Canonical Allele Identifier: CA2695221590

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086381_2086390del , CM000678.2:g.2086381_2086390del	GRCh38
NC_000016.9:g.2136382_2136391del , CM000678.1:g.2136382_2136391del	GRCh37
NC_000016.8:g.2076383_2076392del	NCBI36
NG_005895.1:g.42076_42085del , LRG_487:g.42076_42085del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3198+2_*3198+11del
ENST00000642206.2:c.4696+2_4696+11del
ENST00000642365.2:c.4846+2_4846+11del
ENST00000644417.2:c.*5362+2_*5362+11del
ENST00000646464.2:c.*7598+2_*7598+11del
ENST00000219476.9:c.4849+2_4849+11del
ENST00000350773.9:c.4780+2_4780+11del
ENST00000401874.7:c.4648+2_4648+11del
ENST00000568454.6:c.4681+2_4681+11del
ENST00000569110.2:c.1072+2_1072+11del
ENST00000569930.2:n.2731+2_2731+11del
ENST00000642365.1:c.3503+2_3503+11del
ENST00000642561.1:c.4720+2_4720+11del
ENST00000642728.1:n.1031+2_1031+11del
ENST00000642791.1:n.446+2_446+11del
ENST00000642797.1:c.4651+2_4651+11del
ENST00000642936.1:c.4717+2_4717+11del
ENST00000643088.1:c.4642+2_4642+11del
ENST00000643177.1:n.863+2_863+11del
ENST00000643426.1:n.2497+2_2497+11del
ENST00000643946.1:c.4774+2_4774+11del
ENST00000644043.1:c.4720+2_4720+11del
ENST00000644278.1:n.331+2_331+11del
ENST00000644329.1:c.4648+2_4648+11del
ENST00000644335.1:c.4645+2_4645+11del
ENST00000644399.1:c.4770+2_4770+11del
ENST00000645024.1:n.2933+2_2933+11del
ENST00000646388.1:c.4843+2_4843+11del
ENST00000646557.1:n.10+2_10+11del
ENST00000646634.1:n.3664+2_3664+11del
ENST00000646674.1:n.2101+2_2101+11del
ENST00000647042.1:n.2072+2_2072+11del
ENST00000647180.1:n.1962+2_1962+11del
ENST00000219476.7:c.4849+2_4849+11del
ENST00000350773.8:c.4780+2_4780+11del
ENST00000382538.10:c.4504+2_4504+11del
ENST00000401874.6:c.4648+2_4648+11del
ENST00000439117.6:c.*4016+2_*4016+11del
ENST00000439673.6:c.4540+2_4540+11del
ENST00000497886.5:n.2607+2_2607+11del
ENST00000568454.5:c.4681+2_4681+11del
ENST00000569110.1:c.1031+2_1031+11del
ENST00000569930.1:n.1964+2_1964+11del
NM_000548.3:c.4849+2_4849+11del , LRG_487t1:c.4849+2_4849+11del
NM_001077183.1:c.4648+2_4648+11del
NM_001114382.1:c.4780+2_4780+11del
XM_005255529.3:c.4720+2_4720+11del
XM_005255531.3:c.4651+2_4651+11del
XM_011522636.1:c.4903+2_4903+11del
XM_011522637.1:c.4900+2_4900+11del
XM_011522638.1:c.4792+2_4792+11del
XM_011522639.1:c.4774+2_4774+11del
XM_011522640.1:c.4771+2_4771+11del
XM_011522641.1:c.4540+2_4540+11del
NM_000548.4:c.4849+2_4849+11del
NM_001077183.2:c.4648+2_4648+11del
NM_001114382.2:c.4780+2_4780+11del
NM_001318827.1:c.4540+2_4540+11del
NM_001318829.1:c.4504+2_4504+11del
NM_001318831.1:c.4117+2_4117+11del
NM_001318832.1:c.4681+2_4681+11del
NM_001363528.1:c.4651+2_4651+11del
NM_021055.2:c.4720+2_4720+11del
XM_005255531.4:c.4651+2_4651+11del
XM_011522636.2:c.4903+2_4903+11del
XM_011522637.2:c.4900+2_4900+11del
XM_011522638.2:c.5065+2_5065+11del
XM_011522639.2:c.4774+2_4774+11del
XM_011522640.2:c.4771+2_4771+11del
XM_017023615.1:c.4846+2_4846+11del
XM_017023616.1:c.4717+2_4717+11del
XM_017023617.1:c.4813+2_4813+11del
XM_017023618.1:c.3559+2_3559+11del
XM_024450413.1:c.4648+2_4648+11del
NM_000548.5:c.4849+2_4849+11del
NM_001370404.1:c.4717+2_4717+11del
NM_001370405.1:c.4720+2_4720+11del
NM_001077183.3:c.4648+2_4648+11del
NM_001114382.3:c.4780+2_4780+11del
NM_001318827.2:c.4540+2_4540+11del
NM_001318829.2:c.4504+2_4504+11del
NM_001318831.2:c.4117+2_4117+11del
NM_001318832.2:c.4681+2_4681+11del
NM_001363528.2:c.4651+2_4651+11del
NM_021055.3:c.4720+2_4720+11del