384_502+385insT
ENST00000643875.1:c.2625+384_2625+385insT	ENSP00000495158.1:n.2625+384_2625+385insT
ENST00000644097.1:c.2622+384_2622+385insT	ENSP00000494682.1:n.2622+384_2622+385insT
ENST00000644184.1:c.1320+384_1320+385insT	ENSP00000495428.1:n.1320+384_1320+385insT
ENST00000644255.1:c.*2392+384_*2392+385insT	ENSP00000493608.1:n.*2392+384_*2392+385insT
ENST00000644319.1:n.3000+384_3000+385insT
ENST00000644786.1:n.284+384_284+385insT
ENST00000644882.1:n.1538+384_1538+385insT
ENST00000645901.1:n.3476+384_3476+385insT
ENST00000646391.1:c.*2395+384_*2395+385insT	ENSP00000494104.1:n.*2395+384_*2395+385insT
ENST00000646625.1:c.2625+384_2625+385insT	ENSP00000496263.1:n.2625+384_2625+385insT
ENST00000647262.1:n.1590+384_1590+385insT
ENST00000647279.1:c.*1864+384_*1864+385insT	ENSP00000494502.1:n.*1864+384_*1864+385insT
ENST00000647506.1:n.3885_3886insT
ENST00000647534.1:n.1689+384_1689+385insT
ENST00000298552.7:c.2625+384_2625+385insT	ENSP00000298552.3:n.2625+384_2625+385insT
ENST00000440111.6:c.2625+384_2625+385insT	ENSP00000394524.2:n.2625+384_2625+385insT
ENST00000545250.5:c.2472+384_2472+385insT	ENSP00000444017.1:n.2472+384_2472+385insT
NM_000368.4:c.2625+384_2625+385insT , LRG_486t1:c.2625+384_2625+385insT	NP_000359.1:n.2625+384_2625+385insT
NM_001162426.1:c.2622+384_2622+385insT	NP_001155898.1:n.2622+384_2622+385insT
NM_001162427.1:c.2472+384_2472+385insT	NP_001155899.1:n.2472+384_2472+385insT
XM_005272211.1:c.2625+384_2625+385insT	XP_005272268.1:n.2625+384_2625+385insT
XM_006717271.1:c.2625+384_2625+385insT	XP_006717334.1:n.2625+384_2625+385insT
XM_011518979.1:c.2625+384_2625+385insT	XP_011517281.1:n.2625+384_2625+385insT
NM_001362177.1:c.2262+384_2262+385insT	NP_001349106.1:n.2262+384_2262+385insT
XM_011518979.2:c.2625+384_2625+385insT	XP_011517281.1:n.2625+384_2625+385insT
XM_017015096.1:c.2625+384_2625+385insT	XP_016870585.1:n.2625+384_2625+385insT
XM_017015097.1:c.2625+384_2625+385insT	XP_016870586.1:n.2625+384_2625+385insT
XM_017015098.1:c.2622+384_2622+385insT	XP_016870587.1:n.2622+384_2622+385insT
XM_017015100.1:c.2262+384_2262+385insT	XP_016870589.1:n.2262+384_2262+385insT
XM_017015101.1:c.2259+384_2259+385insT	XP_016870590.1:n.2259+384_2259+385insT
NM_000368.5:c.2625+384_2625+385insT MANE Select	NP_000359.1:n.2625+384_2625+385insT
NM_001162426.2:c.2622+384_2622+385insT	NP_001155898.1:n.2622+384_2622+385insT
NM_001162427.2:c.2472+384_2472+385insT	NP_001155899.1:n.2472+384_2472+385insT
NM_001362177.2:c.2262+384_2262+385insT	NP_001349106.1:n.2262+384_2262+385insT