Canonical Allele Identifier: CA3265648712

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084414_2084478del , CM000678.2:g.2084414_2084478del	GRCh38
NC_000016.9:g.2134415_2134479del , CM000678.1:g.2134415_2134479del	GRCh37
NC_000016.8:g.2074416_2074480del	NCBI36
NG_005895.1:g.40109_40173del , LRG_487:g.40109_40173del

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4192_4256del MANE Select	NP_000539.2:p.Leu1398ValfsTer?
ENST00000219476.9:c.4192_4256del MANE Select	ENSP00000219476.3:p.Leu1398ValfsTer?
NM_000548.3:c.4192_4256del , LRG_487t1:c.4192_4256del	NP_000539.2:p.Leu1398ValfsTer?
NM_000548.4:c.4192_4256del	NP_000539.2:p.Leu1398ValfsTer?
NM_001077183.1:c.3991_4055del	NP_001070651.1:p.Leu1331ValfsTer?
NM_001077183.2:c.3991_4055del	NP_001070651.1:p.Leu1331ValfsTer?
NM_001077183.3:c.3991_4055del	NP_001070651.1:p.Leu1331ValfsTer?
NM_001114382.1:c.4123_4187del	NP_001107854.1:p.Leu1375ValfsTer?
NM_001114382.2:c.4123_4187del	NP_001107854.1:p.Leu1375ValfsTer?
NM_001114382.3:c.4123_4187del	NP_001107854.1:p.Leu1375ValfsTer?
NM_001318827.1:c.3883_3947del	NP_001305756.1:p.Leu1295ValfsTer?
NM_001318827.2:c.3883_3947del	NP_001305756.1:p.Leu1295ValfsTer?
NM_001318829.1:c.3847_3911del	NP_001305758.1:p.Leu1283ValfsTer?
NM_001318829.2:c.3847_3911del	NP_001305758.1:p.Leu1283ValfsTer?
NM_001318831.1:c.3460_3524del	NP_001305760.1:p.Leu1154ValfsTer?
NM_001318831.2:c.3460_3524del	NP_001305760.1:p.Leu1154ValfsTer?
NM_001318832.1:c.4024_4088del	NP_001305761.1:p.Leu1342ValfsTer?
NM_001318832.2:c.4024_4088del	NP_001305761.1:p.Leu1342ValfsTer?
NM_001363528.1:c.3994_4058del	NP_001350457.1:p.Leu1332ValfsTer?
NM_001363528.2:c.3994_4058del	NP_001350457.1:p.Leu1332ValfsTer?
NM_001370404.1:c.4060_4124del	NP_001357333.1:p.Leu1354ValfsTer?
NM_001370405.1:c.4063_4127del	NP_001357334.1:p.Leu1355ValfsTer?
NM_021055.2:c.4063_4127del	NP_066399.2:p.Leu1355ValfsTer?
NM_021055.3:c.4063_4127del	NP_066399.2:p.Leu1355ValfsTer?
ENST00000219476.7:c.4192_4256del	ENSP00000219476.3:p.Leu1398ValfsTer?
ENST00000350773.8:c.4123_4187del	ENSP00000344383.4:p.Leu1375ValfsTer?
ENST00000350773.9:c.4123_4187del	ENSP00000344383.4:p.Leu1375ValfsTer?
ENST00000382538.10:c.3847_3911del	ENSP00000371978.6:p.Leu1283ValfsTer?
ENST00000401874.6:c.3991_4055del	ENSP00000384468.2:p.Leu1331ValfsTer?
ENST00000401874.7:c.3991_4055del	ENSP00000384468.2:p.Leu1331ValfsTer?
ENST00000439117.6:c.*3359_*3423del	ENSP00000406980.2:n.*3359_*3423del
ENST00000439673.6:c.3883_3947del	ENSP00000399232.2:p.Leu1295ValfsTer?
ENST00000497886.5:n.1950_2014del
ENST00000568454.5:c.4024_4088del	ENSP00000454487.1:p.Leu1342ValfsTer?
ENST00000568454.6:c.4024_4088del	ENSP00000454487.1:p.Leu1342ValfsTer?
