Canonical Allele Identifier: CA3265648708

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084351_2084451del , CM000678.2:g.2084351_2084451del	GRCh38
NC_000016.9:g.2134352_2134452del , CM000678.1:g.2134352_2134452del	GRCh37
NC_000016.8:g.2074353_2074453del	NCBI36
NG_005895.1:g.40046_40146del , LRG_487:g.40046_40146del

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4129_4229del MANE Select	NP_000539.2:p.Gln1377GlufsTer3
ENST00000219476.9:c.4129_4229del MANE Select	ENSP00000219476.3:p.Gln1377GlufsTer3
NM_000548.3:c.4129_4229del , LRG_487t1:c.4129_4229del	NP_000539.2:p.Gln1377GlufsTer3
NM_000548.4:c.4129_4229del	NP_000539.2:p.Gln1377GlufsTer3
NM_001077183.1:c.3928_4028del	NP_001070651.1:p.Gln1310GlufsTer3
NM_001077183.2:c.3928_4028del	NP_001070651.1:p.Gln1310GlufsTer3
NM_001077183.3:c.3928_4028del	NP_001070651.1:p.Gln1310GlufsTer3
NM_001114382.1:c.4060_4160del	NP_001107854.1:p.Gln1354GlufsTer3
NM_001114382.2:c.4060_4160del	NP_001107854.1:p.Gln1354GlufsTer3
NM_001114382.3:c.4060_4160del	NP_001107854.1:p.Gln1354GlufsTer3
NM_001318827.1:c.3820_3920del	NP_001305756.1:p.Gln1274GlufsTer3
NM_001318827.2:c.3820_3920del	NP_001305756.1:p.Gln1274GlufsTer3
NM_001318829.1:c.3784_3884del	NP_001305758.1:p.Gln1262GlufsTer3
NM_001318829.2:c.3784_3884del	NP_001305758.1:p.Gln1262GlufsTer3
NM_001318831.1:c.3397_3497del	NP_001305760.1:p.Gln1133GlufsTer3
NM_001318831.2:c.3397_3497del	NP_001305760.1:p.Gln1133GlufsTer3
NM_001318832.1:c.3961_4061del	NP_001305761.1:p.Gln1321GlufsTer3
NM_001318832.2:c.3961_4061del	NP_001305761.1:p.Gln1321GlufsTer3
NM_001363528.1:c.3931_4031del	NP_001350457.1:p.Gln1311GlufsTer3
NM_001363528.2:c.3931_4031del	NP_001350457.1:p.Gln1311GlufsTer3
NM_001370404.1:c.3997_4097del	NP_001357333.1:p.Gln1333GlufsTer3
NM_001370405.1:c.4000_4100del	NP_001357334.1:p.Gln1334GlufsTer3
NM_021055.2:c.4000_4100del	NP_066399.2:p.Gln1334GlufsTer3
NM_021055.3:c.4000_4100del	NP_066399.2:p.Gln1334GlufsTer3
ENST00000219476.7:c.4129_4229del	ENSP00000219476.3:p.Gln1377GlufsTer3
ENST00000350773.8:c.4060_4160del	ENSP00000344383.4:p.Gln1354GlufsTer3
ENST00000350773.9:c.4060_4160del	ENSP00000344383.4:p.Gln1354GlufsTer3
ENST00000382538.10:c.3784_3884del	ENSP00000371978.6:p.Gln1262GlufsTer3
ENST00000401874.6:c.3928_4028del	ENSP00000384468.2:p.Gln1310GlufsTer3
ENST00000401874.7:c.3928_4028del	ENSP00000384468.2:p.Gln1310GlufsTer3
ENST00000439117.6:c.*3296_*3396del	ENSP00000406980.2:n.*3296_*3396del
ENST00000439673.6:c.3820_3920del	ENSP00000399232.2:p.Gln1274GlufsTer3
ENST00000497886.5:n.1887_1987del
ENST00000568454.5:c.3961_4061del	ENSP00000454487.1:p.Gln1321GlufsTer3
ENST00000568454.6:c.3961_4061del	ENSP00000454487.1:p.Gln1321GlufsTer3
