Canonical Allele Identifier: CA2695221411

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085301_2085304del , CM000678.2:g.2085301_2085304del	GRCh38
NC_000016.9:g.2135302_2135305del , CM000678.1:g.2135302_2135305del	GRCh37
NC_000016.8:g.2075303_2075306del	NCBI36
NG_005895.1:g.40996_40999del , LRG_487:g.40996_40999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2990_*2993del	ENSP00000455997.2:n.*2990_*2993del
ENST00000642206.2:c.4488_4491del	ENSP00000495146.2:p.Leu1497MetfsTer27
ENST00000642365.2:c.4638_4641del	ENSP00000495459.2:p.Leu1547MetfsTer27
ENST00000644417.2:c.*5021_*5024del	ENSP00000493912.2:n.*5021_*5024del
ENST00000646464.2:c.*7390_*7393del	ENSP00000496610.2:n.*7390_*7393del
ENST00000219476.9:c.4641_4644del MANE Select	ENSP00000219476.3:p.Leu1548MetfsTer27
ENST00000350773.9:c.4572_4575del	ENSP00000344383.4:p.Leu1525MetfsTer27
ENST00000401874.7:c.4440_4443del	ENSP00000384468.2:p.Leu1481MetfsTer27
ENST00000568454.6:c.4473_4476del	ENSP00000454487.1:p.Leu1492MetfsTer27
ENST00000569110.2:c.864_867del
ENST00000569930.2:n.2523_2526del
ENST00000642365.1:c.3295_3298del
ENST00000642561.1:c.4512_4515del	ENSP00000495099.1:p.Leu1505MetfsTer27
ENST00000642728.1:n.823_826del
ENST00000642791.1:n.238_241del
ENST00000642797.1:c.4443_4446del	ENSP00000493846.1:p.Leu1482MetfsTer27
ENST00000642936.1:c.4509_4512del	ENSP00000494514.1:p.Leu1504MetfsTer27
ENST00000643088.1:c.4434_4437del	ENSP00000494747.1:p.Leu1479MetfsTer27
ENST00000643177.1:n.655_658del
ENST00000643426.1:n.2289_2292del
ENST00000643946.1:c.4566_4569del	ENSP00000495927.1:p.Leu1523MetfsTer27
ENST00000644043.1:c.4512_4515del	ENSP00000496262.1:p.Leu1505MetfsTer27
ENST00000644278.1:n.123_126del
ENST00000644329.1:c.4440_4443del	ENSP00000496611.1:p.Leu1481MetfsTer27
ENST00000644335.1:c.4437_4440del	ENSP00000496317.1:p.Leu1480MetfsTer27
ENST00000644399.1:c.4562_4565del
ENST00000645024.1:n.2725_2728del
ENST00000646388.1:c.4635_4638del	ENSP00000495921.1:p.Leu1546MetfsTer27
ENST00000646634.1:n.3456_3459del
ENST00000646674.1:n.1893_1896del
ENST00000647042.1:n.1864_1867del
ENST00000647180.1:n.1754_1757del
ENST00000219476.7:c.4641_4644del	ENSP00000219476.3:p.Leu1548MetfsTer27
ENST00000350773.8:c.4572_4575del	ENSP00000344383.4:p.Leu1525MetfsTer27
ENST00000382538.10:c.4296_4299del	ENSP00000371978.6:p.Leu1433MetfsTer27
ENST00000401874.6:c.4440_4443del	ENSP00000384468.2:p.Leu1481MetfsTer27
ENST00000439117.6:c.*3808_*3811del	ENSP00000406980.2:n.*3808_*3811del
ENST00000439673.6:c.4332_4335del	ENSP00000399232.2:p.Leu1445MetfsTer27
ENST00000497886.5:n.2399_2402del
ENST00000568454.5:c.4473_4476del	ENSP00000454487.1:p.Leu1492MetfsTer27
ENST00000569110.1:c.823_826del
ENST00000569930.1:n.1756_1759del
