Canonical Allele Identifier: CA2692284951

Gene: TSC1

Linked Data

• gnomAD v4: 9-132900492-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900492_132900493insT , CM000671.2:g.132900492_132900493insT	GRCh38
NC_000009.11:g.135775879_135775880insT , CM000671.1:g.135775879_135775880insT	GRCh37
NC_000009.10:g.134765700_134765701insT	NCBI36
NG_012386.1:g.49141_49142insA , LRG_486:g.49141_49142insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2622+222_2622+223insA	ENSP00000496126.2:n.2622+222_2622+223insA
ENST00000490179.4:c.2625+222_2625+223insA	ENSP00000495533.2:n.2625+222_2625+223insA
ENST00000642261.2:c.*404+222_*404+223insA	ENSP00000494743.2:n.*404+222_*404+223insA
ENST00000643275.2:c.*565+222_*565+223insA	ENSP00000495598.2:n.*565+222_*565+223insA
ENST00000643362.2:c.2238+222_2238+223insA	ENSP00000496398.2:n.2238+222_2238+223insA
ENST00000643625.2:c.*367+222_*367+223insA	ENSP00000495546.2:n.*367+222_*367+223insA
ENST00000643691.2:c.2262+222_2262+223insA	ENSP00000494916.2:n.2262+222_2262+223insA
ENST00000644184.2:c.2583+222_2583+223insA	ENSP00000495428.2:n.2583+222_2583+223insA
ENST00000645129.2:c.2469+222_2469+223insA	ENSP00000493639.2:n.2469+222_2469+223insA
ENST00000646440.2:c.2625+222_2625+223insA	ENSP00000495830.2:n.2625+222_2625+223insA
ENST00000298552.9:c.2625+222_2625+223insA MANE Select	ENSP00000298552.3:n.2625+222_2625+223insA
ENST00000642261.1:c.685+222_685+223insA
ENST00000642617.1:c.2622+222_2622+223insA	ENSP00000493773.1:n.2622+222_2622+223insA
ENST00000642627.1:c.2607+222_2607+223insA	ENSP00000496772.1:n.2607+222_2607+223insA
ENST00000642811.1:c.*2395+222_*2395+223insA	ENSP00000495554.1:n.*2395+222_*2395+223insA
ENST00000643072.1:c.2472+222_2472+223insA	ENSP00000496691.1:n.2472+222_2472+223insA
ENST00000643275.1:c.1099+222_1099+223insA	ENSP00000495598.1:n.1099+222_1099+223insA
ENST00000643583.1:c.2610+222_2610+223insA	ENSP00000494685.1:n.2610+222_2610+223insA
ENST00000643625.1:c.502+222_502+223insA	ENSP00000495546.1:n.502+222_502+223insA
ENST00000643875.1:c.2625+222_2625+223insA	ENSP00000495158.1:n.2625+222_2625+223insA
ENST00000644097.1:c.2622+222_2622+223insA	ENSP00000494682.1:n.2622+222_2622+223insA
ENST00000644184.1:c.1320+222_1320+223insA	ENSP00000495428.1:n.1320+222_1320+223insA
ENST00000644255.1:c.*2392+222_*2392+223insA	ENSP00000493608.1:n.*2392+222_*2392+223insA
ENST00000644319.1:n.3000+222_3000+223insA
ENST00000644786.1:n.284+222_284+223insA
ENST00000644882.1:n.1538+222_1538+223insA
ENST00000645901.1:n.3476+222_3476+223insA
ENST00000646391.1:c.*2395+222_*2395+223insA	ENSP00000494104.1:n.*2395+222_*2395+223insA
ENST00000646625.1:c.2625+222_2625+223insA	ENSP00000496263.1:n.2625+222_2625+223insA
ENST00000647262.1:n.1590+222_1590+223insA
ENST00000647279.1:c.*1864+222_*1864+223insA	ENSP00000494502.1:n.*1864+222_*1864+223insA
ENST00000647506.1:n.3723_3724insA
ENST00000647534.1:n.1689+222_1689+223insA
ENST00000298552.7:c.2625+222_2625+223insA	ENSP00000298552.3:n.2625+222_2625+223insA
ENST00000440111.6:c.2625+222_2625+223insA	ENSP00000394524.2:n.2625+222_2625+223insA
ENST00000545250.5:c.2472+222_2472+223insA	ENSP00000444017.1:n.2472+222_2472+223insA
NM_000368.4:c.2625+222_2625+223insA , LRG_486t1:c.2625+222_2625+223insA	NP_000359.1:n.2625+222_2625+223insA
NM_001162426.1:c.2622+222_2622+223insA	NP_001155898.1:n.2622+222_2622+223insA
NM_001162427.1:c.2472+222_2472+223insA	NP_001155899.1:n.2472+222_2472+223insA
XM_005272211.1:c.2625+222_2625+223insA	XP_005272268.1:n.2625+222_2625+223insA
XM_006717271.1:c.2625+222_2625+223insA	XP_006717334.1:n.2625+222_2625+223insA
XM_011518979.1:c.2625+222_2625+223insA	XP_011517281.1:n.2625+222_2625+223insA
NM_001362177.1:c.2262+222_2262+223insA	NP_001349106.1:n.2262+222_2262+223insA
XM_011518979.2:c.2625+222_2625+223insA	XP_011517281.1:n.2625+222_2625+223insA
XM_017015096.1:c.2625+222_2625+223insA	XP_016870585.1:n.2625+222_2625+223insA
XM_017015097.1:c.2625+222_2625+223insA	XP_016870586.1:n.2625+222_2625+223insA
XM_017015098.1:c.2622+222_2622+223insA	XP_016870587.1:n.2622+222_2622+223insA
XM_017015100.1:c.2262+222_2262+223insA	XP_016870589.1:n.2262+222_2262+223insA
XM_017015101.1:c.2259+222_2259+223insA	XP_016870590.1:n.2259+222_2259+223insA
NM_000368.5:c.2625+222_2625+223insA MANE Select	NP_000359.1:n.2625+222_2625+223insA
NM_001162426.2:c.2622+222_2622+223insA	NP_001155898.1:n.2622+222_2622+223insA
NM_001162427.2:c.2472+222_2472+223insA	NP_001155899.1:n.2472+222_2472+223insA
NM_001362177.2:c.2262+222_2262+223insA	NP_001349106.1:n.2262+222_2262+223insA