Canonical Allele Identifier: CA262250

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48898
• ClinVar RCV Id: RCV000042149
• dbSNP Id: rs118203641
• MyVariant Identifiers: chr9:g.135779137_135779143dupGAGTAAC (hg19) ; chr9:g.135779136_135779137insGAGTAAC (hg19) ; chr9:g.132903750_132903756dupGAGTAAC (hg38) ; chr9:g.132903749_132903750insGAGTAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903750_132903756dup , CM000671.2:g.132903750_132903756dup	GRCh38
NC_000009.11:g.135779137_135779143dup , CM000671.1:g.135779137_135779143dup	GRCh37
NC_000009.10:g.134768958_134768964dup	NCBI36
NG_012386.1:g.45878_45884dup , LRG_486:g.45878_45884dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2100_2106dup	ENSP00000496126.2:p.Tyr703ValfsTer4
ENST00000490179.4:c.2103_2109dup	ENSP00000495533.2:p.Tyr704ValfsTer4
ENST00000642261.2:c.2103_2109dup	ENSP00000494743.2:p.Tyr704ValfsTer4
ENST00000643275.2:c.*43_*49dup	ENSP00000495598.2:n.*43_*49dup
ENST00000643362.2:c.1716_1722dup	ENSP00000496398.2:p.Tyr575ValfsTer4
ENST00000643625.2:c.2041+655_2041+661dup	ENSP00000495546.2:n.2041+655_2041+661dup
ENST00000643691.2:c.1740_1746dup	ENSP00000494916.2:p.Tyr583ValfsTer4
ENST00000644184.2:c.2103_2109dup	ENSP00000495428.2:p.Tyr704ValfsTer4
ENST00000645129.2:c.1947_1953dup	ENSP00000493639.2:p.Tyr652ValfsTer4
ENST00000646440.2:c.2103_2109dup	ENSP00000495830.2:p.Tyr704ValfsTer4
ENST00000298552.9:c.2103_2109dup MANE Select	ENSP00000298552.3:p.Tyr704ValfsTer4
ENST00000642261.1:c.167_173dup
ENST00000642617.1:c.2100_2106dup	ENSP00000493773.1:p.Tyr703ValfsTer4
ENST00000642627.1:c.2085_2091dup	ENSP00000496772.1:p.Tyr698ValfsTer4
ENST00000642811.1:c.*1873_*1879dup	ENSP00000495554.1:n.*1873_*1879dup
ENST00000643072.1:c.1950_1956dup	ENSP00000496691.1:p.Tyr653ValfsTer4
ENST00000643275.1:c.577_583dup	ENSP00000495598.1:n.577_583dup
ENST00000643583.1:c.2088_2094dup	ENSP00000494685.1:p.Tyr699ValfsTer4
ENST00000643625.1:c.85+655_85+661dup	ENSP00000495546.1:n.85+655_85+661dup
ENST00000643875.1:c.2103_2109dup	ENSP00000495158.1:p.Tyr704ValfsTer4
ENST00000644097.1:c.2100_2106dup	ENSP00000494682.1:p.Tyr703ValfsTer4
ENST00000644184.1:c.840_846dup	ENSP00000495428.1:p.Tyr283ValfsTer4
ENST00000644255.1:c.*1870_*1876dup	ENSP00000493608.1:n.*1870_*1876dup
ENST00000644319.1:n.2478_2484dup
ENST00000644882.1:n.1058_1064dup
ENST00000645901.1:n.2954_2960dup
ENST00000646391.1:c.*1873_*1879dup	ENSP00000494104.1:n.*1873_*1879dup
ENST00000646625.1:c.2103_2109dup	ENSP00000496263.1:p.Tyr704ValfsTer4
ENST00000647262.1:n.1068_1074dup
ENST00000647279.1:c.*1342_*1348dup	ENSP00000494502.1:n.*1342_*1348dup
ENST00000647506.1:n.2979_2985dup
ENST00000647534.1:n.1167_1173dup
ENST00000298552.7:c.2103_2109dup	ENSP00000298552.3:p.Tyr704ValfsTer4
ENST00000440111.6:c.2103_2109dup	ENSP00000394524.2:p.Tyr704ValfsTer4
ENST00000545250.5:c.1950_1956dup	ENSP00000444017.1:p.Tyr653ValfsTer4
NM_000368.4:c.2103_2109dup , LRG_486t1:c.2103_2109dup	NP_000359.1:p.Tyr704ValfsTer4
NM_001162426.1:c.2100_2106dup	NP_001155898.1:p.Tyr703ValfsTer4
NM_001162427.1:c.1950_1956dup	NP_001155899.1:p.Tyr653ValfsTer4
XM_005272211.1:c.2103_2109dup	XP_005272268.1:p.Tyr704ValfsTer4
XM_006717271.1:c.2103_2109dup	XP_006717334.1:p.Tyr704ValfsTer4
XM_011518979.1:c.2103_2109dup	XP_011517281.1:p.Tyr704ValfsTer4
NM_001362177.1:c.1740_1746dup	NP_001349106.1:p.Tyr583ValfsTer4
XM_011518979.2:c.2103_2109dup	XP_011517281.1:p.Tyr704ValfsTer4
XM_017015096.1:c.2103_2109dup	XP_016870585.1:p.Tyr704ValfsTer4
XM_017015097.1:c.2103_2109dup	XP_016870586.1:p.Tyr704ValfsTer4
XM_017015098.1:c.2100_2106dup	XP_016870587.1:p.Tyr703ValfsTer4
XM_017015100.1:c.1740_1746dup	XP_016870589.1:p.Tyr583ValfsTer4
XM_017015101.1:c.1737_1743dup	XP_016870590.1:p.Tyr582ValfsTer4
NM_000368.5:c.2103_2109dup MANE Select	NP_000359.1:p.Tyr704ValfsTer4
NM_001162426.2:c.2100_2106dup	NP_001155898.1:p.Tyr703ValfsTer4
NM_001162427.2:c.1950_1956dup	NP_001155899.1:p.Tyr653ValfsTer4
NM_001362177.2:c.1740_1746dup	NP_001349106.1:p.Tyr583ValfsTer4