Canonical Allele Identifier: CA2202017894

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084949_2084954delinsAGTTTC , CM000678.2:g.2084949_2084954delinsAGTTTC	GRCh38
NC_000016.9:g.2134950_2134955delinsAGTTTC , CM000678.1:g.2134950_2134955delinsAGTTTC	GRCh37
NC_000016.8:g.2074951_2074956delinsAGTTTC	NCBI36
NG_005895.1:g.40644_40649delinsAGTTTC , LRG_487:g.40644_40649delinsAGTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2843-2_*2846delinsAGTTTC
ENST00000642206.2:c.4341-2_4344delinsAGTTTC
ENST00000642365.2:c.4491-2_4494delinsAGTTTC
ENST00000644417.2:c.*4874-2_*4877delinsAGTTTC
ENST00000646464.2:c.*7243-2_*7246delinsAGTTTC
ENST00000219476.9:c.4494-2_4497delinsAGTTTC
ENST00000350773.9:c.4425-2_4428delinsAGTTTC
ENST00000401874.7:c.4293-2_4296delinsAGTTTC
ENST00000568454.6:c.4326-2_4329delinsAGTTTC
ENST00000569110.2:c.717-2_720delinsAGTTTC
ENST00000569930.2:n.2376-2_2379delinsAGTTTC
ENST00000642365.1:c.3148-2_3151delinsAGTTTC
ENST00000642561.1:c.4365-2_4368delinsAGTTTC
ENST00000642728.1:n.676-2_679delinsAGTTTC
ENST00000642797.1:c.4296-2_4299delinsAGTTTC
ENST00000642936.1:c.4362-2_4365delinsAGTTTC
ENST00000643088.1:c.4293-2_4296delinsAGTTTC
ENST00000643177.1:n.508-2_511delinsAGTTTC
ENST00000643426.1:n.2142-2_2145delinsAGTTTC
ENST00000643946.1:c.4425-2_4428delinsAGTTTC
ENST00000644043.1:c.4365-2_4368delinsAGTTTC
ENST00000644329.1:c.4293-2_4296delinsAGTTTC
ENST00000644335.1:c.4296-2_4299delinsAGTTTC
ENST00000644399.1:c.4415-2_4418delinsAGTTTC
ENST00000645024.1:n.2578-2_2581delinsAGTTTC
ENST00000646388.1:c.4494-2_4497delinsAGTTTC
ENST00000646634.1:n.3309-2_3312delinsAGTTTC
ENST00000646674.1:n.1746-2_1749delinsAGTTTC
ENST00000647042.1:n.1717-2_1720delinsAGTTTC
ENST00000647180.1:n.1607-2_1610delinsAGTTTC
ENST00000219476.7:c.4494-2_4497delinsAGTTTC
ENST00000350773.8:c.4425-2_4428delinsAGTTTC
ENST00000382538.10:c.4149-2_4152delinsAGTTTC
ENST00000401874.6:c.4293-2_4296delinsAGTTTC
ENST00000439117.6:c.*3661-2_*3664delinsAGTTTC
ENST00000439673.6:c.4185-2_4188delinsAGTTTC
ENST00000497886.5:n.2252-2_2255delinsAGTTTC
ENST00000568454.5:c.4326-2_4329delinsAGTTTC
ENST00000569110.1:c.676-2_679delinsAGTTTC
ENST00000569930.1:n.1609-2_1612delinsAGTTTC
NM_000548.3:c.4494-2_4497delinsAGTTTC , LRG_487t1:c.4494-2_4497delinsAGTTTC
NM_001077183.1:c.4293-2_4296delinsAGTTTC
NM_001114382.1:c.4425-2_4428delinsAGTTTC
XM_005255529.3:c.4365-2_4368delinsAGTTTC
XM_005255531.3:c.4296-2_4299delinsAGTTTC
XM_011522636.1:c.4548-2_4551delinsAGTTTC
XM_011522637.1:c.4545-2_4548delinsAGTTTC
XM_011522638.1:c.4437-2_4440delinsAGTTTC
XM_011522639.1:c.4419-2_4422delinsAGTTTC
XM_011522640.1:c.4416-2_4419delinsAGTTTC
XM_011522641.1:c.4185-2_4188delinsAGTTTC
NM_000548.4:c.4494-2_4497delinsAGTTTC
NM_001077183.2:c.4293-2_4296delinsAGTTTC
NM_001114382.2:c.4425-2_4428delinsAGTTTC
NM_001318827.1:c.4185-2_4188delinsAGTTTC
NM_001318829.1:c.4149-2_4152delinsAGTTTC
NM_001318831.1:c.3762-2_3765delinsAGTTTC
NM_001318832.1:c.4326-2_4329delinsAGTTTC
NM_001363528.1:c.4296-2_4299delinsAGTTTC
NM_021055.2:c.4365-2_4368delinsAGTTTC
XM_005255531.4:c.4296-2_4299delinsAGTTTC
XM_011522636.2:c.4548-2_4551delinsAGTTTC
XM_011522637.2:c.4545-2_4548delinsAGTTTC
XM_011522638.2:c.4710-2_4713delinsAGTTTC
XM_011522639.2:c.4419-2_4422delinsAGTTTC
XM_011522640.2:c.4416-2_4419delinsAGTTTC
XM_017023615.1:c.4491-2_4494delinsAGTTTC
XM_017023616.1:c.4362-2_4365delinsAGTTTC
XM_017023617.1:c.4458-2_4461delinsAGTTTC
XM_017023618.1:c.3204-2_3207delinsAGTTTC
XM_024450413.1:c.4293-2_4296delinsAGTTTC
NM_000548.5:c.4494-2_4497delinsAGTTTC
NM_001370404.1:c.4362-2_4365delinsAGTTTC
NM_001370405.1:c.4365-2_4368delinsAGTTTC
NM_001077183.3:c.4293-2_4296delinsAGTTTC
NM_001114382.3:c.4425-2_4428delinsAGTTTC
NM_001318827.2:c.4185-2_4188delinsAGTTTC
NM_001318829.2:c.4149-2_4152delinsAGTTTC
NM_001318831.2:c.3762-2_3765delinsAGTTTC
NM_001318832.2:c.4326-2_4329delinsAGTTTC
NM_001363528.2:c.4296-2_4299delinsAGTTTC
NM_021055.3:c.4365-2_4368delinsAGTTTC