ENST00000568566.6:c.*2541_*2605del	ENSP00000455997.2:n.*2541_*2605del
ENST00000569110.1:c.374_438del
ENST00000569110.2:c.428_492del
ENST00000569930.1:n.1307_1371del
ENST00000569930.2:n.2074_2138del
ENST00000642206.2:c.4039_4103del	ENSP00000495146.2:p.Leu1347ValfsTer?
ENST00000642365.1:c.2846_2910del
ENST00000642365.2:c.4189_4253del	ENSP00000495459.2:p.Leu1397ValfsTer?
ENST00000642561.1:c.4063_4127del	ENSP00000495099.1:p.Leu1355ValfsTer?
ENST00000642728.1:n.374_438del
ENST00000642797.1:c.3994_4058del	ENSP00000493846.1:p.Leu1332ValfsTer?
ENST00000642936.1:c.4060_4124del	ENSP00000494514.1:p.Leu1354ValfsTer?
ENST00000643088.1:c.3991_4055del	ENSP00000494747.1:p.Leu1331ValfsTer?
ENST00000643177.1:n.206_270del
ENST00000643426.1:n.1840_1904del
ENST00000643946.1:c.4123_4187del	ENSP00000495927.1:p.Leu1375ValfsTer?
ENST00000644043.1:c.4063_4127del	ENSP00000496262.1:p.Leu1355ValfsTer?
ENST00000644329.1:c.3991_4055del	ENSP00000496611.1:p.Leu1331ValfsTer?
ENST00000644335.1:c.3994_4058del	ENSP00000496317.1:p.Leu1332ValfsTer?
ENST00000644399.1:c.4113_4177del
ENST00000644417.2:c.*4572_*4636del	ENSP00000493912.2:n.*4572_*4636del
ENST00000645024.1:n.2276_2340del
ENST00000645186.1:c.435_499del
ENST00000646388.1:c.4192_4256del	ENSP00000495921.1:p.Leu1398ValfsTer?
ENST00000646464.2:c.*6941_*7005del	ENSP00000496610.2:n.*6941_*7005del
ENST00000646634.1:n.3007_3071del
ENST00000646674.1:n.1444_1508del
ENST00000647042.1:n.1415_1479del
ENST00000647180.1:n.1305_1369del
XM_005255529.3:c.4063_4127del	XP_005255586.2:p.Leu1355ValfsTer?
XM_005255531.3:c.3994_4058del	XP_005255588.2:p.Leu1332ValfsTer?
XM_005255531.4:c.3994_4058del	XP_005255588.2:p.Leu1332ValfsTer?
XM_011522636.1:c.4246_4310del	XP_011520938.1:p.Leu1416ValfsTer?
XM_011522636.2:c.4246_4310del	XP_011520938.1:p.Leu1416ValfsTer?
XM_011522637.1:c.4243_4307del	XP_011520939.1:p.Leu1415ValfsTer?
XM_011522637.2:c.4243_4307del	XP_011520939.1:p.Leu1415ValfsTer?
XM_011522638.1:c.4135_4199del	XP_011520940.1:p.Leu1379ValfsTer?
XM_011522638.2:c.4408_4472del	XP_011520940.2:p.Leu1470ValfsTer?
XM_011522639.1:c.4117_4181del	XP_011520941.1:p.Leu1373ValfsTer?
XM_011522639.2:c.4117_4181del	XP_011520941.1:p.Leu1373ValfsTer?
XM_011522640.1:c.4114_4178del	XP_011520942.1:p.Leu1372ValfsTer?
XM_011522640.2:c.4114_4178del	XP_011520942.1:p.Leu1372ValfsTer?
XM_011522641.1:c.3883_3947del	XP_011520943.1:p.Leu1295ValfsTer?
XM_017023615.1:c.4189_4253del	XP_016879104.1:p.Leu1397ValfsTer?
XM_017023616.1:c.4060_4124del	XP_016879105.1:p.Leu1354ValfsTer?
XM_017023617.1:c.4156_4220del	XP_016879106.1:p.Leu1386ValfsTer?
XM_017023618.1:c.2902_2966del	XP_016879107.1:p.Leu968ValfsTer?
XM_024450413.1:c.3991_4055del	XP_024306181.1:p.Leu1331ValfsTer?