Canonical Allele Identifier: CA3265648715

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084435_2084542del , CM000678.2:g.2084435_2084542del	GRCh38
NC_000016.9:g.2134436_2134543del , CM000678.1:g.2134436_2134543del	GRCh37
NC_000016.8:g.2074437_2074544del	NCBI36
NG_005895.1:g.40130_40237del , LRG_487:g.40130_40237del

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4213_4320del MANE Select	NP_000539.2:p.Ala1405_Gln1440del
ENST00000219476.9:c.4213_4320del MANE Select	ENSP00000219476.3:p.Ala1405_Gln1440del
NM_000548.3:c.4213_4320del , LRG_487t1:c.4213_4320del	NP_000539.2:p.Ala1405_Gln1440del
NM_000548.4:c.4213_4320del	NP_000539.2:p.Ala1405_Gln1440del
NM_001077183.1:c.4012_4119del	NP_001070651.1:p.Ala1338_Gln1373del
NM_001077183.2:c.4012_4119del	NP_001070651.1:p.Ala1338_Gln1373del
NM_001077183.3:c.4012_4119del	NP_001070651.1:p.Ala1338_Gln1373del
NM_001114382.1:c.4144_4251del	NP_001107854.1:p.Ala1382_Gln1417del
NM_001114382.2:c.4144_4251del	NP_001107854.1:p.Ala1382_Gln1417del
NM_001114382.3:c.4144_4251del	NP_001107854.1:p.Ala1382_Gln1417del
NM_001318827.1:c.3904_4011del	NP_001305756.1:p.Ala1302_Gln1337del
NM_001318827.2:c.3904_4011del	NP_001305756.1:p.Ala1302_Gln1337del
NM_001318829.1:c.3868_3975del	NP_001305758.1:p.Ala1290_Gln1325del
NM_001318829.2:c.3868_3975del	NP_001305758.1:p.Ala1290_Gln1325del
NM_001318831.1:c.3481_3588del	NP_001305760.1:p.Ala1161_Gln1196del
NM_001318831.2:c.3481_3588del	NP_001305760.1:p.Ala1161_Gln1196del
NM_001318832.1:c.4045_4152del	NP_001305761.1:p.Ala1349_Gln1384del
NM_001318832.2:c.4045_4152del	NP_001305761.1:p.Ala1349_Gln1384del
NM_001363528.1:c.4015_4122del	NP_001350457.1:p.Ala1339_Gln1374del
NM_001363528.2:c.4015_4122del	NP_001350457.1:p.Ala1339_Gln1374del
NM_001370404.1:c.4081_4188del	NP_001357333.1:p.Ala1361_Gln1396del
NM_001370405.1:c.4084_4191del	NP_001357334.1:p.Ala1362_Gln1397del
NM_021055.2:c.4084_4191del	NP_066399.2:p.Ala1362_Gln1397del
NM_021055.3:c.4084_4191del	NP_066399.2:p.Ala1362_Gln1397del
ENST00000219476.7:c.4213_4320del	ENSP00000219476.3:p.Ala1405_Gln1440del
ENST00000350773.8:c.4144_4251del	ENSP00000344383.4:p.Ala1382_Gln1417del
ENST00000350773.9:c.4144_4251del	ENSP00000344383.4:p.Ala1382_Gln1417del
ENST00000382538.10:c.3868_3975del	ENSP00000371978.6:p.Ala1290_Gln1325del
ENST00000401874.6:c.4012_4119del	ENSP00000384468.2:p.Ala1338_Gln1373del
ENST00000401874.7:c.4012_4119del	ENSP00000384468.2:p.Ala1338_Gln1373del
ENST00000439117.6:c.*3380_*3487del	ENSP00000406980.2:n.*3380_*3487del
ENST00000439673.6:c.3904_4011del	ENSP00000399232.2:p.Ala1302_Gln1337del
ENST00000497886.5:n.1971_2078del
ENST00000568454.5:c.4045_4152del	ENSP00000454487.1:p.Ala1349_Gln1384del
ENST00000568454.6:c.4045_4152del	ENSP00000454487.1:p.Ala1349_Gln1384del
