Canonical Allele Identifier: CA10603102

Gene: TSC1

Linked Data

• ClinVar Variation Id: 280208
• ClinVar RCV Id: RCV000261838
• dbSNP Id: rs886041456
• MyVariant Identifiers: chr9:g.135779090del (hg19) ; chr9:g.132903703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903703del , CM000671.2:g.132903703del	GRCh38
NC_000009.11:g.135779090del , CM000671.1:g.135779090del	GRCh37
NC_000009.10:g.134768911del	NCBI36
NG_012386.1:g.45931del , LRG_486:g.45931del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2153del	ENSP00000496126.2:p.Leu718ProfsTer5
ENST00000490179.4:c.2156del	ENSP00000495533.2:p.Leu719ProfsTer5
ENST00000642261.2:c.2156del	ENSP00000494743.2:p.Leu719ProfsTer5
ENST00000643275.2:c.*96del	ENSP00000495598.2:n.*96del
ENST00000643362.2:c.1769del	ENSP00000496398.2:p.Leu590ProfsTer5
ENST00000643625.2:c.2041+708del	ENSP00000495546.2:n.2041+708del
ENST00000643691.2:c.1793del	ENSP00000494916.2:p.Leu598ProfsTer5
ENST00000644184.2:c.2156del	ENSP00000495428.2:p.Leu719ProfsTer5
ENST00000645129.2:c.2000del	ENSP00000493639.2:p.Leu667ProfsTer5
ENST00000646440.2:c.2156del	ENSP00000495830.2:p.Leu719ProfsTer5
ENST00000298552.9:c.2156del MANE Select	ENSP00000298552.3:p.Leu719ProfsTer5
ENST00000642261.1:c.220del
ENST00000642617.1:c.2153del	ENSP00000493773.1:p.Leu718ProfsTer5
ENST00000642627.1:c.2138del	ENSP00000496772.1:p.Leu713ProfsTer5
ENST00000642811.1:c.*1926del	ENSP00000495554.1:n.*1926del
ENST00000643072.1:c.2003del	ENSP00000496691.1:p.Leu668ProfsTer5
ENST00000643275.1:c.630del	ENSP00000495598.1:n.630del
ENST00000643583.1:c.2141del	ENSP00000494685.1:p.Leu714ProfsTer5
ENST00000643625.1:c.85+708del	ENSP00000495546.1:n.85+708del
ENST00000643875.1:c.2156del	ENSP00000495158.1:p.Leu719ProfsTer5
ENST00000644097.1:c.2153del	ENSP00000494682.1:p.Leu718ProfsTer5
ENST00000644184.1:c.893del	ENSP00000495428.1:p.Leu298ProfsTer5
ENST00000644255.1:c.*1923del	ENSP00000493608.1:n.*1923del
ENST00000644319.1:n.2531del
ENST00000644882.1:n.1111del
ENST00000645901.1:n.3007del
ENST00000646391.1:c.*1926del	ENSP00000494104.1:n.*1926del
ENST00000646625.1:c.2156del	ENSP00000496263.1:p.Leu719ProfsTer5
ENST00000647262.1:n.1121del
ENST00000647279.1:c.*1395del	ENSP00000494502.1:n.*1395del
ENST00000647506.1:n.3032del
ENST00000647534.1:n.1220del
ENST00000298552.7:c.2156del	ENSP00000298552.3:p.Leu719ProfsTer5
ENST00000440111.6:c.2156del	ENSP00000394524.2:p.Leu719ProfsTer5
ENST00000545250.5:c.2003del	ENSP00000444017.1:p.Leu668ProfsTer5
NM_000368.4:c.2156del , LRG_486t1:c.2156del	NP_000359.1:p.Leu719ProfsTer5
NM_001162426.1:c.2153del	NP_001155898.1:p.Leu718ProfsTer5
NM_001162427.1:c.2003del	NP_001155899.1:p.Leu668ProfsTer5
XM_005272211.1:c.2156del	XP_005272268.1:p.Leu719ProfsTer5
XM_006717271.1:c.2156del	XP_006717334.1:p.Leu719ProfsTer5
XM_011518979.1:c.2156del	XP_011517281.1:p.Leu719ProfsTer5
NM_001362177.1:c.1793del	NP_001349106.1:p.Leu598ProfsTer5
XM_011518979.2:c.2156del	XP_011517281.1:p.Leu719ProfsTer5
XM_017015096.1:c.2156del	XP_016870585.1:p.Leu719ProfsTer5
XM_017015097.1:c.2156del	XP_016870586.1:p.Leu719ProfsTer5
XM_017015098.1:c.2153del	XP_016870587.1:p.Leu718ProfsTer5
XM_017015100.1:c.1793del	XP_016870589.1:p.Leu598ProfsTer5
XM_017015101.1:c.1790del	XP_016870590.1:p.Leu597ProfsTer5
NM_000368.5:c.2156del MANE Select	NP_000359.1:p.Leu719ProfsTer5
NM_001162426.2:c.2153del	NP_001155898.1:p.Leu718ProfsTer5
NM_001162427.2:c.2003del	NP_001155899.1:p.Leu668ProfsTer5
NM_001362177.2:c.1793del	NP_001349106.1:p.Leu598ProfsTer5