Canonical Allele Identifier: CA2202045129

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084641_2084646delinsGAGAGT , CM000678.2:g.2084641_2084646delinsGAGAGT	GRCh38
NC_000016.9:g.2134642_2134647delinsGAGAGT , CM000678.1:g.2134642_2134647delinsGAGAGT	GRCh37
NC_000016.8:g.2074643_2074648delinsGAGAGT	NCBI36
NG_005895.1:g.40336_40341delinsGAGAGT , LRG_487:g.40336_40341delinsGAGAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2768_*2773delinsGAGAGT	ENSP00000455997.2:n.*2768_*2773delinsGAGA...
ENST00000642206.2:c.4266_4271delinsGAGAGT	ENSP00000495146.2:p.Lys1422=
ENST00000642365.2:c.4416_4421delinsGAGAGT	ENSP00000495459.2:p.Lys1472=
ENST00000644417.2:c.*4799_*4804delinsGAGAGT	ENSP00000493912.2:n.*4799_*4804delinsGAGA...
ENST00000646464.2:c.*7168_*7173delinsGAGAGT	ENSP00000496610.2:n.*7168_*7173delinsGAGA...
ENST00000219476.9:c.4419_4424delinsGAGAGT MANE Select	ENSP00000219476.3:p.Lys1473=
ENST00000350773.9:c.4350_4355delinsGAGAGT	ENSP00000344383.4:p.Lys1450=
ENST00000401874.7:c.4218_4223delinsGAGAGT	ENSP00000384468.2:p.Lys1406=
ENST00000568454.6:c.4251_4256delinsGAGAGT	ENSP00000454487.1:p.Lys1417=
ENST00000569110.2:c.655_660delinsGAGAGT
ENST00000569930.2:n.2301_2306delinsGAGAGT
ENST00000642365.1:c.3073_3078delinsGAGAGT
ENST00000642561.1:c.4290_4295delinsGAGAGT	ENSP00000495099.1:p.Lys1430=
ENST00000642728.1:n.601_606delinsGAGAGT
ENST00000642797.1:c.4221_4226delinsGAGAGT	ENSP00000493846.1:p.Lys1407=
ENST00000642936.1:c.4287_4292delinsGAGAGT	ENSP00000494514.1:p.Lys1429=
ENST00000643088.1:c.4218_4223delinsGAGAGT	ENSP00000494747.1:p.Lys1406=
ENST00000643177.1:n.433_438delinsGAGAGT
ENST00000643426.1:n.2067_2072delinsGAGAGT
ENST00000643946.1:c.4350_4355delinsGAGAGT	ENSP00000495927.1:p.Lys1450=
ENST00000644043.1:c.4290_4295delinsGAGAGT	ENSP00000496262.1:p.Lys1430=
ENST00000644329.1:c.4218_4223delinsGAGAGT	ENSP00000496611.1:p.Lys1406=
ENST00000644335.1:c.4221_4226delinsGAGAGT	ENSP00000496317.1:p.Lys1407=
ENST00000644399.1:c.4340_4345delinsGAGAGT
ENST00000645024.1:n.2503_2508delinsGAGAGT
ENST00000646388.1:c.4419_4424delinsGAGAGT	ENSP00000495921.1:p.Lys1473=
ENST00000646634.1:n.3234_3239delinsGAGAGT
ENST00000646674.1:n.1671_1676delinsGAGAGT
ENST00000647042.1:n.1642_1647delinsGAGAGT
ENST00000647180.1:n.1532_1537delinsGAGAGT
ENST00000219476.7:c.4419_4424delinsGAGAGT	ENSP00000219476.3:p.Lys1473=
ENST00000350773.8:c.4350_4355delinsGAGAGT	ENSP00000344383.4:p.Lys1450=
ENST00000382538.10:c.4074_4079delinsGAGAGT	ENSP00000371978.6:p.Lys1358=
ENST00000401874.6:c.4218_4223delinsGAGAGT	ENSP00000384468.2:p.Lys1406=
ENST00000439117.6:c.*3586_*3591delinsGAGAGT	ENSP00000406980.2:n.*3586_*3591delinsGAGA...
