Canonical Allele Identifier: CA3267547572

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2080167_2084523del , CM000678.2:g.2080167_2084523del	GRCh38
NC_000016.9:g.2130168_2134524del , CM000678.1:g.2130168_2134524del	GRCh37
NC_000016.8:g.2070169_2074525del	NCBI36
NG_005895.1:g.35862_40218del , LRG_487:g.35862_40218del

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.3:c.3400_4301del , LRG_487t1:c.3400_4301del
NM_000548.4:c.3400_4301del
NM_000548.5:c.3400_4301del
NM_001077183.1:c.3268_4100del
NM_001077183.2:c.3268_4100del
NM_001077183.3:c.3268_4100del
NM_001114382.1:c.3400_4232del
NM_001114382.2:c.3400_4232del
NM_001114382.3:c.3400_4232del
NM_001318827.1:c.3160_3992del
NM_001318827.2:c.3160_3992del
NM_001318829.1:c.3124_3956del
NM_001318829.2:c.3124_3956del
NM_001318831.1:c.2668_3569del
NM_001318831.2:c.2668_3569del
NM_001318832.1:c.3301_4133del
NM_001318832.2:c.3301_4133del
NM_001363528.1:c.3271_4103del
NM_001363528.2:c.3271_4103del
NM_001370404.1:c.3268_4169del
NM_001370405.1:c.3271_4172del
NM_021055.2:c.3271_4172del
NM_021055.3:c.3271_4172del
ENST00000219476.7:c.3400_4301del
ENST00000219476.9:c.3400_4301del
ENST00000350773.8:c.3400_4232del
ENST00000350773.9:c.3400_4232del
ENST00000382538.10:c.3124_3956del
ENST00000401874.6:c.3268_4100del
ENST00000401874.7:c.3268_4100del
ENST00000439117.6:c.*2567_*3468del
ENST00000439673.6:c.3160_3992del
ENST00000497886.5:n.1227_2059del
ENST00000568454.5:c.3301_4133del
ENST00000568454.6:c.3301_4133del
ENST00000568566.6:c.*1818_*2650del
ENST00000642206.2:c.3316_4148del
ENST00000642365.1:c.2054_2955del
ENST00000642365.2:c.3397_4298del
ENST00000642561.1:c.3271_4172del
ENST00000642797.1:c.3271_4103del
ENST00000642936.1:c.3268_4169del
ENST00000643088.1:c.3268_4100del
ENST00000643946.1:c.3400_4232del
ENST00000644043.1:c.3271_4172del
ENST00000644329.1:c.3268_4100del
ENST00000644335.1:c.3271_4103del
ENST00000644399.1:c.3390_4222del
ENST00000644417.2:c.*3849_*4681del
ENST00000645024.1:n.1553_2385del
ENST00000646388.1:c.3400_4301del
ENST00000646464.2:c.*4322_*7050del
ENST00000646634.1:n.2284_3116del
ENST00000646674.1:n.15_1553del
ENST00000647042.1:n.692_1524del
XM_005255529.3:c.3271_4172del
XM_005255531.3:c.3271_4103del
XM_005255531.4:c.3271_4103del
XM_011522636.1:c.3400_4355del
XM_011522636.2:c.3400_4355del
XM_011522637.1:c.3397_4352del
XM_011522637.2:c.3397_4352del
XM_011522638.1:c.3289_4244del
XM_011522638.2:c.3562_4517del
XM_011522639.1:c.3271_4226del
XM_011522639.2:c.3271_4226del
XM_011522640.1:c.3268_4223del
XM_011522640.2:c.3268_4223del
XM_011522641.1:c.3160_3992del
XM_017023615.1:c.3397_4298del
XM_017023616.1:c.3268_4169del
XM_017023617.1:c.3433_4265del
XM_017023618.1:c.2056_3011del
XM_024450413.1:c.3268_4100del