Canonical Allele Identifier: CA3265648714

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084417_2084481del , CM000678.2:g.2084417_2084481del	GRCh38
NC_000016.9:g.2134418_2134482del , CM000678.1:g.2134418_2134482del	GRCh37
NC_000016.8:g.2074419_2074483del	NCBI36
NG_005895.1:g.40112_40176del , LRG_487:g.40112_40176del

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4195_4259del MANE Select	NP_000539.2:p.Gly1399ArgfsTer?
ENST00000219476.9:c.4195_4259del MANE Select	ENSP00000219476.3:p.Gly1399ArgfsTer?
NM_000548.3:c.4195_4259del , LRG_487t1:c.4195_4259del	NP_000539.2:p.Gly1399ArgfsTer?
NM_000548.4:c.4195_4259del	NP_000539.2:p.Gly1399ArgfsTer?
NM_001077183.1:c.3994_4058del	NP_001070651.1:p.Gly1332ArgfsTer?
NM_001077183.2:c.3994_4058del	NP_001070651.1:p.Gly1332ArgfsTer?
NM_001077183.3:c.3994_4058del	NP_001070651.1:p.Gly1332ArgfsTer?
NM_001114382.1:c.4126_4190del	NP_001107854.1:p.Gly1376ArgfsTer?
NM_001114382.2:c.4126_4190del	NP_001107854.1:p.Gly1376ArgfsTer?
NM_001114382.3:c.4126_4190del	NP_001107854.1:p.Gly1376ArgfsTer?
NM_001318827.1:c.3886_3950del	NP_001305756.1:p.Gly1296ArgfsTer?
NM_001318827.2:c.3886_3950del	NP_001305756.1:p.Gly1296ArgfsTer?
NM_001318829.1:c.3850_3914del	NP_001305758.1:p.Gly1284ArgfsTer?
NM_001318829.2:c.3850_3914del	NP_001305758.1:p.Gly1284ArgfsTer?
NM_001318831.1:c.3463_3527del	NP_001305760.1:p.Gly1155ArgfsTer?
NM_001318831.2:c.3463_3527del	NP_001305760.1:p.Gly1155ArgfsTer?
NM_001318832.1:c.4027_4091del	NP_001305761.1:p.Gly1343ArgfsTer?
NM_001318832.2:c.4027_4091del	NP_001305761.1:p.Gly1343ArgfsTer?
NM_001363528.1:c.3997_4061del	NP_001350457.1:p.Gly1333ArgfsTer?
NM_001363528.2:c.3997_4061del	NP_001350457.1:p.Gly1333ArgfsTer?
NM_001370404.1:c.4063_4127del	NP_001357333.1:p.Gly1355ArgfsTer?
NM_001370405.1:c.4066_4130del	NP_001357334.1:p.Gly1356ArgfsTer?
NM_021055.2:c.4066_4130del	NP_066399.2:p.Gly1356ArgfsTer?
NM_021055.3:c.4066_4130del	NP_066399.2:p.Gly1356ArgfsTer?
ENST00000219476.7:c.4195_4259del	ENSP00000219476.3:p.Gly1399ArgfsTer?
ENST00000350773.8:c.4126_4190del	ENSP00000344383.4:p.Gly1376ArgfsTer?
ENST00000350773.9:c.4126_4190del	ENSP00000344383.4:p.Gly1376ArgfsTer?
ENST00000382538.10:c.3850_3914del	ENSP00000371978.6:p.Gly1284ArgfsTer?
ENST00000401874.6:c.3994_4058del	ENSP00000384468.2:p.Gly1332ArgfsTer?
ENST00000401874.7:c.3994_4058del	ENSP00000384468.2:p.Gly1332ArgfsTer?
ENST00000439117.6:c.*3362_*3426del	ENSP00000406980.2:n.*3362_*3426del
ENST00000439673.6:c.3886_3950del	ENSP00000399232.2:p.Gly1296ArgfsTer?
ENST00000497886.5:n.1953_2017del
ENST00000568454.5:c.4027_4091del	ENSP00000454487.1:p.Gly1343ArgfsTer?
ENST00000568454.6:c.4027_4091del	ENSP00000454487.1:p.Gly1343ArgfsTer?
