Canonical Allele Identifier: CA2202033385

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088460_2088476delinsCGCCTACTCCAACCCCA , CM000678.2:g.2088460_2088476delinsCGCCTACTCCAACCCCA	GRCh38
NC_000016.9:g.2138461_2138477delinsCGCCTACTCCAACCCCA , CM000678.1:g.2138461_2138477delinsCGCCTACTCCAACCCCA	GRCh37
NC_000016.8:g.2078462_2078478delinsCGCCTACTCCAACCCCA	NCBI36
NG_005895.1:g.44155_44171delinsCGCCTACTCCAACCCCA , LRG_487:g.44155_44171delinsCGCCTACTCCAACCCCA
NG_008617.1:g.54745_54761delinsTGGGGTTGGAGTAGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3623_*3639delinsCGCCTACTCCAACCCCA	ENSP00000455997.2:n.*3623_*3639delinsCGCCTACTCCAACCCCA
ENST00000642206.2:c.5121_5137delinsCGCCTACTCCAACCCCA	ENSP00000495146.2:p.Ala1707=
ENST00000642365.2:c.5271_5287delinsCGCCTACTCCAACCCCA	ENSP00000495459.2:p.Ala1757=
ENST00000644417.2:c.*5787_*5803delinsCGCCTACTCCAACCCCA	ENSP00000493912.2:n.*5787_*5803delinsCGCCTACTCCAACCCCA
ENST00000646464.2:c.*8023_*8039delinsCGCCTACTCCAACCCCA	ENSP00000496610.2:n.*8023_*8039delinsCGCCTACTCCAACCCCA
ENST00000219476.9:c.5274_5290delinsCGCCTACTCCAACCCCA MANE Select	ENSP00000219476.3:p.Ala1758=
ENST00000350773.9:c.5205_5221delinsCGCCTACTCCAACCCCA	ENSP00000344383.4:p.Ala1735=
ENST00000401874.7:c.5073_5089delinsCGCCTACTCCAACCCCA	ENSP00000384468.2:p.Ala1691=
ENST00000568454.6:c.5106_5122delinsCGCCTACTCCAACCCCA	ENSP00000454487.1:p.Ala1702=
ENST00000569110.2:c.1497_1513delinsCGCCTACTCCAACCCCA
ENST00000569930.2:n.3156_3172delinsCGCCTACTCCAACCCCA
ENST00000642365.1:c.3928_3944delinsCGCCTACTCCAACCCCA
ENST00000642561.1:c.5133_5149delinsCGCCTACTCCAACCCCA	ENSP00000495099.1:p.Ala1711=
ENST00000642791.1:n.871_887delinsCGCCTACTCCAACCCCA
ENST00000642797.1:c.5076_5092delinsCGCCTACTCCAACCCCA	ENSP00000493846.1:p.Ala1692=
ENST00000642936.1:c.5142_5158delinsCGCCTACTCCAACCCCA	ENSP00000494514.1:p.Ala1714=
ENST00000643088.1:c.5067_5083delinsCGCCTACTCCAACCCCA	ENSP00000494747.1:p.Ala1689=
ENST00000643426.1:n.2922_2938delinsCGCCTACTCCAACCCCA
ENST00000643946.1:c.5199_5215delinsCGCCTACTCCAACCCCA	ENSP00000495927.1:p.Ala1733=
ENST00000644043.1:c.5145_5161delinsCGCCTACTCCAACCCCA	ENSP00000496262.1:p.Ala1715=
ENST00000644329.1:c.5160_5176delinsCGCCTACTCCAACCCCA	ENSP00000496611.1:p.Ala1720=
ENST00000644335.1:c.5070_5086delinsCGCCTACTCCAACCCCA	ENSP00000496317.1:p.Ala1690=
ENST00000644399.1:c.5195_5211delinsCGCCTACTCCAACCCCA
ENST00000645024.1:n.3358_3374delinsCGCCTACTCCAACCCCA
ENST00000646388.1:c.5268_5284delinsCGCCTACTCCAACCCCA	ENSP00000495921.1:p.Ala1756=
ENST00000646634.1:n.4089_4105delinsCGCCTACTCCAACCCCA
ENST00000646674.1:n.2526_2542delinsCGCCTACTCCAACCCCA
ENST00000647042.1:n.2497_2513delinsCGCCTACTCCAACCCCA
ENST00000647180.1:n.2387_2403delinsCGCCTACTCCAACCCCA
ENST00000219476.7:c.5274_5290delinsCGCCTACTCCAACCCCA	ENSP00000219476.3:p.Ala1758=
ENST00000350773.8:c.5205_5221delinsCGCCTACTCCAACCCCA	ENSP00000344383.4:p.Ala1735=
ENST00000382538.10:c.4929_4945delinsCGCCTACTCCAACCCCA	ENSP00000371978.6:p.Ala1643=
ENST00000401874.6:c.5073_5089delinsCGCCTACTCCAACCCCA	ENSP00000384468.2:p.Ala1691=
ENST00000439117.6:c.*4441_*4457delinsCGCCTACTCCAACCCCA	ENSP00000406980.2:n.*4441_*4457delinsCGCCTACTCCAACCCCA
ENST00000439673.6:c.4965_4981delinsCGCCTACTCCAACCCCA	ENSP00000399232.2:p.Ala1655=
ENST00000497886.5:n.2997_3013delinsCGCCTACTCCAACCCCA
ENST00000568454.5:c.5106_5122delinsCGCCTACTCCAACCCCA	ENSP00000454487.1:p.Ala1702=
