Canonical Allele Identifier: CA1139664329

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2056702_2056703delinsCT , CM000678.2:g.2056702_2056703delinsCT	GRCh38
NC_000016.9:g.2106703_2106704delinsCT , CM000678.1:g.2106703_2106704delinsCT	GRCh37
NC_000016.8:g.2046704_2046705delinsCT	NCBI36
NG_005895.1:g.12397_12398delinsCT , LRG_487:g.12397_12398delinsCT

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.707_708delinsCT MANE Select	NP_000539.2:p.Leu236Pro
ENST00000219476.9:c.707_708delinsCT MANE Select	ENSP00000219476.3:p.Leu236Pro
NM_000548.3:c.707_708delinsCT , LRG_487t1:c.707_708delinsCT	NP_000539.2:p.Leu236Pro
NM_000548.4:c.707_708delinsCT	NP_000539.2:p.Leu236Pro
NM_001077183.1:c.707_708delinsCT	NP_001070651.1:p.Leu236Pro
NM_001077183.2:c.707_708delinsCT	NP_001070651.1:p.Leu236Pro
NM_001077183.3:c.707_708delinsCT	NP_001070651.1:p.Leu236Pro
NM_001114382.1:c.707_708delinsCT	NP_001107854.1:p.Leu236Pro
NM_001114382.2:c.707_708delinsCT	NP_001107854.1:p.Leu236Pro
NM_001114382.3:c.707_708delinsCT	NP_001107854.1:p.Leu236Pro
NM_001318827.1:c.596_597delinsCT	NP_001305756.1:p.Leu199Pro
NM_001318827.2:c.596_597delinsCT	NP_001305756.1:p.Leu199Pro
NM_001318829.1:c.560_561delinsCT	NP_001305758.1:p.Leu187Pro
NM_001318829.2:c.560_561delinsCT	NP_001305758.1:p.Leu187Pro
NM_001318831.1:c.107_108delinsCT	NP_001305760.1:p.Leu36Pro
NM_001318831.2:c.107_108delinsCT	NP_001305760.1:p.Leu36Pro
NM_001318832.1:c.740_741delinsCT	NP_001305761.1:p.Leu247Pro
NM_001318832.2:c.740_741delinsCT	NP_001305761.1:p.Leu247Pro
NM_001363528.1:c.707_708delinsCT	NP_001350457.1:p.Leu236Pro
NM_001363528.2:c.707_708delinsCT	NP_001350457.1:p.Leu236Pro
NM_001370404.1:c.707_708delinsCT	NP_001357333.1:p.Leu236Pro
NM_001370405.1:c.707_708delinsCT	NP_001357334.1:p.Leu236Pro
NM_021055.2:c.707_708delinsCT	NP_066399.2:p.Leu236Pro
NM_021055.3:c.707_708delinsCT	NP_066399.2:p.Leu236Pro
ENST00000219476.7:c.707_708delinsCT	ENSP00000219476.3:p.Leu236Pro
ENST00000350773.8:c.707_708delinsCT	ENSP00000344383.4:p.Leu236Pro
ENST00000350773.9:c.707_708delinsCT	ENSP00000344383.4:p.Leu236Pro
ENST00000382538.10:c.560_561delinsCT	ENSP00000371978.6:p.Leu187Pro
ENST00000401874.6:c.707_708delinsCT	ENSP00000384468.2:p.Leu236Pro
ENST00000401874.7:c.707_708delinsCT	ENSP00000384468.2:p.Leu236Pro
ENST00000439117.6:c.*6_*7delinsCT	ENSP00000406980.2:n.*6_*7delinsCT
ENST00000439673.6:c.596_597delinsCT	ENSP00000399232.2:p.Leu199Pro
ENST00000467949.1:c.143_144delinsCT	ENSP00000454997.1:p.Leu48Pro
ENST00000467949.2:n.159_160delinsCT
ENST00000568454.5:c.740_741delinsCT	ENSP00000454487.1:p.Leu247Pro
ENST00000568454.6:c.740_741delinsCT	ENSP00000454487.1:p.Leu247Pro
ENST00000568566.6:c.707_708delinsCT	ENSP00000455997.2:p.Leu236Pro
