Canonical Allele Identifier: CA3267547644

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084356_2084520del , CM000678.2:g.2084356_2084520del	GRCh38
NC_000016.9:g.2134357_2134521del , CM000678.1:g.2134357_2134521del	GRCh37
NC_000016.8:g.2074358_2074522del	NCBI36
NG_005895.1:g.40051_40215del , LRG_487:g.40051_40215del

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4134_4298del MANE Select	NP_000539.2:p.Ser1379_Ser1433del
ENST00000219476.9:c.4134_4298del MANE Select	ENSP00000219476.3:p.Ser1379_Ser1433del
NM_000548.3:c.4134_4298del , LRG_487t1:c.4134_4298del	NP_000539.2:p.Ser1379_Ser1433del
NM_000548.4:c.4134_4298del	NP_000539.2:p.Ser1379_Ser1433del
NM_001077183.1:c.3933_4097del	NP_001070651.1:p.Ser1312_Ser1366del
NM_001077183.2:c.3933_4097del	NP_001070651.1:p.Ser1312_Ser1366del
NM_001077183.3:c.3933_4097del	NP_001070651.1:p.Ser1312_Ser1366del
NM_001114382.1:c.4065_4229del	NP_001107854.1:p.Ser1356_Ser1410del
NM_001114382.2:c.4065_4229del	NP_001107854.1:p.Ser1356_Ser1410del
NM_001114382.3:c.4065_4229del	NP_001107854.1:p.Ser1356_Ser1410del
NM_001318827.1:c.3825_3989del	NP_001305756.1:p.Ser1276_Ser1330del
NM_001318827.2:c.3825_3989del	NP_001305756.1:p.Ser1276_Ser1330del
NM_001318829.1:c.3789_3953del	NP_001305758.1:p.Ser1264_Ser1318del
NM_001318829.2:c.3789_3953del	NP_001305758.1:p.Ser1264_Ser1318del
NM_001318831.1:c.3402_3566del	NP_001305760.1:p.Ser1135_Ser1189del
NM_001318831.2:c.3402_3566del	NP_001305760.1:p.Ser1135_Ser1189del
NM_001318832.1:c.3966_4130del	NP_001305761.1:p.Ser1323_Ser1377del
NM_001318832.2:c.3966_4130del	NP_001305761.1:p.Ser1323_Ser1377del
NM_001363528.1:c.3936_4100del	NP_001350457.1:p.Ser1313_Ser1367del
NM_001363528.2:c.3936_4100del	NP_001350457.1:p.Ser1313_Ser1367del
NM_001370404.1:c.4002_4166del	NP_001357333.1:p.Ser1335_Ser1389del
NM_001370405.1:c.4005_4169del	NP_001357334.1:p.Ser1336_Ser1390del
NM_021055.2:c.4005_4169del	NP_066399.2:p.Ser1336_Ser1390del
NM_021055.3:c.4005_4169del	NP_066399.2:p.Ser1336_Ser1390del
ENST00000219476.7:c.4134_4298del	ENSP00000219476.3:p.Ser1379_Ser1433del
ENST00000350773.8:c.4065_4229del	ENSP00000344383.4:p.Ser1356_Ser1410del
ENST00000350773.9:c.4065_4229del	ENSP00000344383.4:p.Ser1356_Ser1410del
ENST00000382538.10:c.3789_3953del	ENSP00000371978.6:p.Ser1264_Ser1318del
ENST00000401874.6:c.3933_4097del	ENSP00000384468.2:p.Ser1312_Ser1366del
ENST00000401874.7:c.3933_4097del	ENSP00000384468.2:p.Ser1312_Ser1366del
ENST00000439117.6:c.*3301_*3465del	ENSP00000406980.2:n.*3301_*3465del
ENST00000439673.6:c.3825_3989del	ENSP00000399232.2:p.Ser1276_Ser1330del
ENST00000497886.5:n.1892_2056del
ENST00000568454.5:c.3966_4130del	ENSP00000454487.1:p.Ser1323_Ser1377del
ENST00000568454.6:c.3966_4130del	ENSP00000454487.1:p.Ser1323_Ser1377del
