Canonical Allele Identifier: CA2580080150

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2024144
• ClinVar RCV Id: RCV002863096

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903721del , CM000671.2:g.132903721del	GRCh38
NC_000009.11:g.135779108del , CM000671.1:g.135779108del	GRCh37
NC_000009.10:g.134768929del	NCBI36
NG_012386.1:g.45915del , LRG_486:g.45915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2137del	ENSP00000496126.2:p.Leu713SerfsTer10
ENST00000490179.4:c.2140del	ENSP00000495533.2:p.Leu714SerfsTer10
ENST00000642261.2:c.2140del	ENSP00000494743.2:p.Leu714SerfsTer10
ENST00000643275.2:c.*80del	ENSP00000495598.2:n.*80del
ENST00000643362.2:c.1753del	ENSP00000496398.2:p.Leu585SerfsTer10
ENST00000643625.2:c.2041+692del	ENSP00000495546.2:n.2041+692del
ENST00000643691.2:c.1777del	ENSP00000494916.2:p.Leu593SerfsTer10
ENST00000644184.2:c.2140del	ENSP00000495428.2:p.Leu714SerfsTer10
ENST00000645129.2:c.1984del	ENSP00000493639.2:p.Leu662SerfsTer10
ENST00000646440.2:c.2140del	ENSP00000495830.2:p.Leu714SerfsTer10
ENST00000298552.9:c.2140del MANE Select	ENSP00000298552.3:p.Leu714SerfsTer10
ENST00000642261.1:c.204del
ENST00000642617.1:c.2137del	ENSP00000493773.1:p.Leu713SerfsTer10
ENST00000642627.1:c.2122del	ENSP00000496772.1:p.Leu708SerfsTer10
ENST00000642811.1:c.*1910del	ENSP00000495554.1:n.*1910del
ENST00000643072.1:c.1987del	ENSP00000496691.1:p.Leu663SerfsTer10
ENST00000643275.1:c.614del	ENSP00000495598.1:n.614del
ENST00000643583.1:c.2125del	ENSP00000494685.1:p.Leu709SerfsTer10
ENST00000643625.1:c.85+692del	ENSP00000495546.1:n.85+692del
ENST00000643875.1:c.2140del	ENSP00000495158.1:p.Leu714SerfsTer10
ENST00000644097.1:c.2137del	ENSP00000494682.1:p.Leu713SerfsTer10
ENST00000644184.1:c.877del	ENSP00000495428.1:p.Leu293SerfsTer10
ENST00000644255.1:c.*1907del	ENSP00000493608.1:n.*1907del
ENST00000644319.1:n.2515del
ENST00000644882.1:n.1095del
ENST00000645901.1:n.2991del
ENST00000646391.1:c.*1910del	ENSP00000494104.1:n.*1910del
ENST00000646625.1:c.2140del	ENSP00000496263.1:p.Leu714SerfsTer10
ENST00000647262.1:n.1105del
ENST00000647279.1:c.*1379del	ENSP00000494502.1:n.*1379del
ENST00000647506.1:n.3016del
ENST00000647534.1:n.1204del
ENST00000298552.7:c.2140del	ENSP00000298552.3:p.Leu714SerfsTer10
ENST00000440111.6:c.2140del	ENSP00000394524.2:p.Leu714SerfsTer10
ENST00000545250.5:c.1987del	ENSP00000444017.1:p.Leu663SerfsTer10
NM_000368.4:c.2140del , LRG_486t1:c.2140del	NP_000359.1:p.Leu714SerfsTer10
NM_001162426.1:c.2137del	NP_001155898.1:p.Leu713SerfsTer10
NM_001162427.1:c.1987del	NP_001155899.1:p.Leu663SerfsTer10
XM_005272211.1:c.2140del	XP_005272268.1:p.Leu714SerfsTer10
XM_006717271.1:c.2140del	XP_006717334.1:p.Leu714SerfsTer10
XM_011518979.1:c.2140del	XP_011517281.1:p.Leu714SerfsTer10
NM_001362177.1:c.1777del	NP_001349106.1:p.Leu593SerfsTer10
XM_011518979.2:c.2140del	XP_011517281.1:p.Leu714SerfsTer10
XM_017015096.1:c.2140del	XP_016870585.1:p.Leu714SerfsTer10
XM_017015097.1:c.2140del	XP_016870586.1:p.Leu714SerfsTer10
XM_017015098.1:c.2137del	XP_016870587.1:p.Leu713SerfsTer10
XM_017015100.1:c.1777del	XP_016870589.1:p.Leu593SerfsTer10
XM_017015101.1:c.1774del	XP_016870590.1:p.Leu592SerfsTer10
NM_000368.5:c.2140del MANE Select	NP_000359.1:p.Leu714SerfsTer10
NM_001162426.2:c.2137del	NP_001155898.1:p.Leu713SerfsTer10
NM_001162427.2:c.1987del	NP_001155899.1:p.Leu663SerfsTer10
NM_001362177.2:c.1777del	NP_001349106.1:p.Leu593SerfsTer10