NM_000548.3:c.4641_4644del , LRG_487t1:c.4641_4644del	NP_000539.2:p.Leu1548MetfsTer27
NM_001077183.1:c.4440_4443del	NP_001070651.1:p.Leu1481MetfsTer27
NM_001114382.1:c.4572_4575del	NP_001107854.1:p.Leu1525MetfsTer27
XM_005255529.3:c.4512_4515del	XP_005255586.2:p.Leu1505MetfsTer27
XM_005255531.3:c.4443_4446del	XP_005255588.2:p.Leu1482MetfsTer27
XM_011522636.1:c.4695_4698del	XP_011520938.1:p.Leu1566MetfsTer27
XM_011522637.1:c.4692_4695del	XP_011520939.1:p.Leu1565MetfsTer27
XM_011522638.1:c.4584_4587del	XP_011520940.1:p.Leu1529MetfsTer27
XM_011522639.1:c.4566_4569del	XP_011520941.1:p.Leu1523MetfsTer27
XM_011522640.1:c.4563_4566del	XP_011520942.1:p.Leu1522MetfsTer27
XM_011522641.1:c.4332_4335del	XP_011520943.1:p.Leu1445MetfsTer27
NM_000548.4:c.4641_4644del	NP_000539.2:p.Leu1548MetfsTer27
NM_001077183.2:c.4440_4443del	NP_001070651.1:p.Leu1481MetfsTer27
NM_001114382.2:c.4572_4575del	NP_001107854.1:p.Leu1525MetfsTer27
NM_001318827.1:c.4332_4335del	NP_001305756.1:p.Leu1445MetfsTer27
NM_001318829.1:c.4296_4299del	NP_001305758.1:p.Leu1433MetfsTer27
NM_001318831.1:c.3909_3912del	NP_001305760.1:p.Leu1304MetfsTer27
NM_001318832.1:c.4473_4476del	NP_001305761.1:p.Leu1492MetfsTer27
NM_001363528.1:c.4443_4446del	NP_001350457.1:p.Leu1482MetfsTer27
NM_021055.2:c.4512_4515del	NP_066399.2:p.Leu1505MetfsTer27
XM_005255531.4:c.4443_4446del	XP_005255588.2:p.Leu1482MetfsTer27
XM_011522636.2:c.4695_4698del	XP_011520938.1:p.Leu1566MetfsTer27
XM_011522637.2:c.4692_4695del	XP_011520939.1:p.Leu1565MetfsTer27
XM_011522638.2:c.4857_4860del	XP_011520940.2:p.Leu1620MetfsTer27
XM_011522639.2:c.4566_4569del	XP_011520941.1:p.Leu1523MetfsTer27
XM_011522640.2:c.4563_4566del	XP_011520942.1:p.Leu1522MetfsTer27
XM_017023615.1:c.4638_4641del	XP_016879104.1:p.Leu1547MetfsTer27
XM_017023616.1:c.4509_4512del	XP_016879105.1:p.Leu1504MetfsTer27
XM_017023617.1:c.4605_4608del	XP_016879106.1:p.Leu1536MetfsTer27
XM_017023618.1:c.3351_3354del	XP_016879107.1:p.Leu1118MetfsTer27
XM_024450413.1:c.4440_4443del	XP_024306181.1:p.Leu1481MetfsTer27
NM_000548.5:c.4641_4644del MANE Select	NP_000539.2:p.Leu1548MetfsTer27
NM_001370404.1:c.4509_4512del	NP_001357333.1:p.Leu1504MetfsTer27
NM_001370405.1:c.4512_4515del	NP_001357334.1:p.Leu1505MetfsTer27
NM_001077183.3:c.4440_4443del	NP_001070651.1:p.Leu1481MetfsTer27
NM_001114382.3:c.4572_4575del	NP_001107854.1:p.Leu1525MetfsTer27
NM_001318827.2:c.4332_4335del	NP_001305756.1:p.Leu1445MetfsTer27
NM_001318829.2:c.4296_4299del	NP_001305758.1:p.Leu1433MetfsTer27
NM_001318831.2:c.3909_3912del	NP_001305760.1:p.Leu1304MetfsTer27
NM_001318832.2:c.4473_4476del	NP_001305761.1:p.Leu1492MetfsTer27
NM_001363528.2:c.4443_4446del	NP_001350457.1:p.Leu1482MetfsTer27
NM_021055.3:c.4512_4515del	NP_066399.2:p.Leu1505MetfsTer27