Canonical Allele Identifier: CA3265648709

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084363_2084453del , CM000678.2:g.2084363_2084453del	GRCh38
NC_000016.9:g.2134364_2134454del , CM000678.1:g.2134364_2134454del	GRCh37
NC_000016.8:g.2074365_2074455del	NCBI36
NG_005895.1:g.40058_40148del , LRG_487:g.40058_40148del

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4141_4231del MANE Select	NP_000539.2:p.Pro1381AlafsTer?
ENST00000219476.9:c.4141_4231del MANE Select	ENSP00000219476.3:p.Pro1381AlafsTer?
NM_000548.3:c.4141_4231del , LRG_487t1:c.4141_4231del	NP_000539.2:p.Pro1381AlafsTer?
NM_000548.4:c.4141_4231del	NP_000539.2:p.Pro1381AlafsTer?
NM_001077183.1:c.3940_4030del	NP_001070651.1:p.Pro1314AlafsTer?
NM_001077183.2:c.3940_4030del	NP_001070651.1:p.Pro1314AlafsTer?
NM_001077183.3:c.3940_4030del	NP_001070651.1:p.Pro1314AlafsTer?
NM_001114382.1:c.4072_4162del	NP_001107854.1:p.Pro1358AlafsTer?
NM_001114382.2:c.4072_4162del	NP_001107854.1:p.Pro1358AlafsTer?
NM_001114382.3:c.4072_4162del	NP_001107854.1:p.Pro1358AlafsTer?
NM_001318827.1:c.3832_3922del	NP_001305756.1:p.Pro1278AlafsTer?
NM_001318827.2:c.3832_3922del	NP_001305756.1:p.Pro1278AlafsTer?
NM_001318829.1:c.3796_3886del	NP_001305758.1:p.Pro1266AlafsTer?
NM_001318829.2:c.3796_3886del	NP_001305758.1:p.Pro1266AlafsTer?
NM_001318831.1:c.3409_3499del	NP_001305760.1:p.Pro1137AlafsTer?
NM_001318831.2:c.3409_3499del	NP_001305760.1:p.Pro1137AlafsTer?
NM_001318832.1:c.3973_4063del	NP_001305761.1:p.Pro1325AlafsTer?
NM_001318832.2:c.3973_4063del	NP_001305761.1:p.Pro1325AlafsTer?
NM_001363528.1:c.3943_4033del	NP_001350457.1:p.Pro1315AlafsTer?
NM_001363528.2:c.3943_4033del	NP_001350457.1:p.Pro1315AlafsTer?
NM_001370404.1:c.4009_4099del	NP_001357333.1:p.Pro1337AlafsTer?
NM_001370405.1:c.4012_4102del	NP_001357334.1:p.Pro1338AlafsTer?
NM_021055.2:c.4012_4102del	NP_066399.2:p.Pro1338AlafsTer?
NM_021055.3:c.4012_4102del	NP_066399.2:p.Pro1338AlafsTer?
ENST00000219476.7:c.4141_4231del	ENSP00000219476.3:p.Pro1381AlafsTer?
ENST00000350773.8:c.4072_4162del	ENSP00000344383.4:p.Pro1358AlafsTer?
ENST00000350773.9:c.4072_4162del	ENSP00000344383.4:p.Pro1358AlafsTer?
ENST00000382538.10:c.3796_3886del	ENSP00000371978.6:p.Pro1266AlafsTer?
ENST00000401874.6:c.3940_4030del	ENSP00000384468.2:p.Pro1314AlafsTer?
ENST00000401874.7:c.3940_4030del	ENSP00000384468.2:p.Pro1314AlafsTer?
ENST00000439117.6:c.*3308_*3398del	ENSP00000406980.2:n.*3308_*3398del
ENST00000439673.6:c.3832_3922del	ENSP00000399232.2:p.Pro1278AlafsTer?
ENST00000497886.5:n.1899_1989del
ENST00000568454.5:c.3973_4063del	ENSP00000454487.1:p.Pro1325AlafsTer?
ENST00000568454.6:c.3973_4063del	ENSP00000454487.1:p.Pro1325AlafsTer?