ENST00000568566.6:c.*2544_*2608del	ENSP00000455997.2:n.*2544_*2608del
ENST00000569110.1:c.377_441del
ENST00000569110.2:c.431_495del
ENST00000569930.1:n.1310_1374del
ENST00000569930.2:n.2077_2141del
ENST00000642206.2:c.4042_4106del	ENSP00000495146.2:p.Gly1348ArgfsTer?
ENST00000642365.1:c.2849_2913del
ENST00000642365.2:c.4192_4256del	ENSP00000495459.2:p.Gly1398ArgfsTer?
ENST00000642561.1:c.4066_4130del	ENSP00000495099.1:p.Gly1356ArgfsTer?
ENST00000642728.1:n.377_441del
ENST00000642797.1:c.3997_4061del	ENSP00000493846.1:p.Gly1333ArgfsTer?
ENST00000642936.1:c.4063_4127del	ENSP00000494514.1:p.Gly1355ArgfsTer?
ENST00000643088.1:c.3994_4058del	ENSP00000494747.1:p.Gly1332ArgfsTer?
ENST00000643177.1:n.209_273del
ENST00000643426.1:n.1843_1907del
ENST00000643946.1:c.4126_4190del	ENSP00000495927.1:p.Gly1376ArgfsTer?
ENST00000644043.1:c.4066_4130del	ENSP00000496262.1:p.Gly1356ArgfsTer?
ENST00000644329.1:c.3994_4058del	ENSP00000496611.1:p.Gly1332ArgfsTer?
ENST00000644335.1:c.3997_4061del	ENSP00000496317.1:p.Gly1333ArgfsTer?
ENST00000644399.1:c.4116_4180del
ENST00000644417.2:c.*4575_*4639del	ENSP00000493912.2:n.*4575_*4639del
ENST00000645024.1:n.2279_2343del
ENST00000645186.1:c.438_502del
ENST00000646388.1:c.4195_4259del	ENSP00000495921.1:p.Gly1399ArgfsTer?
ENST00000646464.2:c.*6944_*7008del	ENSP00000496610.2:n.*6944_*7008del
ENST00000646634.1:n.3010_3074del
ENST00000646674.1:n.1447_1511del
ENST00000647042.1:n.1418_1482del
ENST00000647180.1:n.1308_1372del
XM_005255529.3:c.4066_4130del	XP_005255586.2:p.Gly1356ArgfsTer?
XM_005255531.3:c.3997_4061del	XP_005255588.2:p.Gly1333ArgfsTer?
XM_005255531.4:c.3997_4061del	XP_005255588.2:p.Gly1333ArgfsTer?
XM_011522636.1:c.4249_4313del	XP_011520938.1:p.Gly1417ArgfsTer?
XM_011522636.2:c.4249_4313del	XP_011520938.1:p.Gly1417ArgfsTer?
XM_011522637.1:c.4246_4310del	XP_011520939.1:p.Gly1416ArgfsTer?
XM_011522637.2:c.4246_4310del	XP_011520939.1:p.Gly1416ArgfsTer?
XM_011522638.1:c.4138_4202del	XP_011520940.1:p.Gly1380ArgfsTer?
XM_011522638.2:c.4411_4475del	XP_011520940.2:p.Gly1471ArgfsTer?
XM_011522639.1:c.4120_4184del	XP_011520941.1:p.Gly1374ArgfsTer?
XM_011522639.2:c.4120_4184del	XP_011520941.1:p.Gly1374ArgfsTer?
XM_011522640.1:c.4117_4181del	XP_011520942.1:p.Gly1373ArgfsTer?
XM_011522640.2:c.4117_4181del	XP_011520942.1:p.Gly1373ArgfsTer?
XM_011522641.1:c.3886_3950del	XP_011520943.1:p.Gly1296ArgfsTer?
XM_017023615.1:c.4192_4256del	XP_016879104.1:p.Gly1398ArgfsTer?
XM_017023616.1:c.4063_4127del	XP_016879105.1:p.Gly1355ArgfsTer?
XM_017023617.1:c.4159_4223del	XP_016879106.1:p.Gly1387ArgfsTer?
XM_017023618.1:c.2905_2969del	XP_016879107.1:p.Gly969ArgfsTer?
XM_024450413.1:c.3994_4058del	XP_024306181.1:p.Gly1332ArgfsTer?