Canonical Allele Identifier: CA1882410791

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903693_132903694delinsCT , CM000671.2:g.132903693_132903694delinsCT	GRCh38
NC_000009.11:g.135779080_135779081delinsCT , CM000671.1:g.135779080_135779081delinsCT	GRCh37
NC_000009.10:g.134768901_134768902delinsCT	NCBI36
NG_012386.1:g.45940_45941delinsAG , LRG_486:g.45940_45941delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2162_2163delinsAG	ENSP00000496126.2:p.Lys721=
ENST00000490179.4:c.2165_2166delinsAG	ENSP00000495533.2:p.Lys722=
ENST00000642261.2:c.2165_2166delinsAG	ENSP00000494743.2:p.Lys722=
ENST00000643275.2:c.*105_*106delinsAG	ENSP00000495598.2:n.*105_*106delinsAG
ENST00000643362.2:c.1778_1779delinsAG	ENSP00000496398.2:p.Lys593=
ENST00000643625.2:c.2041+717_2041+718delinsAG	ENSP00000495546.2:n.2041+717_2041+718delinsAG
ENST00000643691.2:c.1802_1803delinsAG	ENSP00000494916.2:p.Lys601=
ENST00000644184.2:c.2165_2166delinsAG	ENSP00000495428.2:p.Lys722=
ENST00000645129.2:c.2009_2010delinsAG	ENSP00000493639.2:p.Lys670=
ENST00000646440.2:c.2165_2166delinsAG	ENSP00000495830.2:p.Lys722=
ENST00000298552.9:c.2165_2166delinsAG MANE Select	ENSP00000298552.3:p.Lys722=
ENST00000642261.1:c.229_230delinsAG
ENST00000642617.1:c.2162_2163delinsAG	ENSP00000493773.1:p.Lys721=
ENST00000642627.1:c.2147_2148delinsAG	ENSP00000496772.1:p.Lys716=
ENST00000642811.1:c.*1935_*1936delinsAG	ENSP00000495554.1:n.*1935_*1936delinsAG
ENST00000643072.1:c.2012_2013delinsAG	ENSP00000496691.1:p.Lys671=
ENST00000643275.1:c.639_640delinsAG	ENSP00000495598.1:n.639_640delinsAG
ENST00000643583.1:c.2150_2151delinsAG	ENSP00000494685.1:p.Lys717=
ENST00000643625.1:c.85+717_85+718delinsAG	ENSP00000495546.1:n.85+717_85+718delinsAG
ENST00000643875.1:c.2165_2166delinsAG	ENSP00000495158.1:p.Lys722=
ENST00000644097.1:c.2162_2163delinsAG	ENSP00000494682.1:p.Lys721=
ENST00000644184.1:c.902_903delinsAG	ENSP00000495428.1:p.Lys301=
ENST00000644255.1:c.*1932_*1933delinsAG	ENSP00000493608.1:n.*1932_*1933delinsAG
ENST00000644319.1:n.2540_2541delinsAG
ENST00000644882.1:n.1120_1121delinsAG
ENST00000645901.1:n.3016_3017delinsAG
ENST00000646391.1:c.*1935_*1936delinsAG	ENSP00000494104.1:n.*1935_*1936delinsAG
ENST00000646625.1:c.2165_2166delinsAG	ENSP00000496263.1:p.Lys722=
ENST00000647262.1:n.1130_1131delinsAG
ENST00000647279.1:c.*1404_*1405delinsAG	ENSP00000494502.1:n.*1404_*1405delinsAG
ENST00000647506.1:n.3041_3042delinsAG
ENST00000647534.1:n.1229_1230delinsAG
ENST00000298552.7:c.2165_2166delinsAG	ENSP00000298552.3:p.Lys722=
ENST00000440111.6:c.2165_2166delinsAG	ENSP00000394524.2:p.Lys722=
ENST00000545250.5:c.2012_2013delinsAG	ENSP00000444017.1:p.Lys671=
NM_000368.4:c.2165_2166delinsAG , LRG_486t1:c.2165_2166delinsAG	NP_000359.1:p.Lys722=
NM_001162426.1:c.2162_2163delinsAG	NP_001155898.1:p.Lys721=
NM_001162427.1:c.2012_2013delinsAG	NP_001155899.1:p.Lys671=
XM_005272211.1:c.2165_2166delinsAG	XP_005272268.1:p.Lys722=
XM_006717271.1:c.2165_2166delinsAG	XP_006717334.1:p.Lys722=
XM_011518979.1:c.2165_2166delinsAG	XP_011517281.1:p.Lys722=
NM_001362177.1:c.1802_1803delinsAG	NP_001349106.1:p.Lys601=
XM_011518979.2:c.2165_2166delinsAG	XP_011517281.1:p.Lys722=
XM_017015096.1:c.2165_2166delinsAG	XP_016870585.1:p.Lys722=
XM_017015097.1:c.2165_2166delinsAG	XP_016870586.1:p.Lys722=
XM_017015098.1:c.2162_2163delinsAG	XP_016870587.1:p.Lys721=
XM_017015100.1:c.1802_1803delinsAG	XP_016870589.1:p.Lys601=
XM_017015101.1:c.1799_1800delinsAG	XP_016870590.1:p.Lys600=
NM_000368.5:c.2165_2166delinsAG MANE Select	NP_000359.1:p.Lys722=
NM_001162426.2:c.2162_2163delinsAG	NP_001155898.1:p.Lys721=
NM_001162427.2:c.2012_2013delinsAG	NP_001155899.1:p.Lys671=
NM_001362177.2:c.1802_1803delinsAG	NP_001349106.1:p.Lys601=