ENST00000568566.6:c.*2490_*2580del	ENSP00000455997.2:n.*2490_*2580del
ENST00000569110.1:c.323_413del
ENST00000569110.2:c.377_467del
ENST00000569930.1:n.1256_1346del
ENST00000569930.2:n.2023_2113del
ENST00000642206.2:c.3988_4078del	ENSP00000495146.2:p.Pro1330AlafsTer?
ENST00000642365.1:c.2795_2885del
ENST00000642365.2:c.4138_4228del	ENSP00000495459.2:p.Pro1380AlafsTer?
ENST00000642561.1:c.4012_4102del	ENSP00000495099.1:p.Pro1338AlafsTer?
ENST00000642728.1:n.323_413del
ENST00000642797.1:c.3943_4033del	ENSP00000493846.1:p.Pro1315AlafsTer?
ENST00000642936.1:c.4009_4099del	ENSP00000494514.1:p.Pro1337AlafsTer?
ENST00000643088.1:c.3940_4030del	ENSP00000494747.1:p.Pro1314AlafsTer?
ENST00000643177.1:n.155_245del
ENST00000643426.1:n.1789_1879del
ENST00000643946.1:c.4072_4162del	ENSP00000495927.1:p.Pro1358AlafsTer?
ENST00000644043.1:c.4012_4102del	ENSP00000496262.1:p.Pro1338AlafsTer?
ENST00000644329.1:c.3940_4030del	ENSP00000496611.1:p.Pro1314AlafsTer?
ENST00000644335.1:c.3943_4033del	ENSP00000496317.1:p.Pro1315AlafsTer?
ENST00000644399.1:c.4062_4152del
ENST00000644417.2:c.*4521_*4611del	ENSP00000493912.2:n.*4521_*4611del
ENST00000645024.1:n.2225_2315del
ENST00000645186.1:c.384_474del
ENST00000646388.1:c.4141_4231del	ENSP00000495921.1:p.Pro1381AlafsTer?
ENST00000646464.2:c.*6890_*6980del	ENSP00000496610.2:n.*6890_*6980del
ENST00000646634.1:n.2956_3046del
ENST00000646674.1:n.1393_1483del
ENST00000647042.1:n.1364_1454del
ENST00000647180.1:n.1254_1344del
XM_005255529.3:c.4012_4102del	XP_005255586.2:p.Pro1338AlafsTer?
XM_005255531.3:c.3943_4033del	XP_005255588.2:p.Pro1315AlafsTer?
XM_005255531.4:c.3943_4033del	XP_005255588.2:p.Pro1315AlafsTer?
XM_011522636.1:c.4195_4285del	XP_011520938.1:p.Pro1399AlafsTer?
XM_011522636.2:c.4195_4285del	XP_011520938.1:p.Pro1399AlafsTer?
XM_011522637.1:c.4192_4282del	XP_011520939.1:p.Pro1398AlafsTer?
XM_011522637.2:c.4192_4282del	XP_011520939.1:p.Pro1398AlafsTer?
XM_011522638.1:c.4084_4174del	XP_011520940.1:p.Pro1362AlafsTer?
XM_011522638.2:c.4357_4447del	XP_011520940.2:p.Pro1453AlafsTer?
XM_011522639.1:c.4066_4156del	XP_011520941.1:p.Pro1356AlafsTer?
XM_011522639.2:c.4066_4156del	XP_011520941.1:p.Pro1356AlafsTer?
XM_011522640.1:c.4063_4153del	XP_011520942.1:p.Pro1355AlafsTer?
XM_011522640.2:c.4063_4153del	XP_011520942.1:p.Pro1355AlafsTer?
XM_011522641.1:c.3832_3922del	XP_011520943.1:p.Pro1278AlafsTer?
XM_017023615.1:c.4138_4228del	XP_016879104.1:p.Pro1380AlafsTer?
XM_017023616.1:c.4009_4099del	XP_016879105.1:p.Pro1337AlafsTer?
XM_017023617.1:c.4105_4195del	XP_016879106.1:p.Pro1369AlafsTer?
XM_017023618.1:c.2851_2941del	XP_016879107.1:p.Pro951AlafsTer?
XM_024450413.1:c.3940_4030del	XP_024306181.1:p.Pro1314AlafsTer?