Canonical Allele Identifier: CA006111

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48917
• ClinVar RCV Id: RCV000042168
• dbSNP Id: rs118203656
• MyVariant Identifiers: chr9:g.135779055del (hg19) ; chr9:g.132903668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903669del , CM000671.2:g.132903669del	GRCh38
NC_000009.11:g.135779056del , CM000671.1:g.135779056del	GRCh37
NC_000009.10:g.134768877del	NCBI36
NG_012386.1:g.45966del , LRG_486:g.45966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2188del	ENSP00000496126.2:p.Glu730AsnfsTer6
ENST00000490179.4:c.2191del	ENSP00000495533.2:p.Glu731AsnfsTer6
ENST00000642261.2:c.2191del	ENSP00000494743.2:p.Glu731AsnfsTer6
ENST00000643275.2:c.*131del	ENSP00000495598.2:n.*131del
ENST00000643362.2:c.1804del	ENSP00000496398.2:p.Glu602AsnfsTer6
ENST00000643625.2:c.2041+743del	ENSP00000495546.2:n.2041+743del
ENST00000643691.2:c.1828del	ENSP00000494916.2:p.Glu610AsnfsTer6
ENST00000644184.2:c.2191del	ENSP00000495428.2:p.Glu731AsnfsTer6
ENST00000645129.2:c.2035del	ENSP00000493639.2:p.Glu679AsnfsTer6
ENST00000646440.2:c.2191del	ENSP00000495830.2:p.Glu731AsnfsTer6
ENST00000298552.9:c.2191del MANE Select	ENSP00000298552.3:p.Glu731AsnfsTer6
ENST00000642261.1:c.255del
ENST00000642617.1:c.2188del	ENSP00000493773.1:p.Glu730AsnfsTer6
ENST00000642627.1:c.2173del	ENSP00000496772.1:p.Glu725AsnfsTer6
ENST00000642811.1:c.*1961del	ENSP00000495554.1:n.*1961del
ENST00000643072.1:c.2038del	ENSP00000496691.1:p.Glu680AsnfsTer6
ENST00000643275.1:c.665del	ENSP00000495598.1:n.665del
ENST00000643583.1:c.2176del	ENSP00000494685.1:p.Glu726AsnfsTer6
ENST00000643625.1:c.85+743del	ENSP00000495546.1:n.85+743del
ENST00000643875.1:c.2191del	ENSP00000495158.1:p.Glu731AsnfsTer6
ENST00000644097.1:c.2188del	ENSP00000494682.1:p.Glu730AsnfsTer6
ENST00000644184.1:c.928del	ENSP00000495428.1:p.Glu310AsnfsTer6
ENST00000644255.1:c.*1958del	ENSP00000493608.1:n.*1958del
ENST00000644319.1:n.2566del
ENST00000644882.1:n.1146del
ENST00000645901.1:n.3042del
ENST00000646391.1:c.*1961del	ENSP00000494104.1:n.*1961del
ENST00000646625.1:c.2191del	ENSP00000496263.1:p.Glu731AsnfsTer6
ENST00000647262.1:n.1156del
ENST00000647279.1:c.*1430del	ENSP00000494502.1:n.*1430del
ENST00000647506.1:n.3067del
ENST00000647534.1:n.1255del
ENST00000298552.7:c.2191del	ENSP00000298552.3:p.Glu731AsnfsTer6
ENST00000440111.6:c.2191del	ENSP00000394524.2:p.Glu731AsnfsTer6
ENST00000545250.5:c.2038del	ENSP00000444017.1:p.Glu680AsnfsTer6
NM_000368.4:c.2191del , LRG_486t1:c.2191del	NP_000359.1:p.Glu731AsnfsTer6
NM_001162426.1:c.2188del	NP_001155898.1:p.Glu730AsnfsTer6
NM_001162427.1:c.2038del	NP_001155899.1:p.Glu680AsnfsTer6
XM_005272211.1:c.2191del	XP_005272268.1:p.Glu731AsnfsTer6
XM_006717271.1:c.2191del	XP_006717334.1:p.Glu731AsnfsTer6
XM_011518979.1:c.2191del	XP_011517281.1:p.Glu731AsnfsTer6
NM_001362177.1:c.1828del	NP_001349106.1:p.Glu610AsnfsTer6
XM_011518979.2:c.2191del	XP_011517281.1:p.Glu731AsnfsTer6
XM_017015096.1:c.2191del	XP_016870585.1:p.Glu731AsnfsTer6
XM_017015097.1:c.2191del	XP_016870586.1:p.Glu731AsnfsTer6
XM_017015098.1:c.2188del	XP_016870587.1:p.Glu730AsnfsTer6
XM_017015100.1:c.1828del	XP_016870589.1:p.Glu610AsnfsTer6
XM_017015101.1:c.1825del	XP_016870590.1:p.Glu609AsnfsTer6
NM_000368.5:c.2191del MANE Select	NP_000359.1:p.Glu731AsnfsTer6
NM_001162426.2:c.2188del	NP_001155898.1:p.Glu730AsnfsTer6
NM_001162427.2:c.2038del	NP_001155899.1:p.Glu680AsnfsTer6
NM_001362177.2:c.1828del	NP_001349106.1:p.Glu610AsnfsTer6