ENST00000642206.2:c.752_753delinsCT	ENSP00000495146.2:p.Leu251Pro
ENST00000642365.2:c.707_708delinsCT	ENSP00000495459.2:p.Leu236Pro
ENST00000642561.1:c.707_708delinsCT	ENSP00000495099.1:p.Leu236Pro
ENST00000642797.1:c.707_708delinsCT	ENSP00000493846.1:p.Leu236Pro
ENST00000642812.1:n.752_753delinsCT
ENST00000642936.1:c.707_708delinsCT	ENSP00000494514.1:p.Leu236Pro
ENST00000643088.1:c.707_708delinsCT	ENSP00000494747.1:p.Leu236Pro
ENST00000643149.1:n.1660_1661delinsCT
ENST00000643298.1:c.*209_*210delinsCT	ENSP00000494393.1:n.*209_*210delinsCT
ENST00000643745.1:c.707_708delinsCT	ENSP00000495948.1:p.Leu236Pro
ENST00000643946.1:c.707_708delinsCT	ENSP00000495927.1:p.Leu236Pro
ENST00000644043.1:c.707_708delinsCT	ENSP00000496262.1:p.Leu236Pro
ENST00000644135.1:c.707_708delinsCT	ENSP00000495644.1:p.Leu236Pro
ENST00000644222.1:n.794_795delinsCT
ENST00000644329.1:c.707_708delinsCT	ENSP00000496611.1:p.Leu236Pro
ENST00000644335.1:c.707_708delinsCT	ENSP00000496317.1:p.Leu236Pro
ENST00000644399.1:c.700_701delinsCT
ENST00000644417.1:c.405_406delinsCT	ENSP00000493912.1:n.405_406delinsCT
ENST00000644417.2:c.*144_*145delinsCT	ENSP00000493912.2:n.*144_*145delinsCT
ENST00000644665.1:n.824_825delinsCT
ENST00000645591.1:n.1678_1679delinsCT
ENST00000646388.1:c.707_708delinsCT	ENSP00000495921.1:p.Leu236Pro
ENST00000646464.2:c.*312_*313delinsCT	ENSP00000496610.2:n.*312_*313delinsCT
ENST00000646823.1:n.1095_1096delinsCT
ENST00000647234.1:n.1408_1409delinsCT
ENST00000647242.1:n.1375_1376delinsCT
XM_005255529.3:c.707_708delinsCT	XP_005255586.2:p.Leu236Pro
XM_005255531.3:c.707_708delinsCT	XP_005255588.2:p.Leu236Pro
XM_005255531.4:c.707_708delinsCT	XP_005255588.2:p.Leu236Pro
XM_011522636.1:c.707_708delinsCT	XP_011520938.1:p.Leu236Pro
XM_011522636.2:c.707_708delinsCT	XP_011520938.1:p.Leu236Pro
XM_011522637.1:c.707_708delinsCT	XP_011520939.1:p.Leu236Pro
XM_011522637.2:c.707_708delinsCT	XP_011520939.1:p.Leu236Pro
XM_011522638.1:c.596_597delinsCT	XP_011520940.1:p.Leu199Pro
XM_011522638.2:c.869_870delinsCT	XP_011520940.2:p.Leu290Pro
XM_011522639.1:c.707_708delinsCT	XP_011520941.1:p.Leu236Pro
XM_011522639.2:c.707_708delinsCT	XP_011520941.1:p.Leu236Pro
XM_011522640.1:c.707_708delinsCT	XP_011520942.1:p.Leu236Pro
XM_011522640.2:c.707_708delinsCT	XP_011520942.1:p.Leu236Pro
XM_011522641.1:c.596_597delinsCT	XP_011520943.1:p.Leu199Pro
XM_017023615.1:c.707_708delinsCT	XP_016879104.1:p.Leu236Pro
XM_017023616.1:c.707_708delinsCT	XP_016879105.1:p.Leu236Pro
XM_017023617.1:c.869_870delinsCT	XP_016879106.1:p.Leu290Pro
XM_017023618.1:c.-725_-724delinsCT	XP_016879107.1:n.-725_-724delinsCT
XM_024450413.1:c.707_708delinsCT	XP_024306181.1:p.Leu236Pro