Canonical Allele Identifier: CA2805580006

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084658_2084737del , CM000678.2:g.2084658_2084737del	GRCh38
NC_000016.9:g.2134659_2134738del , CM000678.1:g.2134659_2134738del	GRCh37
NC_000016.8:g.2074660_2074739del	NCBI36
NG_005895.1:g.40353_40432del , LRG_487:g.40353_40432del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2785_*2842+22del
ENST00000642206.2:c.4283_4340+22del
ENST00000642365.2:c.4433_4490+22del
ENST00000644417.2:c.*4816_*4873+22del
ENST00000646464.2:c.*7185_*7242+22del
ENST00000219476.9:c.4436_4493+22del
ENST00000350773.9:c.4367_4424+22del
ENST00000401874.7:c.4235_4292+22del
ENST00000568454.6:c.4268_4325+22del
ENST00000569110.2:c.672_716+35del
ENST00000569930.2:n.2318_2375+22del
ENST00000642365.1:c.3090_3147+22del
ENST00000642561.1:c.4307_4364+22del
ENST00000642728.1:n.618_675+22del
ENST00000642797.1:c.4238_4295+22del
ENST00000642936.1:c.4304_4361+22del
ENST00000643088.1:c.4235_4292+22del
ENST00000643177.1:n.450_507+22del
ENST00000643426.1:n.2084_2141+22del
ENST00000643946.1:c.4367_4424+22del
ENST00000644043.1:c.4307_4364+22del
ENST00000644329.1:c.4235_4292+22del
ENST00000644335.1:c.4238_4295+22del
ENST00000644399.1:c.4357_4414+22del
ENST00000645024.1:n.2520_2577+22del
ENST00000646388.1:c.4436_4493+22del
ENST00000646634.1:n.3251_3308+22del
ENST00000646674.1:n.1688_1745+22del
ENST00000647042.1:n.1659_1716+22del
ENST00000647180.1:n.1549_1606+22del
ENST00000219476.7:c.4436_4493+22del
ENST00000350773.8:c.4367_4424+22del
ENST00000382538.10:c.4091_4148+22del
ENST00000401874.6:c.4235_4292+22del
ENST00000439117.6:c.*3603_*3660+22del
ENST00000439673.6:c.4127_4184+22del
ENST00000497886.5:n.2194_2251+22del
ENST00000568454.5:c.4268_4325+22del
ENST00000569110.1:c.618_675+22del
ENST00000569930.1:n.1551_1608+22del
NM_000548.3:c.4436_4493+22del , LRG_487t1:c.4436_4493+22del
NM_001077183.1:c.4235_4292+22del
NM_001114382.1:c.4367_4424+22del
XM_005255529.3:c.4307_4364+22del
XM_005255531.3:c.4238_4295+22del
XM_011522636.1:c.4490_4547+22del
XM_011522637.1:c.4487_4544+22del
XM_011522638.1:c.4379_4436+22del
XM_011522639.1:c.4361_4418+22del
XM_011522640.1:c.4358_4415+22del
XM_011522641.1:c.4127_4184+22del
NM_000548.4:c.4436_4493+22del
NM_001077183.2:c.4235_4292+22del
NM_001114382.2:c.4367_4424+22del
NM_001318827.1:c.4127_4184+22del
NM_001318829.1:c.4091_4148+22del
NM_001318831.1:c.3704_3761+22del
NM_001318832.1:c.4268_4325+22del
NM_001363528.1:c.4238_4295+22del
NM_021055.2:c.4307_4364+22del
XM_005255531.4:c.4238_4295+22del
XM_011522636.2:c.4490_4547+22del
XM_011522637.2:c.4487_4544+22del
XM_011522638.2:c.4652_4709+22del
XM_011522639.2:c.4361_4418+22del
XM_011522640.2:c.4358_4415+22del
XM_017023615.1:c.4433_4490+22del
XM_017023616.1:c.4304_4361+22del
XM_017023617.1:c.4400_4457+22del
XM_017023618.1:c.3146_3203+22del
XM_024450413.1:c.4235_4292+22del
NM_000548.5:c.4436_4493+22del
NM_001370404.1:c.4304_4361+22del
NM_001370405.1:c.4307_4364+22del
NM_001077183.3:c.4235_4292+22del
NM_001114382.3:c.4367_4424+22del
NM_001318827.2:c.4127_4184+22del
NM_001318829.2:c.4091_4148+22del
NM_001318831.2:c.3704_3761+22del
NM_001318832.2:c.4268_4325+22del
NM_001363528.2:c.4238_4295+22del
NM_021055.3:c.4307_4364+22del