Canonical Allele Identifier: CA645565257

Gene: TSC1

Linked Data

• COSMIC: COSM97024

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900724_132900727delinsGGGGGG , CM000671.2:g.132900724_132900727delinsGGGGGG	GRCh38
NC_000009.11:g.135776111_135776114delinsGGGGGG , CM000671.1:g.135776111_135776114delinsGGGGGG	GRCh37
NC_000009.10:g.134765932_134765935delinsGGGGGG	NCBI36
NG_012386.1:g.48907_48910delinsCCCCCC , LRG_486:g.48907_48910delinsCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2610_2613delinsCCCCCC	ENSP00000496126.2:p.Asp871ProfsTer7
ENST00000490179.4:c.2613_2616delinsCCCCCC	ENSP00000495533.2:p.Asp872ProfsTer7
ENST00000642261.2:c.*392_*395delinsCCCCCC	ENSP00000494743.2:n.*392_*395delinsCCCCCC
ENST00000643275.2:c.*553_*556delinsCCCCCC	ENSP00000495598.2:n.*553_*556delinsCCCCCC
ENST00000643362.2:c.2226_2229delinsCCCCCC	ENSP00000496398.2:p.Asp743ProfsTer7
ENST00000643625.2:c.*355_*358delinsCCCCCC	ENSP00000495546.2:n.*355_*358delinsCCCCCC
ENST00000643691.2:c.2250_2253delinsCCCCCC	ENSP00000494916.2:p.Asp751ProfsTer7
ENST00000644184.2:c.2571_2574delinsCCCCCC	ENSP00000495428.2:p.Asp858ProfsTer7
ENST00000645129.2:c.2457_2460delinsCCCCCC	ENSP00000493639.2:p.Asp820ProfsTer7
ENST00000646440.2:c.2613_2616delinsCCCCCC	ENSP00000495830.2:p.Asp872ProfsTer7
ENST00000298552.9:c.2613_2616delinsCCCCCC MANE Select	ENSP00000298552.3:p.Asp872ProfsTer7
ENST00000642261.1:c.673_676delinsCCCCCC
ENST00000642617.1:c.2610_2613delinsCCCCCC	ENSP00000493773.1:p.Asp871ProfsTer7
ENST00000642627.1:c.2595_2598delinsCCCCCC	ENSP00000496772.1:p.Asp866ProfsTer7
ENST00000642811.1:c.*2383_*2386delinsCCCCCC	ENSP00000495554.1:n.*2383_*2386delinsCCCCCC
ENST00000643072.1:c.2460_2463delinsCCCCCC	ENSP00000496691.1:p.Asp821ProfsTer7
ENST00000643275.1:c.1087_1090delinsCCCCCC	ENSP00000495598.1:n.1087_1090delinsCCCCCC
ENST00000643583.1:c.2598_2601delinsCCCCCC	ENSP00000494685.1:p.Asp867ProfsTer7
ENST00000643625.1:c.490_493delinsCCCCCC	ENSP00000495546.1:n.490_493delinsCCCCCC
ENST00000643875.1:c.2613_2616delinsCCCCCC	ENSP00000495158.1:p.Asp872ProfsTer7
ENST00000644097.1:c.2610_2613delinsCCCCCC	ENSP00000494682.1:p.Asp871ProfsTer7
ENST00000644184.1:c.1308_1311delinsCCCCCC	ENSP00000495428.1:p.Asp437ProfsTer7
ENST00000644255.1:c.*2380_*2383delinsCCCCCC	ENSP00000493608.1:n.*2380_*2383delinsCCCCCC
ENST00000644319.1:n.2988_2991delinsCCCCCC
ENST00000644786.1:n.272_275delinsCCCCCC
ENST00000644882.1:n.1526_1529delinsCCCCCC
ENST00000645901.1:n.3464_3467delinsCCCCCC
ENST00000646391.1:c.*2383_*2386delinsCCCCCC	ENSP00000494104.1:n.*2383_*2386delinsCCCCCC
ENST00000646625.1:c.2613_2616delinsCCCCCC	ENSP00000496263.1:p.Asp872ProfsTer7
ENST00000647262.1:n.1578_1581delinsCCCCCC
ENST00000647279.1:c.*1852_*1855delinsCCCCCC	ENSP00000494502.1:n.*1852_*1855delinsCCCCCC
ENST00000647506.1:n.3489_3492delinsCCCCCC
ENST00000647534.1:n.1677_1680delinsCCCCCC
ENST00000298552.7:c.2613_2616delinsCCCCCC	ENSP00000298552.3:p.Asp872ProfsTer7
ENST00000440111.6:c.2613_2616delinsCCCCCC	ENSP00000394524.2:p.Asp872ProfsTer7
ENST00000545250.5:c.2460_2463delinsCCCCCC	ENSP00000444017.1:p.Asp821ProfsTer7
NM_000368.4:c.2613_2616delinsCCCCCC , LRG_486t1:c.2613_2616delinsCCCCCC	NP_000359.1:p.Asp872ProfsTer7
NM_001162426.1:c.2610_2613delinsCCCCCC	NP_001155898.1:p.Asp871ProfsTer7
NM_001162427.1:c.2460_2463delinsCCCCCC	NP_001155899.1:p.Asp821ProfsTer7
XM_005272211.1:c.2613_2616delinsCCCCCC	XP_005272268.1:p.Asp872ProfsTer7
XM_006717271.1:c.2613_2616delinsCCCCCC	XP_006717334.1:p.Asp872ProfsTer7
XM_011518979.1:c.2613_2616delinsCCCCCC	XP_011517281.1:p.Asp872ProfsTer7
NM_001362177.1:c.2250_2253delinsCCCCCC	NP_001349106.1:p.Asp751ProfsTer7
XM_011518979.2:c.2613_2616delinsCCCCCC	XP_011517281.1:p.Asp872ProfsTer7
XM_017015096.1:c.2613_2616delinsCCCCCC	XP_016870585.1:p.Asp872ProfsTer7
XM_017015097.1:c.2613_2616delinsCCCCCC	XP_016870586.1:p.Asp872ProfsTer7
XM_017015098.1:c.2610_2613delinsCCCCCC	XP_016870587.1:p.Asp871ProfsTer7
XM_017015100.1:c.2250_2253delinsCCCCCC	XP_016870589.1:p.Asp751ProfsTer7
XM_017015101.1:c.2247_2250delinsCCCCCC	XP_016870590.1:p.Asp750ProfsTer7
NM_000368.5:c.2613_2616delinsCCCCCC MANE Select	NP_000359.1:p.Asp872ProfsTer7
NM_001162426.2:c.2610_2613delinsCCCCCC	NP_001155898.1:p.Asp871ProfsTer7
NM_001162427.2:c.2460_2463delinsCCCCCC	NP_001155899.1:p.Asp821ProfsTer7
NM_001362177.2:c.2250_2253delinsCCCCCC	NP_001349106.1:p.Asp751ProfsTer7