Canonical Allele Identifier: CA2201999839

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2055401_2055403delinsGCT , CM000678.2:g.2055401_2055403delinsGCT	GRCh38
NC_000016.9:g.2105402_2105404delinsGCT , CM000678.1:g.2105402_2105404delinsGCT	GRCh37
NC_000016.8:g.2045403_2045405delinsGCT	NCBI36
NG_005895.1:g.11096_11098delinsGCT , LRG_487:g.11096_11098delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.482-1_483delinsGCT
ENST00000642206.2:c.527-1_528delinsGCT
ENST00000642365.2:c.482-1_483delinsGCT
ENST00000644417.2:c.482-18_482-16delinsGCT	ENSP00000493912.2:n.482-18_482-16delinsGCT
ENST00000646464.2:c.226-579_226-577delinsGCT	ENSP00000496610.2:n.226-579_226-577delinsGCT
ENST00000219476.9:c.482-1_483delinsGCT
ENST00000350773.9:c.482-1_483delinsGCT
ENST00000401874.7:c.482-1_483delinsGCT
ENST00000432909.3:c.256-1_257delinsGCT
ENST00000461648.3:n.2395_2397delinsGCT
ENST00000568454.6:c.515-1_516delinsGCT
ENST00000568692.2:n.1205-1_1206delinsGCT
ENST00000642561.1:c.482-1_483delinsGCT
ENST00000642797.1:c.482-1_483delinsGCT
ENST00000642812.1:n.539-1_540delinsGCT
ENST00000642936.1:c.482-1_483delinsGCT
ENST00000643088.1:c.482-1_483delinsGCT
ENST00000643120.1:n.523-18_523-16delinsGCT
ENST00000643149.1:n.1435-1_1436delinsGCT
ENST00000643298.1:c.482-1_483delinsGCT
ENST00000643745.1:c.482-1_483delinsGCT
ENST00000643946.1:c.482-1_483delinsGCT
ENST00000644043.1:c.482-1_483delinsGCT
ENST00000644135.1:c.482-1_483delinsGCT
ENST00000644222.1:n.569-1_570delinsGCT
ENST00000644329.1:c.482-1_483delinsGCT
ENST00000644335.1:c.482-1_483delinsGCT
ENST00000644399.1:c.475-1_476delinsGCT
ENST00000644417.1:c.197-18_197-16delinsGCT	ENSP00000493912.1:n.197-18_197-16delinsGCT
ENST00000644665.1:n.599-1_600delinsGCT
ENST00000645591.1:n.1453-1_1454delinsGCT
ENST00000646388.1:c.482-1_483delinsGCT
ENST00000646823.1:n.870-1_871delinsGCT
ENST00000647234.1:n.1200-18_1200-16delinsGCT
ENST00000647242.1:n.1150-1_1151delinsGCT
ENST00000219476.7:c.482-1_483delinsGCT
ENST00000350773.8:c.482-1_483delinsGCT
ENST00000382538.10:c.335-1_336delinsGCT
ENST00000401874.6:c.482-1_483delinsGCT
ENST00000432909.2:c.256-1_257delinsGCT
ENST00000439117.6:c.226-795_226-793delinsGCT	ENSP00000406980.2:n.226-795_226-793delinsGCT
ENST00000439673.6:c.371-1_372delinsGCT
ENST00000568454.5:c.515-1_516delinsGCT
ENST00000568692.1:n.146-1_147delinsGCT
NM_000548.3:c.482-1_483delinsGCT , LRG_487t1:c.482-1_483delinsGCT
NM_001077183.1:c.482-1_483delinsGCT
NM_001114382.1:c.482-1_483delinsGCT
XM_005255529.3:c.482-1_483delinsGCT
XM_005255531.3:c.482-1_483delinsGCT
XM_011522636.1:c.482-1_483delinsGCT
XM_011522637.1:c.482-1_483delinsGCT
XM_011522638.1:c.371-1_372delinsGCT
XM_011522639.1:c.482-1_483delinsGCT
XM_011522640.1:c.482-1_483delinsGCT
XM_011522641.1:c.371-1_372delinsGCT
NM_000548.4:c.482-1_483delinsGCT
NM_001077183.2:c.482-1_483delinsGCT
NM_001114382.2:c.482-1_483delinsGCT
NM_001318827.1:c.371-1_372delinsGCT
NM_001318829.1:c.335-1_336delinsGCT
NM_001318831.1:c.-1-795_-1-793delinsGCT	NP_001305760.1:n.-1-795_-1-793delinsGCT
NM_001318832.1:c.515-1_516delinsGCT
NM_001363528.1:c.482-1_483delinsGCT
NM_021055.2:c.482-1_483delinsGCT
XM_005255531.4:c.482-1_483delinsGCT
XM_011522636.2:c.482-1_483delinsGCT
XM_011522637.2:c.482-1_483delinsGCT
XM_011522638.2:c.644-1_645delinsGCT
XM_011522639.2:c.482-1_483delinsGCT
XM_011522640.2:c.482-1_483delinsGCT
XM_017023615.1:c.482-1_483delinsGCT
XM_017023616.1:c.482-1_483delinsGCT
XM_017023617.1:c.644-1_645delinsGCT
XM_017023618.1:c.-950-1_-949delinsGCT
XM_024450413.1:c.482-1_483delinsGCT
NM_000548.5:c.482-1_483delinsGCT
NM_001370404.1:c.482-1_483delinsGCT
NM_001370405.1:c.482-1_483delinsGCT
NM_001077183.3:c.482-1_483delinsGCT
NM_001114382.3:c.482-1_483delinsGCT
NM_001318827.2:c.371-1_372delinsGCT
NM_001318829.2:c.335-1_336delinsGCT
NM_001318831.2:c.-1-795_-1-793delinsGCT	NP_001305760.1:n.-1-795_-1-793delinsGCT
NM_001318832.2:c.515-1_516delinsGCT
NM_001363528.2:c.482-1_483delinsGCT
NM_021055.3:c.482-1_483delinsGCT