Canonical Allele Identifier: CA3267547562

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079675_2084521del , CM000678.2:g.2079675_2084521del	GRCh38
NC_000016.9:g.2129676_2134522del , CM000678.1:g.2129676_2134522del	GRCh37
NC_000016.8:g.2069677_2074523del	NCBI36
NG_005895.1:g.35370_40216del , LRG_487:g.35370_40216del

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.3:c.3397+6_4299del , LRG_487t1:c.3397+6_4299del
NM_000548.4:c.3397+6_4299del
NM_000548.5:c.3397+6_4299del
NM_001077183.1:c.3265+6_4098del
NM_001077183.2:c.3265+6_4098del
NM_001077183.3:c.3265+6_4098del
NM_001114382.1:c.3397+6_4230del
NM_001114382.2:c.3397+6_4230del
NM_001114382.3:c.3397+6_4230del
NM_001318827.1:c.3157+6_3990del
NM_001318827.2:c.3157+6_3990del
NM_001318829.1:c.3121+6_3954del
NM_001318829.2:c.3121+6_3954del
NM_001318831.1:c.2665+6_3567del
NM_001318831.2:c.2665+6_3567del
NM_001318832.1:c.3298+6_4131del
NM_001318832.2:c.3298+6_4131del
NM_001363528.1:c.3268+6_4101del
NM_001363528.2:c.3268+6_4101del
NM_001370404.1:c.3265+6_4167del
NM_001370405.1:c.3268+6_4170del
NM_021055.2:c.3268+6_4170del
NM_021055.3:c.3268+6_4170del
ENST00000219476.7:c.3397+6_4299del
ENST00000219476.9:c.3397+6_4299del
ENST00000350773.8:c.3397+6_4230del
ENST00000350773.9:c.3397+6_4230del
ENST00000382538.10:c.3121+6_3954del
ENST00000401874.6:c.3265+6_4098del
ENST00000401874.7:c.3265+6_4098del
ENST00000439117.6:c.*2564+6_*3466del
ENST00000439673.6:c.3157+6_3990del
ENST00000497886.5:n.1224+6_2057del
ENST00000568454.5:c.3298+6_4131del
ENST00000568454.6:c.3298+6_4131del
ENST00000568566.6:c.*1815+6_*2648del
ENST00000642206.2:c.3313+6_4146del
ENST00000642365.1:c.2051+6_2953del
ENST00000642365.2:c.3394+6_4296del
ENST00000642561.1:c.3268+6_4170del
ENST00000642797.1:c.3268+6_4101del
ENST00000642936.1:c.3265+6_4167del
ENST00000643088.1:c.3265+6_4098del
ENST00000643946.1:c.3397+6_4230del
ENST00000644043.1:c.3268+6_4170del
ENST00000644329.1:c.3265+6_4098del
ENST00000644335.1:c.3268+6_4101del
ENST00000644399.1:c.3387+6_4220del
ENST00000644417.2:c.*3846+6_*4679del
ENST00000645024.1:n.1550+6_2383del
ENST00000646388.1:c.3397+6_4299del
ENST00000646464.2:c.*4319+6_*7048del
ENST00000646634.1:n.2281+6_3114del
ENST00000646674.1:n.12+6_1551del
ENST00000647042.1:n.689+6_1522del
XM_005255529.3:c.3268+6_4170del
XM_005255531.3:c.3268+6_4101del
XM_005255531.4:c.3268+6_4101del
XM_011522636.1:c.3397+6_4353del
XM_011522636.2:c.3397+6_4353del
XM_011522637.1:c.3394+6_4350del
XM_011522637.2:c.3394+6_4350del
XM_011522638.1:c.3286+6_4242del
XM_011522638.2:c.3559+6_4515del
XM_011522639.1:c.3268+6_4224del
XM_011522639.2:c.3268+6_4224del
XM_011522640.1:c.3265+6_4221del
XM_011522640.2:c.3265+6_4221del
XM_011522641.1:c.3157+6_3990del
XM_017023615.1:c.3394+6_4296del
XM_017023616.1:c.3265+6_4167del
XM_017023617.1:c.3430+6_4263del
XM_017023618.1:c.2053+6_3009del
XM_024450413.1:c.3265+6_4098del