ENST00000439673.6:c.4110_4115delinsGAGAGT	ENSP00000399232.2:p.Lys1370=
ENST00000497886.5:n.2177_2182delinsGAGAGT
ENST00000568454.5:c.4251_4256delinsGAGAGT	ENSP00000454487.1:p.Lys1417=
ENST00000569110.1:c.601_606delinsGAGAGT
ENST00000569930.1:n.1534_1539delinsGAGAGT
NM_000548.3:c.4419_4424delinsGAGAGT , LRG_487t1:c.4419_4424delinsGAGAGT	NP_000539.2:p.Lys1473=
NM_001077183.1:c.4218_4223delinsGAGAGT	NP_001070651.1:p.Lys1406=
NM_001114382.1:c.4350_4355delinsGAGAGT	NP_001107854.1:p.Lys1450=
XM_005255529.3:c.4290_4295delinsGAGAGT	XP_005255586.2:p.Lys1430=
XM_005255531.3:c.4221_4226delinsGAGAGT	XP_005255588.2:p.Lys1407=
XM_011522636.1:c.4473_4478delinsGAGAGT	XP_011520938.1:p.Lys1491=
XM_011522637.1:c.4470_4475delinsGAGAGT	XP_011520939.1:p.Lys1490=
XM_011522638.1:c.4362_4367delinsGAGAGT	XP_011520940.1:p.Lys1454=
XM_011522639.1:c.4344_4349delinsGAGAGT	XP_011520941.1:p.Lys1448=
XM_011522640.1:c.4341_4346delinsGAGAGT	XP_011520942.1:p.Lys1447=
XM_011522641.1:c.4110_4115delinsGAGAGT	XP_011520943.1:p.Lys1370=
NM_000548.4:c.4419_4424delinsGAGAGT	NP_000539.2:p.Lys1473=
NM_001077183.2:c.4218_4223delinsGAGAGT	NP_001070651.1:p.Lys1406=
NM_001114382.2:c.4350_4355delinsGAGAGT	NP_001107854.1:p.Lys1450=
NM_001318827.1:c.4110_4115delinsGAGAGT	NP_001305756.1:p.Lys1370=
NM_001318829.1:c.4074_4079delinsGAGAGT	NP_001305758.1:p.Lys1358=
NM_001318831.1:c.3687_3692delinsGAGAGT	NP_001305760.1:p.Lys1229=
NM_001318832.1:c.4251_4256delinsGAGAGT	NP_001305761.1:p.Lys1417=
NM_001363528.1:c.4221_4226delinsGAGAGT	NP_001350457.1:p.Lys1407=
NM_021055.2:c.4290_4295delinsGAGAGT	NP_066399.2:p.Lys1430=
XM_005255531.4:c.4221_4226delinsGAGAGT	XP_005255588.2:p.Lys1407=
XM_011522636.2:c.4473_4478delinsGAGAGT	XP_011520938.1:p.Lys1491=
XM_011522637.2:c.4470_4475delinsGAGAGT	XP_011520939.1:p.Lys1490=
XM_011522638.2:c.4635_4640delinsGAGAGT	XP_011520940.2:p.Lys1545=
XM_011522639.2:c.4344_4349delinsGAGAGT	XP_011520941.1:p.Lys1448=
XM_011522640.2:c.4341_4346delinsGAGAGT	XP_011520942.1:p.Lys1447=
XM_017023615.1:c.4416_4421delinsGAGAGT	XP_016879104.1:p.Lys1472=
XM_017023616.1:c.4287_4292delinsGAGAGT	XP_016879105.1:p.Lys1429=
XM_017023617.1:c.4383_4388delinsGAGAGT	XP_016879106.1:p.Lys1461=
XM_017023618.1:c.3129_3134delinsGAGAGT	XP_016879107.1:p.Lys1043=
XM_024450413.1:c.4218_4223delinsGAGAGT	XP_024306181.1:p.Lys1406=
NM_000548.5:c.4419_4424delinsGAGAGT MANE Select	NP_000539.2:p.Lys1473=
NM_001370404.1:c.4287_4292delinsGAGAGT	NP_001357333.1:p.Lys1429=
NM_001370405.1:c.4290_4295delinsGAGAGT	NP_001357334.1:p.Lys1430=
NM_001077183.3:c.4218_4223delinsGAGAGT	NP_001070651.1:p.Lys1406=
NM_001114382.3:c.4350_4355delinsGAGAGT	NP_001107854.1:p.Lys1450=
NM_001318827.2:c.4110_4115delinsGAGAGT	NP_001305756.1:p.Lys1370=
NM_001318829.2:c.4074_4079delinsGAGAGT	NP_001305758.1:p.Lys1358=
NM_001318831.2:c.3687_3692delinsGAGAGT	NP_001305760.1:p.Lys1229=
NM_001318832.2:c.4251_4256delinsGAGAGT	NP_001305761.1:p.Lys1417=
NM_001363528.2:c.4221_4226delinsGAGAGT	NP_001350457.1:p.Lys1407=
NM_021055.3:c.4290_4295delinsGAGAGT	NP_066399.2:p.Lys1430=