Canonical Allele Identifier: CA264248

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64707
• ClinVar RCV Id: RCV000054882 ; RCV000523879 ; RCV001853082
• dbSNP Id: rs118203638
• MyVariant Identifiers: chr9:g.135779140_135779143dupTAAC (hg19) ; chr9:g.135779139_135779140insTAAC (hg19) ; chr9:g.132903753_132903756dupTAAC (hg38) ; chr9:g.132903752_132903753insTAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903754_132903757dup , CM000671.2:g.132903754_132903757dup	GRCh38
NC_000009.11:g.135779141_135779144dup , CM000671.1:g.135779141_135779144dup	GRCh37
NC_000009.10:g.134768962_134768965dup	NCBI36
NG_012386.1:g.45878_45881dup , LRG_486:g.45878_45881dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2100_2103dup	ENSP00000496126.2:p.Leu702ValfsTer4
ENST00000490179.4:c.2103_2106dup	ENSP00000495533.2:p.Leu703ValfsTer4
ENST00000642261.2:c.2103_2106dup	ENSP00000494743.2:p.Leu703ValfsTer4
ENST00000643275.2:c.*43_*46dup	ENSP00000495598.2:n.*43_*46dup
ENST00000643362.2:c.1716_1719dup	ENSP00000496398.2:p.Leu574ValfsTer4
ENST00000643625.2:c.2041+655_2041+658dup	ENSP00000495546.2:n.2041+655_2041+658dup
ENST00000643691.2:c.1740_1743dup	ENSP00000494916.2:p.Leu582ValfsTer4
ENST00000644184.2:c.2103_2106dup	ENSP00000495428.2:p.Leu703ValfsTer4
ENST00000645129.2:c.1947_1950dup	ENSP00000493639.2:p.Leu651ValfsTer4
ENST00000646440.2:c.2103_2106dup	ENSP00000495830.2:p.Leu703ValfsTer4
ENST00000298552.9:c.2103_2106dup MANE Select	ENSP00000298552.3:p.Leu703ValfsTer4
ENST00000642261.1:c.167_170dup
ENST00000642617.1:c.2100_2103dup	ENSP00000493773.1:p.Leu702ValfsTer4
ENST00000642627.1:c.2085_2088dup	ENSP00000496772.1:p.Leu697ValfsTer4
ENST00000642811.1:c.*1873_*1876dup	ENSP00000495554.1:n.*1873_*1876dup
ENST00000643072.1:c.1950_1953dup	ENSP00000496691.1:p.Leu652ValfsTer4
ENST00000643275.1:c.577_580dup	ENSP00000495598.1:n.577_580dup
ENST00000643583.1:c.2088_2091dup	ENSP00000494685.1:p.Leu698ValfsTer4
ENST00000643625.1:c.85+655_85+658dup	ENSP00000495546.1:n.85+655_85+658dup
ENST00000643875.1:c.2103_2106dup	ENSP00000495158.1:p.Leu703ValfsTer4
ENST00000644097.1:c.2100_2103dup	ENSP00000494682.1:p.Leu702ValfsTer4
ENST00000644184.1:c.840_843dup	ENSP00000495428.1:p.Leu282ValfsTer4
ENST00000644255.1:c.*1870_*1873dup	ENSP00000493608.1:n.*1870_*1873dup
ENST00000644319.1:n.2478_2481dup
ENST00000644882.1:n.1058_1061dup
ENST00000645901.1:n.2954_2957dup
ENST00000646391.1:c.*1873_*1876dup	ENSP00000494104.1:n.*1873_*1876dup
ENST00000646625.1:c.2103_2106dup	ENSP00000496263.1:p.Leu703ValfsTer4
ENST00000647262.1:n.1068_1071dup
ENST00000647279.1:c.*1342_*1345dup	ENSP00000494502.1:n.*1342_*1345dup
ENST00000647506.1:n.2979_2982dup
ENST00000647534.1:n.1167_1170dup
ENST00000298552.7:c.2103_2106dup	ENSP00000298552.3:p.Leu703ValfsTer4
ENST00000440111.6:c.2103_2106dup	ENSP00000394524.2:p.Leu703ValfsTer4
ENST00000545250.5:c.1950_1953dup	ENSP00000444017.1:p.Leu652ValfsTer4
NM_000368.4:c.2103_2106dup , LRG_486t1:c.2103_2106dup	NP_000359.1:p.Leu703ValfsTer4
NM_001162426.1:c.2100_2103dup	NP_001155898.1:p.Leu702ValfsTer4
NM_001162427.1:c.1950_1953dup	NP_001155899.1:p.Leu652ValfsTer4
XM_005272211.1:c.2103_2106dup	XP_005272268.1:p.Leu703ValfsTer4
XM_006717271.1:c.2103_2106dup	XP_006717334.1:p.Leu703ValfsTer4
XM_011518979.1:c.2103_2106dup	XP_011517281.1:p.Leu703ValfsTer4
NM_001362177.1:c.1740_1743dup	NP_001349106.1:p.Leu582ValfsTer4
XM_011518979.2:c.2103_2106dup	XP_011517281.1:p.Leu703ValfsTer4
XM_017015096.1:c.2103_2106dup	XP_016870585.1:p.Leu703ValfsTer4
XM_017015097.1:c.2103_2106dup	XP_016870586.1:p.Leu703ValfsTer4
XM_017015098.1:c.2100_2103dup	XP_016870587.1:p.Leu702ValfsTer4
XM_017015100.1:c.1740_1743dup	XP_016870589.1:p.Leu582ValfsTer4
XM_017015101.1:c.1737_1740dup	XP_016870590.1:p.Leu581ValfsTer4
NM_000368.5:c.2103_2106dup MANE Select	NP_000359.1:p.Leu703ValfsTer4
NM_001162426.2:c.2100_2103dup	NP_001155898.1:p.Leu702ValfsTer4
NM_001162427.2:c.1950_1953dup	NP_001155899.1:p.Leu652ValfsTer4
NM_001362177.2:c.1740_1743dup	NP_001349106.1:p.Leu582ValfsTer4