ENST00000569110.1:c.1456_1472delinsCGCCTACTCCAACCCCA
ENST00000569930.1:n.2389_2405delinsCGCCTACTCCAACCCCA
NM_000548.3:c.5274_5290delinsCGCCTACTCCAACCCCA , LRG_487t1:c.5274_5290delinsCGCCTACTCCAACCCCA	NP_000539.2:p.Ala1758=
NM_001077183.1:c.5073_5089delinsCGCCTACTCCAACCCCA	NP_001070651.1:p.Ala1691=
NM_001114382.1:c.5205_5221delinsCGCCTACTCCAACCCCA	NP_001107854.1:p.Ala1735=
XM_005255529.3:c.5145_5161delinsCGCCTACTCCAACCCCA	XP_005255586.2:p.Ala1715=
XM_005255531.3:c.5076_5092delinsCGCCTACTCCAACCCCA	XP_005255588.2:p.Ala1692=
XM_011522636.1:c.5328_5344delinsCGCCTACTCCAACCCCA	XP_011520938.1:p.Ala1776=
XM_011522637.1:c.5325_5341delinsCGCCTACTCCAACCCCA	XP_011520939.1:p.Ala1775=
XM_011522638.1:c.5217_5233delinsCGCCTACTCCAACCCCA	XP_011520940.1:p.Ala1739=
XM_011522639.1:c.5199_5215delinsCGCCTACTCCAACCCCA	XP_011520941.1:p.Ala1733=
XM_011522640.1:c.5196_5212delinsCGCCTACTCCAACCCCA	XP_011520942.1:p.Ala1732=
XM_011522641.1:c.4965_4981delinsCGCCTACTCCAACCCCA	XP_011520943.1:p.Ala1655=
NM_000548.4:c.5274_5290delinsCGCCTACTCCAACCCCA	NP_000539.2:p.Ala1758=
NM_001077183.2:c.5073_5089delinsCGCCTACTCCAACCCCA	NP_001070651.1:p.Ala1691=
NM_001114382.2:c.5205_5221delinsCGCCTACTCCAACCCCA	NP_001107854.1:p.Ala1735=
NM_001318827.1:c.4965_4981delinsCGCCTACTCCAACCCCA	NP_001305756.1:p.Ala1655=
NM_001318829.1:c.4929_4945delinsCGCCTACTCCAACCCCA	NP_001305758.1:p.Ala1643=
NM_001318831.1:c.4542_4558delinsCGCCTACTCCAACCCCA	NP_001305760.1:p.Ala1514=
NM_001318832.1:c.5106_5122delinsCGCCTACTCCAACCCCA	NP_001305761.1:p.Ala1702=
NM_001363528.1:c.5076_5092delinsCGCCTACTCCAACCCCA	NP_001350457.1:p.Ala1692=
NM_021055.2:c.5145_5161delinsCGCCTACTCCAACCCCA	NP_066399.2:p.Ala1715=
XM_005255531.4:c.5076_5092delinsCGCCTACTCCAACCCCA	XP_005255588.2:p.Ala1692=
XM_011522636.2:c.5328_5344delinsCGCCTACTCCAACCCCA	XP_011520938.1:p.Ala1776=
XM_011522637.2:c.5325_5341delinsCGCCTACTCCAACCCCA	XP_011520939.1:p.Ala1775=
XM_011522638.2:c.5490_5506delinsCGCCTACTCCAACCCCA	XP_011520940.2:p.Ala1830=
XM_011522639.2:c.5199_5215delinsCGCCTACTCCAACCCCA	XP_011520941.1:p.Ala1733=
XM_011522640.2:c.5196_5212delinsCGCCTACTCCAACCCCA	XP_011520942.1:p.Ala1732=
XM_017023615.1:c.5271_5287delinsCGCCTACTCCAACCCCA	XP_016879104.1:p.Ala1757=
XM_017023616.1:c.5142_5158delinsCGCCTACTCCAACCCCA	XP_016879105.1:p.Ala1714=
XM_017023617.1:c.5238_5254delinsCGCCTACTCCAACCCCA	XP_016879106.1:p.Ala1746=
XM_017023618.1:c.3984_4000delinsCGCCTACTCCAACCCCA	XP_016879107.1:p.Ala1328=
XM_024450413.1:c.5160_5176delinsCGCCTACTCCAACCCCA	XP_024306181.1:p.Ala1720=
NM_000548.5:c.5274_5290delinsCGCCTACTCCAACCCCA MANE Select	NP_000539.2:p.Ala1758=
NM_001370404.1:c.5142_5158delinsCGCCTACTCCAACCCCA	NP_001357333.1:p.Ala1714=
NM_001370405.1:c.5133_5149delinsCGCCTACTCCAACCCCA	NP_001357334.1:p.Ala1711=
NM_001077183.3:c.5073_5089delinsCGCCTACTCCAACCCCA	NP_001070651.1:p.Ala1691=
NM_001114382.3:c.5205_5221delinsCGCCTACTCCAACCCCA	NP_001107854.1:p.Ala1735=
NM_001318827.2:c.4965_4981delinsCGCCTACTCCAACCCCA	NP_001305756.1:p.Ala1655=
NM_001318829.2:c.4929_4945delinsCGCCTACTCCAACCCCA	NP_001305758.1:p.Ala1643=
NM_001318831.2:c.4542_4558delinsCGCCTACTCCAACCCCA	NP_001305760.1:p.Ala1514=
NM_001318832.2:c.5106_5122delinsCGCCTACTCCAACCCCA	NP_001305761.1:p.Ala1702=
NM_001363528.2:c.5076_5092delinsCGCCTACTCCAACCCCA	NP_001350457.1:p.Ala1692=
NM_021055.3:c.5145_5161delinsCGCCTACTCCAACCCCA	NP_066399.2:p.Ala1715=