Canonical Allele Identifier: CA006079

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48910
• ClinVar RCV Id: RCV000042161 ; RCV001008783 ; RCV001385877
• dbSNP Id: rs118203650
• MyVariant Identifiers: chr9:g.135779101del (hg19) ; chr9:g.132903714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903715del , CM000671.2:g.132903715del	GRCh38
NC_000009.11:g.135779102del , CM000671.1:g.135779102del	GRCh37
NC_000009.10:g.134768923del	NCBI36
NG_012386.1:g.45920del , LRG_486:g.45920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2142del	ENSP00000496126.2:p.Asn715ThrfsTer8
ENST00000490179.4:c.2145del	ENSP00000495533.2:p.Asn716ThrfsTer8
ENST00000642261.2:c.2145del	ENSP00000494743.2:p.Asn716ThrfsTer8
ENST00000643275.2:c.*85del	ENSP00000495598.2:n.*85del
ENST00000643362.2:c.1758del	ENSP00000496398.2:p.Asn587ThrfsTer8
ENST00000643625.2:c.2041+697del	ENSP00000495546.2:n.2041+697del
ENST00000643691.2:c.1782del	ENSP00000494916.2:p.Asn595ThrfsTer8
ENST00000644184.2:c.2145del	ENSP00000495428.2:p.Asn716ThrfsTer8
ENST00000645129.2:c.1989del	ENSP00000493639.2:p.Asn664ThrfsTer8
ENST00000646440.2:c.2145del	ENSP00000495830.2:p.Asn716ThrfsTer8
ENST00000298552.9:c.2145del MANE Select	ENSP00000298552.3:p.Asn716ThrfsTer8
ENST00000642261.1:c.209del
ENST00000642617.1:c.2142del	ENSP00000493773.1:p.Asn715ThrfsTer8
ENST00000642627.1:c.2127del	ENSP00000496772.1:p.Asn710ThrfsTer8
ENST00000642811.1:c.*1915del	ENSP00000495554.1:n.*1915del
ENST00000643072.1:c.1992del	ENSP00000496691.1:p.Asn665ThrfsTer8
ENST00000643275.1:c.619del	ENSP00000495598.1:n.619del
ENST00000643583.1:c.2130del	ENSP00000494685.1:p.Asn711ThrfsTer8
ENST00000643625.1:c.85+697del	ENSP00000495546.1:n.85+697del
ENST00000643875.1:c.2145del	ENSP00000495158.1:p.Asn716ThrfsTer8
ENST00000644097.1:c.2142del	ENSP00000494682.1:p.Asn715ThrfsTer8
ENST00000644184.1:c.882del	ENSP00000495428.1:p.Asn295ThrfsTer8
ENST00000644255.1:c.*1912del	ENSP00000493608.1:n.*1912del
ENST00000644319.1:n.2520del
ENST00000644882.1:n.1100del
ENST00000645901.1:n.2996del
ENST00000646391.1:c.*1915del	ENSP00000494104.1:n.*1915del
ENST00000646625.1:c.2145del	ENSP00000496263.1:p.Asn716ThrfsTer8
ENST00000647262.1:n.1110del
ENST00000647279.1:c.*1384del	ENSP00000494502.1:n.*1384del
ENST00000647506.1:n.3021del
ENST00000647534.1:n.1209del
ENST00000298552.7:c.2145del	ENSP00000298552.3:p.Asn716ThrfsTer8
ENST00000440111.6:c.2145del	ENSP00000394524.2:p.Asn716ThrfsTer8
ENST00000545250.5:c.1992del	ENSP00000444017.1:p.Asn665ThrfsTer8
NM_000368.4:c.2145del , LRG_486t1:c.2145del	NP_000359.1:p.Asn716ThrfsTer8
NM_001162426.1:c.2142del	NP_001155898.1:p.Asn715ThrfsTer8
NM_001162427.1:c.1992del	NP_001155899.1:p.Asn665ThrfsTer8
XM_005272211.1:c.2145del	XP_005272268.1:p.Asn716ThrfsTer8
XM_006717271.1:c.2145del	XP_006717334.1:p.Asn716ThrfsTer8
XM_011518979.1:c.2145del	XP_011517281.1:p.Asn716ThrfsTer8
NM_001362177.1:c.1782del	NP_001349106.1:p.Asn595ThrfsTer8
XM_011518979.2:c.2145del	XP_011517281.1:p.Asn716ThrfsTer8
XM_017015096.1:c.2145del	XP_016870585.1:p.Asn716ThrfsTer8
XM_017015097.1:c.2145del	XP_016870586.1:p.Asn716ThrfsTer8
XM_017015098.1:c.2142del	XP_016870587.1:p.Asn715ThrfsTer8
XM_017015100.1:c.1782del	XP_016870589.1:p.Asn595ThrfsTer8
XM_017015101.1:c.1779del	XP_016870590.1:p.Asn594ThrfsTer8
NM_000368.5:c.2145del MANE Select	NP_000359.1:p.Asn716ThrfsTer8
NM_001162426.2:c.2142del	NP_001155898.1:p.Asn715ThrfsTer8
NM_001162427.2:c.1992del	NP_001155899.1:p.Asn665ThrfsTer8
NM_001362177.2:c.1782del	NP_001349106.1:p.Asn595ThrfsTer8