ENST00000568566.6:c.*2478_*2578del	ENSP00000455997.2:n.*2478_*2578del
ENST00000569110.1:c.311_411del
ENST00000569110.2:c.365_465del
ENST00000569930.1:n.1244_1344del
ENST00000569930.2:n.2011_2111del
ENST00000642206.2:c.3976_4076del	ENSP00000495146.2:p.Gln1326GlufsTer3
ENST00000642365.1:c.2783_2883del
ENST00000642365.2:c.4126_4226del	ENSP00000495459.2:p.Gln1376GlufsTer3
ENST00000642561.1:c.4000_4100del	ENSP00000495099.1:p.Gln1334GlufsTer3
ENST00000642728.1:n.311_411del
ENST00000642797.1:c.3931_4031del	ENSP00000493846.1:p.Gln1311GlufsTer3
ENST00000642936.1:c.3997_4097del	ENSP00000494514.1:p.Gln1333GlufsTer3
ENST00000643088.1:c.3928_4028del	ENSP00000494747.1:p.Gln1310GlufsTer3
ENST00000643177.1:n.143_243del
ENST00000643426.1:n.1777_1877del
ENST00000643946.1:c.4060_4160del	ENSP00000495927.1:p.Gln1354GlufsTer3
ENST00000644043.1:c.4000_4100del	ENSP00000496262.1:p.Gln1334GlufsTer3
ENST00000644329.1:c.3928_4028del	ENSP00000496611.1:p.Gln1310GlufsTer3
ENST00000644335.1:c.3931_4031del	ENSP00000496317.1:p.Gln1311GlufsTer3
ENST00000644399.1:c.4050_4150del
ENST00000644417.2:c.*4509_*4609del	ENSP00000493912.2:n.*4509_*4609del
ENST00000645024.1:n.2213_2313del
ENST00000645186.1:c.372_472del
ENST00000646388.1:c.4129_4229del	ENSP00000495921.1:p.Gln1377GlufsTer3
ENST00000646464.2:c.*6878_*6978del	ENSP00000496610.2:n.*6878_*6978del
ENST00000646634.1:n.2944_3044del
ENST00000646674.1:n.1381_1481del
ENST00000647042.1:n.1352_1452del
ENST00000647180.1:n.1242_1342del
XM_005255529.3:c.4000_4100del	XP_005255586.2:p.Gln1334GlufsTer3
XM_005255531.3:c.3931_4031del	XP_005255588.2:p.Gln1311GlufsTer3
XM_005255531.4:c.3931_4031del	XP_005255588.2:p.Gln1311GlufsTer3
XM_011522636.1:c.4183_4283del	XP_011520938.1:p.Gln1395GlufsTer3
XM_011522636.2:c.4183_4283del	XP_011520938.1:p.Gln1395GlufsTer3
XM_011522637.1:c.4180_4280del	XP_011520939.1:p.Gln1394GlufsTer3
XM_011522637.2:c.4180_4280del	XP_011520939.1:p.Gln1394GlufsTer3
XM_011522638.1:c.4072_4172del	XP_011520940.1:p.Gln1358GlufsTer3
XM_011522638.2:c.4345_4445del	XP_011520940.2:p.Gln1449GlufsTer3
XM_011522639.1:c.4054_4154del	XP_011520941.1:p.Gln1352GlufsTer3
XM_011522639.2:c.4054_4154del	XP_011520941.1:p.Gln1352GlufsTer3
XM_011522640.1:c.4051_4151del	XP_011520942.1:p.Gln1351GlufsTer3
XM_011522640.2:c.4051_4151del	XP_011520942.1:p.Gln1351GlufsTer3
XM_011522641.1:c.3820_3920del	XP_011520943.1:p.Gln1274GlufsTer3
XM_017023615.1:c.4126_4226del	XP_016879104.1:p.Gln1376GlufsTer3
XM_017023616.1:c.3997_4097del	XP_016879105.1:p.Gln1333GlufsTer3
XM_017023617.1:c.4093_4193del	XP_016879106.1:p.Gln1365GlufsTer3
XM_017023618.1:c.2839_2939del	XP_016879107.1:p.Gln947GlufsTer3
XM_024450413.1:c.3928_4028del	XP_024306181.1:p.Gln1310GlufsTer3