Canonical Allele Identifier: CA2695221405

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084992_2084996del , CM000678.2:g.2084992_2084996del	GRCh38
NC_000016.9:g.2134993_2134997del , CM000678.1:g.2134993_2134997del	GRCh37
NC_000016.8:g.2074994_2074998del	NCBI36
NG_005895.1:g.40687_40691del , LRG_487:g.40687_40691del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2884_*2888del	ENSP00000455997.2:n.*2884_*2888del
ENST00000642206.2:c.4382_4386del	ENSP00000495146.2:p.Asp1461ValfsTer10
ENST00000642365.2:c.4532_4536del	ENSP00000495459.2:p.Asp1511ValfsTer10
ENST00000644417.2:c.*4915_*4919del	ENSP00000493912.2:n.*4915_*4919del
ENST00000646464.2:c.*7284_*7288del	ENSP00000496610.2:n.*7284_*7288del
ENST00000219476.9:c.4535_4539del MANE Select	ENSP00000219476.3:p.Asp1512ValfsTer10
ENST00000350773.9:c.4466_4470del	ENSP00000344383.4:p.Asp1489ValfsTer10
ENST00000401874.7:c.4334_4338del	ENSP00000384468.2:p.Asp1445ValfsTer10
ENST00000568454.6:c.4367_4371del	ENSP00000454487.1:p.Asp1456ValfsTer10
ENST00000569110.2:c.758_762del
ENST00000569930.2:n.2417_2421del
ENST00000642365.1:c.3189_3193del
ENST00000642561.1:c.4406_4410del	ENSP00000495099.1:p.Asp1469ValfsTer10
ENST00000642728.1:n.717_721del
ENST00000642797.1:c.4337_4341del	ENSP00000493846.1:p.Asp1446ValfsTer10
ENST00000642936.1:c.4403_4407del	ENSP00000494514.1:p.Asp1468ValfsTer10
ENST00000643088.1:c.4334_4338del	ENSP00000494747.1:p.Asp1445ValfsTer10
ENST00000643177.1:n.549_553del
ENST00000643426.1:n.2183_2187del
ENST00000643946.1:c.4466_4470del	ENSP00000495927.1:p.Asp1489ValfsTer10
ENST00000644043.1:c.4406_4410del	ENSP00000496262.1:p.Asp1469ValfsTer10
ENST00000644329.1:c.4334_4338del	ENSP00000496611.1:p.Asp1445ValfsTer10
ENST00000644335.1:c.4337_4341del	ENSP00000496317.1:p.Asp1446ValfsTer10
ENST00000644399.1:c.4456_4460del
ENST00000645024.1:n.2619_2623del
ENST00000646388.1:c.4535_4539del	ENSP00000495921.1:p.Asp1512ValfsTer10
ENST00000646634.1:n.3350_3354del
ENST00000646674.1:n.1787_1791del
ENST00000647042.1:n.1758_1762del
ENST00000647180.1:n.1648_1652del
ENST00000219476.7:c.4535_4539del	ENSP00000219476.3:p.Asp1512ValfsTer10
ENST00000350773.8:c.4466_4470del	ENSP00000344383.4:p.Asp1489ValfsTer10
ENST00000382538.10:c.4190_4194del	ENSP00000371978.6:p.Asp1397ValfsTer10
ENST00000401874.6:c.4334_4338del	ENSP00000384468.2:p.Asp1445ValfsTer10
ENST00000439117.6:c.*3702_*3706del	ENSP00000406980.2:n.*3702_*3706del
ENST00000439673.6:c.4226_4230del	ENSP00000399232.2:p.Asp1409ValfsTer10
ENST00000497886.5:n.2293_2297del
ENST00000568454.5:c.4367_4371del	ENSP00000454487.1:p.Asp1456ValfsTer10
ENST00000569110.1:c.717_721del
ENST00000569930.1:n.1650_1654del
NM_000548.3:c.4535_4539del , LRG_487t1:c.4535_4539del	NP_000539.2:p.Asp1512ValfsTer10