ENST00000568566.6:c.*2483_*2647del	ENSP00000455997.2:n.*2483_*2647del
ENST00000569110.1:c.316_480del
ENST00000569110.2:c.370_534del
ENST00000569930.1:n.1249_1413del
ENST00000569930.2:n.2016_2180del
ENST00000642206.2:c.3981_4145del	ENSP00000495146.2:p.Ser1328_Ser1382del
ENST00000642365.1:c.2788_2952del
ENST00000642365.2:c.4131_4295del	ENSP00000495459.2:p.Ser1378_Ser1432del
ENST00000642561.1:c.4005_4169del	ENSP00000495099.1:p.Ser1336_Ser1390del
ENST00000642728.1:n.316_480del
ENST00000642797.1:c.3936_4100del	ENSP00000493846.1:p.Ser1313_Ser1367del
ENST00000642936.1:c.4002_4166del	ENSP00000494514.1:p.Ser1335_Ser1389del
ENST00000643088.1:c.3933_4097del	ENSP00000494747.1:p.Ser1312_Ser1366del
ENST00000643177.1:n.148_312del
ENST00000643426.1:n.1782_1946del
ENST00000643946.1:c.4065_4229del	ENSP00000495927.1:p.Ser1356_Ser1410del
ENST00000644043.1:c.4005_4169del	ENSP00000496262.1:p.Ser1336_Ser1390del
ENST00000644329.1:c.3933_4097del	ENSP00000496611.1:p.Ser1312_Ser1366del
ENST00000644335.1:c.3936_4100del	ENSP00000496317.1:p.Ser1313_Ser1367del
ENST00000644399.1:c.4055_4219del
ENST00000644417.2:c.*4514_*4678del	ENSP00000493912.2:n.*4514_*4678del
ENST00000645024.1:n.2218_2382del
ENST00000645186.1:c.377_541del
ENST00000646388.1:c.4134_4298del	ENSP00000495921.1:p.Ser1379_Ser1433del
ENST00000646464.2:c.*6883_*7047del	ENSP00000496610.2:n.*6883_*7047del
ENST00000646634.1:n.2949_3113del
ENST00000646674.1:n.1386_1550del
ENST00000647042.1:n.1357_1521del
ENST00000647180.1:n.1247_1411del
XM_005255529.3:c.4005_4169del	XP_005255586.2:p.Ser1336_Ser1390del
XM_005255531.3:c.3936_4100del	XP_005255588.2:p.Ser1313_Ser1367del
XM_005255531.4:c.3936_4100del	XP_005255588.2:p.Ser1313_Ser1367del
XM_011522636.1:c.4188_4352del	XP_011520938.1:p.Ser1397_Ser1451del
XM_011522636.2:c.4188_4352del	XP_011520938.1:p.Ser1397_Ser1451del
XM_011522637.1:c.4185_4349del	XP_011520939.1:p.Ser1396_Ser1450del
XM_011522637.2:c.4185_4349del	XP_011520939.1:p.Ser1396_Ser1450del
XM_011522638.1:c.4077_4241del	XP_011520940.1:p.Ser1360_Ser1414del
XM_011522638.2:c.4350_4514del	XP_011520940.2:p.Ser1451_Ser1505del
XM_011522639.1:c.4059_4223del	XP_011520941.1:p.Ser1354_Ser1408del
XM_011522639.2:c.4059_4223del	XP_011520941.1:p.Ser1354_Ser1408del
XM_011522640.1:c.4056_4220del	XP_011520942.1:p.Ser1353_Ser1407del
XM_011522640.2:c.4056_4220del	XP_011520942.1:p.Ser1353_Ser1407del
XM_011522641.1:c.3825_3989del	XP_011520943.1:p.Ser1276_Ser1330del
XM_017023615.1:c.4131_4295del	XP_016879104.1:p.Ser1378_Ser1432del
XM_017023616.1:c.4002_4166del	XP_016879105.1:p.Ser1335_Ser1389del
XM_017023617.1:c.4098_4262del	XP_016879106.1:p.Ser1367_Ser1421del
XM_017023618.1:c.2844_3008del	XP_016879107.1:p.Ser949_Ser1003del
XM_024450413.1:c.3933_4097del	XP_024306181.1:p.Ser1312_Ser1366del