ENST00000568566.6:c.*2562_*2669del	ENSP00000455997.2:n.*2562_*2669del
ENST00000569110.1:c.395_502del
ENST00000569110.2:c.449_556del
ENST00000569930.1:n.1328_1435del
ENST00000569930.2:n.2095_2202del
ENST00000642206.2:c.4060_4167del	ENSP00000495146.2:p.Ala1354_Gln1389del
ENST00000642365.1:c.2867_2974del
ENST00000642365.2:c.4210_4317del	ENSP00000495459.2:p.Ala1404_Gln1439del
ENST00000642561.1:c.4084_4191del	ENSP00000495099.1:p.Ala1362_Gln1397del
ENST00000642728.1:n.395_502del
ENST00000642797.1:c.4015_4122del	ENSP00000493846.1:p.Ala1339_Gln1374del
ENST00000642936.1:c.4081_4188del	ENSP00000494514.1:p.Ala1361_Gln1396del
ENST00000643088.1:c.4012_4119del	ENSP00000494747.1:p.Ala1338_Gln1373del
ENST00000643177.1:n.227_334del
ENST00000643426.1:n.1861_1968del
ENST00000643946.1:c.4144_4251del	ENSP00000495927.1:p.Ala1382_Gln1417del
ENST00000644043.1:c.4084_4191del	ENSP00000496262.1:p.Ala1362_Gln1397del
ENST00000644329.1:c.4012_4119del	ENSP00000496611.1:p.Ala1338_Gln1373del
ENST00000644335.1:c.4015_4122del	ENSP00000496317.1:p.Ala1339_Gln1374del
ENST00000644399.1:c.4134_4241del
ENST00000644417.2:c.*4593_*4700del	ENSP00000493912.2:n.*4593_*4700del
ENST00000645024.1:n.2297_2404del
ENST00000646388.1:c.4213_4320del	ENSP00000495921.1:p.Ala1405_Gln1440del
ENST00000646464.2:c.*6962_*7069del	ENSP00000496610.2:n.*6962_*7069del
ENST00000646634.1:n.3028_3135del
ENST00000646674.1:n.1465_1572del
ENST00000647042.1:n.1436_1543del
ENST00000647180.1:n.1326_1433del
XM_005255529.3:c.4084_4191del	XP_005255586.2:p.Ala1362_Gln1397del
XM_005255531.3:c.4015_4122del	XP_005255588.2:p.Ala1339_Gln1374del
XM_005255531.4:c.4015_4122del	XP_005255588.2:p.Ala1339_Gln1374del
XM_011522636.1:c.4267_4374del	XP_011520938.1:p.Ala1423_Gln1458del
XM_011522636.2:c.4267_4374del	XP_011520938.1:p.Ala1423_Gln1458del
XM_011522637.1:c.4264_4371del	XP_011520939.1:p.Ala1422_Gln1457del
XM_011522637.2:c.4264_4371del	XP_011520939.1:p.Ala1422_Gln1457del
XM_011522638.1:c.4156_4263del	XP_011520940.1:p.Ala1386_Gln1421del
XM_011522638.2:c.4429_4536del	XP_011520940.2:p.Ala1477_Gln1512del
XM_011522639.1:c.4138_4245del	XP_011520941.1:p.Ala1380_Gln1415del
XM_011522639.2:c.4138_4245del	XP_011520941.1:p.Ala1380_Gln1415del
XM_011522640.1:c.4135_4242del	XP_011520942.1:p.Ala1379_Gln1414del
XM_011522640.2:c.4135_4242del	XP_011520942.1:p.Ala1379_Gln1414del
XM_011522641.1:c.3904_4011del	XP_011520943.1:p.Ala1302_Gln1337del
XM_017023615.1:c.4210_4317del	XP_016879104.1:p.Ala1404_Gln1439del
XM_017023616.1:c.4081_4188del	XP_016879105.1:p.Ala1361_Gln1396del
XM_017023617.1:c.4177_4284del	XP_016879106.1:p.Ala1393_Gln1428del
XM_017023618.1:c.2923_3030del	XP_016879107.1:p.Ala975_Gln1010del
XM_024450413.1:c.4012_4119del	XP_024306181.1:p.Ala1338_Gln1373del