Canonical Allele Identifier: CA2739290706

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2055401_2055625del , CM000678.2:g.2055401_2055625del	GRCh38
NC_000016.9:g.2105402_2105626del , CM000678.1:g.2105402_2105626del	GRCh37
NC_000016.8:g.2045403_2045627del	NCBI36
NG_005895.1:g.11096_11320del , LRG_487:g.11096_11320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.482-1_599+106del
ENST00000642206.2:c.527-1_644+106del
ENST00000642365.2:c.482-1_599+106del
ENST00000644417.2:c.482-18_*36+106del
ENST00000646464.2:c.226-579_226-355del	ENSP00000496610.2:n.226-579_226-355del
ENST00000219476.9:c.482-1_599+106del
ENST00000350773.9:c.482-1_599+106del
ENST00000401874.7:c.482-1_599+106del
ENST00000432909.3:c.256-1_373+106del
ENST00000461648.3:n.2395_2619del
ENST00000568454.6:c.515-1_632+106del
ENST00000568692.2:n.1205-1_1428del
ENST00000642561.1:c.482-1_599+106del
ENST00000642797.1:c.482-1_599+106del
ENST00000642812.1:n.539-1_656+106del
ENST00000642936.1:c.482-1_599+106del
ENST00000643088.1:c.482-1_599+106del
ENST00000643120.1:n.523-18_729del
ENST00000643149.1:n.1435-1_1552+106del
ENST00000643298.1:c.482-1_599+106del
ENST00000643745.1:c.482-1_599+106del
ENST00000643946.1:c.482-1_599+106del
ENST00000644043.1:c.482-1_599+106del
ENST00000644135.1:c.482-1_599+106del
ENST00000644222.1:n.569-1_686+106del
ENST00000644329.1:c.482-1_599+106del
ENST00000644335.1:c.482-1_599+106del
ENST00000644399.1:c.475-1_592+106del
ENST00000644417.1:c.197-18_297+106del
ENST00000644665.1:n.599-1_716+106del
ENST00000645591.1:n.1453-1_1570+106del
ENST00000646388.1:c.482-1_599+106del
ENST00000646823.1:n.870-1_987+106del
ENST00000647234.1:n.1200-18_1300+106del
ENST00000647242.1:n.1150-1_1267+106del
ENST00000219476.7:c.482-1_599+106del
ENST00000350773.8:c.482-1_599+106del
ENST00000382538.10:c.335-1_452+106del
ENST00000401874.6:c.482-1_599+106del
ENST00000439117.6:c.226-795_226-571del	ENSP00000406980.2:n.226-795_226-571del
ENST00000439673.6:c.371-1_488+106del
ENST00000568454.5:c.515-1_632+106del
ENST00000568692.1:n.146-1_369del
NM_000548.3:c.482-1_599+106del , LRG_487t1:c.482-1_599+106del
NM_001077183.1:c.482-1_599+106del
NM_001114382.1:c.482-1_599+106del
XM_005255529.3:c.482-1_599+106del
XM_005255531.3:c.482-1_599+106del
XM_011522636.1:c.482-1_599+106del
XM_011522637.1:c.482-1_599+106del
XM_011522638.1:c.371-1_488+106del
XM_011522639.1:c.482-1_599+106del
XM_011522640.1:c.482-1_599+106del
XM_011522641.1:c.371-1_488+106del
NM_000548.4:c.482-1_599+106del
NM_001077183.2:c.482-1_599+106del
NM_001114382.2:c.482-1_599+106del
NM_001318827.1:c.371-1_488+106del
NM_001318829.1:c.335-1_452+106del
NM_001318831.1:c.-1-795_-1-571del	NP_001305760.1:n.-1-795_-1-571del
NM_001318832.1:c.515-1_632+106del
NM_001363528.1:c.482-1_599+106del
NM_021055.2:c.482-1_599+106del
XM_005255531.4:c.482-1_599+106del
XM_011522636.2:c.482-1_599+106del
XM_011522637.2:c.482-1_599+106del
XM_011522638.2:c.644-1_761+106del
XM_011522639.2:c.482-1_599+106del
XM_011522640.2:c.482-1_599+106del
XM_017023615.1:c.482-1_599+106del
XM_017023616.1:c.482-1_599+106del
XM_017023617.1:c.644-1_761+106del
XM_017023618.1:c.-950-1_-833+106del
XM_024450413.1:c.482-1_599+106del
NM_000548.5:c.482-1_599+106del
NM_001370404.1:c.482-1_599+106del
NM_001370405.1:c.482-1_599+106del
NM_001077183.3:c.482-1_599+106del
NM_001114382.3:c.482-1_599+106del
NM_001318827.2:c.371-1_488+106del
NM_001318829.2:c.335-1_452+106del
NM_001318831.2:c.-1-795_-1-571del	NP_001305760.1:n.-1-795_-1-571del
NM_001318832.2:c.515-1_632+106del
NM_001363528.2:c.482-1_599+106del
NM_021055.3:c.482-1_599+106del