Canonical Allele Identifier: CA1882410906

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903713_132903714delinsTC , CM000671.2:g.132903713_132903714delinsTC	GRCh38
NC_000009.11:g.135779100_135779101delinsTC , CM000671.1:g.135779100_135779101delinsTC	GRCh37
NC_000009.10:g.134768921_134768922delinsTC	NCBI36
NG_012386.1:g.45920_45921delinsGA , LRG_486:g.45920_45921delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2142_2143delinsGA	ENSP00000496126.2:p.Arg714=
ENST00000490179.4:c.2145_2146delinsGA	ENSP00000495533.2:p.Arg715=
ENST00000642261.2:c.2145_2146delinsGA	ENSP00000494743.2:p.Arg715=
ENST00000643275.2:c.*85_*86delinsGA	ENSP00000495598.2:n.*85_*86delinsGA
ENST00000643362.2:c.1758_1759delinsGA	ENSP00000496398.2:p.Arg586=
ENST00000643625.2:c.2041+697_2041+698delinsGA	ENSP00000495546.2:n.2041+697_2041+698delinsGA
ENST00000643691.2:c.1782_1783delinsGA	ENSP00000494916.2:p.Arg594=
ENST00000644184.2:c.2145_2146delinsGA	ENSP00000495428.2:p.Arg715=
ENST00000645129.2:c.1989_1990delinsGA	ENSP00000493639.2:p.Arg663=
ENST00000646440.2:c.2145_2146delinsGA	ENSP00000495830.2:p.Arg715=
ENST00000298552.9:c.2145_2146delinsGA MANE Select	ENSP00000298552.3:p.Arg715=
ENST00000642261.1:c.209_210delinsGA
ENST00000642617.1:c.2142_2143delinsGA	ENSP00000493773.1:p.Arg714=
ENST00000642627.1:c.2127_2128delinsGA	ENSP00000496772.1:p.Arg709=
ENST00000642811.1:c.*1915_*1916delinsGA	ENSP00000495554.1:n.*1915_*1916delinsGA
ENST00000643072.1:c.1992_1993delinsGA	ENSP00000496691.1:p.Arg664=
ENST00000643275.1:c.619_620delinsGA	ENSP00000495598.1:n.619_620delinsGA
ENST00000643583.1:c.2130_2131delinsGA	ENSP00000494685.1:p.Arg710=
ENST00000643625.1:c.85+697_85+698delinsGA	ENSP00000495546.1:n.85+697_85+698delinsGA
ENST00000643875.1:c.2145_2146delinsGA	ENSP00000495158.1:p.Arg715=
ENST00000644097.1:c.2142_2143delinsGA	ENSP00000494682.1:p.Arg714=
ENST00000644184.1:c.882_883delinsGA	ENSP00000495428.1:p.Arg294=
ENST00000644255.1:c.*1912_*1913delinsGA	ENSP00000493608.1:n.*1912_*1913delinsGA
ENST00000644319.1:n.2520_2521delinsGA
ENST00000644882.1:n.1100_1101delinsGA
ENST00000645901.1:n.2996_2997delinsGA
ENST00000646391.1:c.*1915_*1916delinsGA	ENSP00000494104.1:n.*1915_*1916delinsGA
ENST00000646625.1:c.2145_2146delinsGA	ENSP00000496263.1:p.Arg715=
ENST00000647262.1:n.1110_1111delinsGA
ENST00000647279.1:c.*1384_*1385delinsGA	ENSP00000494502.1:n.*1384_*1385delinsGA
ENST00000647506.1:n.3021_3022delinsGA
ENST00000647534.1:n.1209_1210delinsGA
ENST00000298552.7:c.2145_2146delinsGA	ENSP00000298552.3:p.Arg715=
ENST00000440111.6:c.2145_2146delinsGA	ENSP00000394524.2:p.Arg715=
ENST00000545250.5:c.1992_1993delinsGA	ENSP00000444017.1:p.Arg664=
NM_000368.4:c.2145_2146delinsGA , LRG_486t1:c.2145_2146delinsGA	NP_000359.1:p.Arg715=
NM_001162426.1:c.2142_2143delinsGA	NP_001155898.1:p.Arg714=
NM_001162427.1:c.1992_1993delinsGA	NP_001155899.1:p.Arg664=
XM_005272211.1:c.2145_2146delinsGA	XP_005272268.1:p.Arg715=
XM_006717271.1:c.2145_2146delinsGA	XP_006717334.1:p.Arg715=
XM_011518979.1:c.2145_2146delinsGA	XP_011517281.1:p.Arg715=
NM_001362177.1:c.1782_1783delinsGA	NP_001349106.1:p.Arg594=
XM_011518979.2:c.2145_2146delinsGA	XP_011517281.1:p.Arg715=
XM_017015096.1:c.2145_2146delinsGA	XP_016870585.1:p.Arg715=
XM_017015097.1:c.2145_2146delinsGA	XP_016870586.1:p.Arg715=
XM_017015098.1:c.2142_2143delinsGA	XP_016870587.1:p.Arg714=
XM_017015100.1:c.1782_1783delinsGA	XP_016870589.1:p.Arg594=
XM_017015101.1:c.1779_1780delinsGA	XP_016870590.1:p.Arg593=
NM_000368.5:c.2145_2146delinsGA MANE Select	NP_000359.1:p.Arg715=
NM_001162426.2:c.2142_2143delinsGA	NP_001155898.1:p.Arg714=
NM_001162427.2:c.1992_1993delinsGA	NP_001155899.1:p.Arg664=
NM_001362177.2:c.1782_1783delinsGA	NP_001349106.1:p.Arg594=