Canonical Allele Identifier: CA1882405225

Gene: TSC1

Linked Data

• dbSNP Id: rs1845295459

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900220_132900232del , CM000671.2:g.132900220_132900232del	GRCh38
NC_000009.11:g.135775607_135775619del , CM000671.1:g.135775607_135775619del	GRCh37
NC_000009.10:g.134765428_134765440del	NCBI36
NG_012386.1:g.49403_49415del , LRG_486:g.49403_49415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2622+484_2622+496del	ENSP00000496126.2:n.2622+484_2622+496del
ENST00000490179.4:c.2625+484_2625+496del	ENSP00000495533.2:n.2625+484_2625+496del
ENST00000642261.2:c.*404+484_*404+496del	ENSP00000494743.2:n.*404+484_*404+496del
ENST00000643275.2:c.*565+484_*565+496del	ENSP00000495598.2:n.*565+484_*565+496del
ENST00000643362.2:c.2238+484_2238+496del	ENSP00000496398.2:n.2238+484_2238+496del
ENST00000643625.2:c.*367+484_*367+496del	ENSP00000495546.2:n.*367+484_*367+496del
ENST00000643691.2:c.2262+484_2262+496del	ENSP00000494916.2:n.2262+484_2262+496del
ENST00000644184.2:c.2583+484_2583+496del	ENSP00000495428.2:n.2583+484_2583+496del
ENST00000645129.2:c.2469+484_2469+496del	ENSP00000493639.2:n.2469+484_2469+496del
ENST00000646440.2:c.2625+484_2625+496del	ENSP00000495830.2:n.2625+484_2625+496del
ENST00000298552.9:c.2625+484_2625+496del MANE Select	ENSP00000298552.3:n.2625+484_2625+496del
ENST00000642261.1:c.685+484_685+496del
ENST00000642617.1:c.2622+484_2622+496del	ENSP00000493773.1:n.2622+484_2622+496del
ENST00000642627.1:c.2607+484_2607+496del	ENSP00000496772.1:n.2607+484_2607+496del
ENST00000642811.1:c.*2395+484_*2395+496del	ENSP00000495554.1:n.*2395+484_*2395+496del
ENST00000643072.1:c.2472+484_2472+496del	ENSP00000496691.1:n.2472+484_2472+496del
ENST00000643275.1:c.1099+484_1099+496del	ENSP00000495598.1:n.1099+484_1099+496del
ENST00000643583.1:c.2610+484_2610+496del	ENSP00000494685.1:n.2610+484_2610+496del
ENST00000643625.1:c.502+484_502+496del	ENSP00000495546.1:n.502+484_502+496del
ENST00000643875.1:c.2625+484_2625+496del	ENSP00000495158.1:n.2625+484_2625+496del
ENST00000644097.1:c.2622+484_2622+496del	ENSP00000494682.1:n.2622+484_2622+496del
ENST00000644184.1:c.1320+484_1320+496del	ENSP00000495428.1:n.1320+484_1320+496del
ENST00000644255.1:c.*2392+484_*2392+496del	ENSP00000493608.1:n.*2392+484_*2392+496del
ENST00000644319.1:n.3000+484_3000+496del
ENST00000644786.1:n.284+484_284+496del
ENST00000644882.1:n.1538+484_1538+496del
ENST00000645901.1:n.3476+484_3476+496del
ENST00000646391.1:c.*2395+484_*2395+496del	ENSP00000494104.1:n.*2395+484_*2395+496del
ENST00000646625.1:c.2625+484_2625+496del	ENSP00000496263.1:n.2625+484_2625+496del
ENST00000647262.1:n.1590+484_1590+496del
ENST00000647279.1:c.*1864+484_*1864+496del	ENSP00000494502.1:n.*1864+484_*1864+496del
ENST00000647506.1:n.3985_3997del
ENST00000647534.1:n.1689+484_1689+496del
ENST00000298552.7:c.2625+484_2625+496del	ENSP00000298552.3:n.2625+484_2625+496del
ENST00000440111.6:c.2625+484_2625+496del	ENSP00000394524.2:n.2625+484_2625+496del
ENST00000545250.5:c.2472+484_2472+496del	ENSP00000444017.1:n.2472+484_2472+496del
NM_000368.4:c.2625+484_2625+496del , LRG_486t1:c.2625+484_2625+496del	NP_000359.1:n.2625+484_2625+496del
NM_001162426.1:c.2622+484_2622+496del	NP_001155898.1:n.2622+484_2622+496del
NM_001162427.1:c.2472+484_2472+496del	NP_001155899.1:n.2472+484_2472+496del
XM_005272211.1:c.2625+484_2625+496del	XP_005272268.1:n.2625+484_2625+496del
XM_006717271.1:c.2625+484_2625+496del	XP_006717334.1:n.2625+484_2625+496del
XM_011518979.1:c.2625+484_2625+496del	XP_011517281.1:n.2625+484_2625+496del
NM_001362177.1:c.2262+484_2262+496del	NP_001349106.1:n.2262+484_2262+496del
XM_011518979.2:c.2625+484_2625+496del	XP_011517281.1:n.2625+484_2625+496del
XM_017015096.1:c.2625+484_2625+496del	XP_016870585.1:n.2625+484_2625+496del
XM_017015097.1:c.2625+484_2625+496del	XP_016870586.1:n.2625+484_2625+496del
XM_017015098.1:c.2622+484_2622+496del	XP_016870587.1:n.2622+484_2622+496del
XM_017015100.1:c.2262+484_2262+496del	XP_016870589.1:n.2262+484_2262+496del
XM_017015101.1:c.2259+484_2259+496del	XP_016870590.1:n.2259+484_2259+496del
NM_000368.5:c.2625+484_2625+496del MANE Select	NP_000359.1:n.2625+484_2625+496del
NM_001162426.2:c.2622+484_2622+496del	NP_001155898.1:n.2622+484_2622+496del
NM_001162427.2:c.2472+484_2472+496del	NP_001155899.1:n.2472+484_2472+496del
NM_001362177.2:c.2262+484_2262+496del	NP_001349106.1:n.2262+484_2262+496del