NM_001077183.1:c.4334_4338del	NP_001070651.1:p.Asp1445ValfsTer10
NM_001114382.1:c.4466_4470del	NP_001107854.1:p.Asp1489ValfsTer10
XM_005255529.3:c.4406_4410del	XP_005255586.2:p.Asp1469ValfsTer10
XM_005255531.3:c.4337_4341del	XP_005255588.2:p.Asp1446ValfsTer10
XM_011522636.1:c.4589_4593del	XP_011520938.1:p.Asp1530ValfsTer10
XM_011522637.1:c.4586_4590del	XP_011520939.1:p.Asp1529ValfsTer10
XM_011522638.1:c.4478_4482del	XP_011520940.1:p.Asp1493ValfsTer10
XM_011522639.1:c.4460_4464del	XP_011520941.1:p.Asp1487ValfsTer10
XM_011522640.1:c.4457_4461del	XP_011520942.1:p.Asp1486ValfsTer10
XM_011522641.1:c.4226_4230del	XP_011520943.1:p.Asp1409ValfsTer10
NM_000548.4:c.4535_4539del	NP_000539.2:p.Asp1512ValfsTer10
NM_001077183.2:c.4334_4338del	NP_001070651.1:p.Asp1445ValfsTer10
NM_001114382.2:c.4466_4470del	NP_001107854.1:p.Asp1489ValfsTer10
NM_001318827.1:c.4226_4230del	NP_001305756.1:p.Asp1409ValfsTer10
NM_001318829.1:c.4190_4194del	NP_001305758.1:p.Asp1397ValfsTer10
NM_001318831.1:c.3803_3807del	NP_001305760.1:p.Asp1268ValfsTer10
NM_001318832.1:c.4367_4371del	NP_001305761.1:p.Asp1456ValfsTer10
NM_001363528.1:c.4337_4341del	NP_001350457.1:p.Asp1446ValfsTer10
NM_021055.2:c.4406_4410del	NP_066399.2:p.Asp1469ValfsTer10
XM_005255531.4:c.4337_4341del	XP_005255588.2:p.Asp1446ValfsTer10
XM_011522636.2:c.4589_4593del	XP_011520938.1:p.Asp1530ValfsTer10
XM_011522637.2:c.4586_4590del	XP_011520939.1:p.Asp1529ValfsTer10
XM_011522638.2:c.4751_4755del	XP_011520940.2:p.Asp1584ValfsTer10
XM_011522639.2:c.4460_4464del	XP_011520941.1:p.Asp1487ValfsTer10
XM_011522640.2:c.4457_4461del	XP_011520942.1:p.Asp1486ValfsTer10
XM_017023615.1:c.4532_4536del	XP_016879104.1:p.Asp1511ValfsTer10
XM_017023616.1:c.4403_4407del	XP_016879105.1:p.Asp1468ValfsTer10
XM_017023617.1:c.4499_4503del	XP_016879106.1:p.Asp1500ValfsTer10
XM_017023618.1:c.3245_3249del	XP_016879107.1:p.Asp1082ValfsTer10
XM_024450413.1:c.4334_4338del	XP_024306181.1:p.Asp1445ValfsTer10
NM_000548.5:c.4535_4539del MANE Select	NP_000539.2:p.Asp1512ValfsTer10
NM_001370404.1:c.4403_4407del	NP_001357333.1:p.Asp1468ValfsTer10
NM_001370405.1:c.4406_4410del	NP_001357334.1:p.Asp1469ValfsTer10
NM_001077183.3:c.4334_4338del	NP_001070651.1:p.Asp1445ValfsTer10
NM_001114382.3:c.4466_4470del	NP_001107854.1:p.Asp1489ValfsTer10
NM_001318827.2:c.4226_4230del	NP_001305756.1:p.Asp1409ValfsTer10
NM_001318829.2:c.4190_4194del	NP_001305758.1:p.Asp1397ValfsTer10
NM_001318831.2:c.3803_3807del	NP_001305760.1:p.Asp1268ValfsTer10
NM_001318832.2:c.4367_4371del	NP_001305761.1:p.Asp1456ValfsTer10
NM_001363528.2:c.4337_4341del	NP_001350457.1:p.Asp1446ValfsTer10
NM_021055.3:c.4406_4410del	NP_066399.2:p.Asp1469ValfsTer10