Canonical Allele Identifier: CA006016

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48899
• ClinVar RCV Id: RCV000042150
• dbSNP Id: rs118203642
• MyVariant Identifiers: chr9:g.135779141_135779142insAACTA (hg19) ; chr9:g.132903754_132903755insAACTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903755_132903756insACTAA , CM000671.2:g.132903755_132903756insACTAA	GRCh38
NC_000009.11:g.135779142_135779143insACTAA , CM000671.1:g.135779142_135779143insACTAA	GRCh37
NC_000009.10:g.134768963_134768964insACTAA	NCBI36
NG_012386.1:g.45881_45882insGTTTA , LRG_486:g.45881_45882insGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2103_2104insGTTTA	ENSP00000496126.2:p.Leu702ValfsTer23
ENST00000490179.4:c.2106_2107insGTTTA	ENSP00000495533.2:p.Leu703ValfsTer23
ENST00000642261.2:c.2106_2107insGTTTA	ENSP00000494743.2:p.Leu703ValfsTer23
ENST00000643275.2:c.*46_*47insGTTTA	ENSP00000495598.2:n.*46_*47insGTTTA
ENST00000643362.2:c.1719_1720insGTTTA	ENSP00000496398.2:p.Leu574ValfsTer23
ENST00000643625.2:c.2041+658_2041+659insGTTTA	ENSP00000495546.2:n.2041+658_2041+659insGTTTA
ENST00000643691.2:c.1743_1744insGTTTA	ENSP00000494916.2:p.Leu582ValfsTer23
ENST00000644184.2:c.2106_2107insGTTTA	ENSP00000495428.2:p.Leu703ValfsTer23
ENST00000645129.2:c.1950_1951insGTTTA	ENSP00000493639.2:p.Leu651ValfsTer23
ENST00000646440.2:c.2106_2107insGTTTA	ENSP00000495830.2:p.Leu703ValfsTer23
ENST00000298552.9:c.2106_2107insGTTTA MANE Select	ENSP00000298552.3:p.Leu703ValfsTer23
ENST00000642261.1:c.170_171insGTTTA
ENST00000642617.1:c.2103_2104insGTTTA	ENSP00000493773.1:p.Leu702ValfsTer23
ENST00000642627.1:c.2088_2089insGTTTA	ENSP00000496772.1:p.Leu697ValfsTer23
ENST00000642811.1:c.*1876_*1877insGTTTA	ENSP00000495554.1:n.*1876_*1877insGTTTA
ENST00000643072.1:c.1953_1954insGTTTA	ENSP00000496691.1:p.Leu652ValfsTer23
ENST00000643275.1:c.580_581insGTTTA	ENSP00000495598.1:n.580_581insGTTTA
ENST00000643583.1:c.2091_2092insGTTTA	ENSP00000494685.1:p.Leu698ValfsTer23
ENST00000643625.1:c.85+658_85+659insGTTTA	ENSP00000495546.1:n.85+658_85+659insGTTTA
ENST00000643875.1:c.2106_2107insGTTTA	ENSP00000495158.1:p.Leu703ValfsTer23
ENST00000644097.1:c.2103_2104insGTTTA	ENSP00000494682.1:p.Leu702ValfsTer23
ENST00000644184.1:c.843_844insGTTTA	ENSP00000495428.1:p.Leu282ValfsTer23
ENST00000644255.1:c.*1873_*1874insGTTTA	ENSP00000493608.1:n.*1873_*1874insGTTTA
ENST00000644319.1:n.2481_2482insGTTTA
ENST00000644882.1:n.1061_1062insGTTTA
ENST00000645901.1:n.2957_2958insGTTTA
ENST00000646391.1:c.*1876_*1877insGTTTA	ENSP00000494104.1:n.*1876_*1877insGTTTA
ENST00000646625.1:c.2106_2107insGTTTA	ENSP00000496263.1:p.Leu703ValfsTer23
ENST00000647262.1:n.1071_1072insGTTTA
ENST00000647279.1:c.*1345_*1346insGTTTA	ENSP00000494502.1:n.*1345_*1346insGTTTA
ENST00000647506.1:n.2982_2983insGTTTA
ENST00000647534.1:n.1170_1171insGTTTA
ENST00000298552.7:c.2106_2107insGTTTA	ENSP00000298552.3:p.Leu703ValfsTer23
ENST00000440111.6:c.2106_2107insGTTTA	ENSP00000394524.2:p.Leu703ValfsTer23
ENST00000545250.5:c.1953_1954insGTTTA	ENSP00000444017.1:p.Leu652ValfsTer23
NM_000368.4:c.2106_2107insGTTTA , LRG_486t1:c.2106_2107insGTTTA	NP_000359.1:p.Leu703ValfsTer23
NM_001162426.1:c.2103_2104insGTTTA	NP_001155898.1:p.Leu702ValfsTer23
NM_001162427.1:c.1953_1954insGTTTA	NP_001155899.1:p.Leu652ValfsTer23
XM_005272211.1:c.2106_2107insGTTTA	XP_005272268.1:p.Leu703ValfsTer23
XM_006717271.1:c.2106_2107insGTTTA	XP_006717334.1:p.Leu703ValfsTer23
XM_011518979.1:c.2106_2107insGTTTA	XP_011517281.1:p.Leu703ValfsTer23
NM_001362177.1:c.1743_1744insGTTTA	NP_001349106.1:p.Leu582ValfsTer23
XM_011518979.2:c.2106_2107insGTTTA	XP_011517281.1:p.Leu703ValfsTer23
XM_017015096.1:c.2106_2107insGTTTA	XP_016870585.1:p.Leu703ValfsTer23
XM_017015097.1:c.2106_2107insGTTTA	XP_016870586.1:p.Leu703ValfsTer23
XM_017015098.1:c.2103_2104insGTTTA	XP_016870587.1:p.Leu702ValfsTer23
XM_017015100.1:c.1743_1744insGTTTA	XP_016870589.1:p.Leu582ValfsTer23
XM_017015101.1:c.1740_1741insGTTTA	XP_016870590.1:p.Leu581ValfsTer23
NM_000368.5:c.2106_2107insGTTTA MANE Select	NP_000359.1:p.Leu703ValfsTer23
NM_001162426.2:c.2103_2104insGTTTA	NP_001155898.1:p.Leu702ValfsTer23
NM_001162427.2:c.1953_1954insGTTTA	NP_001155899.1:p.Leu652ValfsTer23
NM_001362177.2:c.1743_1744insGTTTA	NP_001349106.1:p.Leu582ValfsTer23