Canonical Allele Identifier: CA2695203299

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900726_132900727del , CM000671.2:g.132900726_132900727del	GRCh38
NC_000009.11:g.135776113_135776114del , CM000671.1:g.135776113_135776114del	GRCh37
NC_000009.10:g.134765934_134765935del	NCBI36
NG_012386.1:g.48908_48909del , LRG_486:g.48908_48909del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2611_2612del	ENSP00000496126.2:p.Asp871TyrfsTer?
ENST00000490179.4:c.2614_2615del	ENSP00000495533.2:p.Asp872TyrfsTer?
ENST00000642261.2:c.*393_*394del	ENSP00000494743.2:n.*393_*394del
ENST00000643275.2:c.*554_*555del	ENSP00000495598.2:n.*554_*555del
ENST00000643362.2:c.2227_2228del	ENSP00000496398.2:p.Asp743TyrfsTer?
ENST00000643625.2:c.*356_*357del	ENSP00000495546.2:n.*356_*357del
ENST00000643691.2:c.2251_2252del	ENSP00000494916.2:p.Asp751TyrfsTer?
ENST00000644184.2:c.2572_2573del	ENSP00000495428.2:p.Asp858TyrfsTer?
ENST00000645129.2:c.2458_2459del	ENSP00000493639.2:p.Asp820TyrfsTer?
ENST00000646440.2:c.2614_2615del	ENSP00000495830.2:p.Asp872TyrfsTer?
ENST00000298552.9:c.2614_2615del MANE Select	ENSP00000298552.3:p.Asp872TyrfsTer?
ENST00000642261.1:c.674_675del
ENST00000642617.1:c.2611_2612del	ENSP00000493773.1:p.Asp871TyrfsTer?
ENST00000642627.1:c.2596_2597del	ENSP00000496772.1:p.Asp866TyrfsTer?
ENST00000642811.1:c.*2384_*2385del	ENSP00000495554.1:n.*2384_*2385del
ENST00000643072.1:c.2461_2462del	ENSP00000496691.1:p.Asp821TyrfsTer?
ENST00000643275.1:c.1088_1089del	ENSP00000495598.1:n.1088_1089del
ENST00000643583.1:c.2599_2600del	ENSP00000494685.1:p.Asp867TyrfsTer?
ENST00000643625.1:c.491_492del	ENSP00000495546.1:n.491_492del
ENST00000643875.1:c.2614_2615del	ENSP00000495158.1:p.Asp872TyrfsTer?
ENST00000644097.1:c.2611_2612del	ENSP00000494682.1:p.Asp871TyrfsTer?
ENST00000644184.1:c.1309_1310del	ENSP00000495428.1:p.Asp437TyrfsTer?
ENST00000644255.1:c.*2381_*2382del	ENSP00000493608.1:n.*2381_*2382del
ENST00000644319.1:n.2989_2990del
ENST00000644786.1:n.273_274del
ENST00000644882.1:n.1527_1528del
ENST00000645901.1:n.3465_3466del
ENST00000646391.1:c.*2384_*2385del	ENSP00000494104.1:n.*2384_*2385del
ENST00000646625.1:c.2614_2615del	ENSP00000496263.1:p.Asp872TyrfsTer?
ENST00000647262.1:n.1579_1580del
ENST00000647279.1:c.*1853_*1854del	ENSP00000494502.1:n.*1853_*1854del
ENST00000647506.1:n.3490_3491del
ENST00000647534.1:n.1678_1679del
ENST00000298552.7:c.2614_2615del	ENSP00000298552.3:p.Asp872TyrfsTer?
ENST00000440111.6:c.2614_2615del	ENSP00000394524.2:p.Asp872TyrfsTer?
ENST00000545250.5:c.2461_2462del	ENSP00000444017.1:p.Asp821TyrfsTer?
NM_000368.4:c.2614_2615del , LRG_486t1:c.2614_2615del	NP_000359.1:p.Asp872TyrfsTer?
NM_001162426.1:c.2611_2612del	NP_001155898.1:p.Asp871TyrfsTer?
NM_001162427.1:c.2461_2462del	NP_001155899.1:p.Asp821TyrfsTer?
XM_005272211.1:c.2614_2615del	XP_005272268.1:p.Asp872TyrfsTer?
XM_006717271.1:c.2614_2615del	XP_006717334.1:p.Asp872TyrfsTer?
XM_011518979.1:c.2614_2615del	XP_011517281.1:p.Asp872TyrfsTer?
NM_001362177.1:c.2251_2252del	NP_001349106.1:p.Asp751TyrfsTer?
XM_011518979.2:c.2614_2615del	XP_011517281.1:p.Asp872TyrfsTer?
XM_017015096.1:c.2614_2615del	XP_016870585.1:p.Asp872TyrfsTer?
XM_017015097.1:c.2614_2615del	XP_016870586.1:p.Asp872TyrfsTer?
XM_017015098.1:c.2611_2612del	XP_016870587.1:p.Asp871TyrfsTer?
XM_017015100.1:c.2251_2252del	XP_016870589.1:p.Asp751TyrfsTer?
XM_017015101.1:c.2248_2249del	XP_016870590.1:p.Asp750TyrfsTer?
NM_000368.5:c.2614_2615del MANE Select	NP_000359.1:p.Asp872TyrfsTer?
NM_001162426.2:c.2611_2612del	NP_001155898.1:p.Asp871TyrfsTer?
NM_001162427.2:c.2461_2462del	NP_001155899.1:p.Asp821TyrfsTer?
NM_001362177.2:c.2251_2252del	NP_001349106.1:p.Asp751TyrfsTer?