Canonical Allele Identifier: CA2202024594

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086734_2086737delinsGTCT , CM000678.2:g.2086734_2086737delinsGTCT	GRCh38
NC_000016.9:g.2136735_2136738delinsGTCT , CM000678.1:g.2136735_2136738delinsGTCT	GRCh37
NC_000016.8:g.2076736_2076739delinsGTCT	NCBI36
NG_005895.1:g.42429_42432delinsGTCT , LRG_487:g.42429_42432delinsGTCT
NG_008617.1:g.56484_56487delinsAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3201_*3204delinsGTCT	ENSP00000455997.2:n.*3201_*3204delinsGTCT
ENST00000642206.2:c.4699_4702delinsGTCT	ENSP00000495146.2:p.Val1567=
ENST00000642365.2:c.4849_4852delinsGTCT	ENSP00000495459.2:p.Val1617=
ENST00000644417.2:c.*5365_*5368delinsGTCT	ENSP00000493912.2:n.*5365_*5368delinsGTCT
ENST00000646464.2:c.*7601_*7604delinsGTCT	ENSP00000496610.2:n.*7601_*7604delinsGTCT
ENST00000219476.9:c.4852_4855delinsGTCT MANE Select	ENSP00000219476.3:p.Val1618=
ENST00000350773.9:c.4783_4786delinsGTCT	ENSP00000344383.4:p.Val1595=
ENST00000401874.7:c.4651_4654delinsGTCT	ENSP00000384468.2:p.Val1551=
ENST00000568454.6:c.4684_4687delinsGTCT	ENSP00000454487.1:p.Val1562=
ENST00000569110.2:c.1075_1078delinsGTCT
ENST00000569930.2:n.2734_2737delinsGTCT
ENST00000642365.1:c.3506_3509delinsGTCT
ENST00000642561.1:c.4723_4726delinsGTCT	ENSP00000495099.1:p.Val1575=
ENST00000642728.1:n.1034_1037delinsGTCT
ENST00000642791.1:n.449_452delinsGTCT
ENST00000642797.1:c.4654_4657delinsGTCT	ENSP00000493846.1:p.Val1552=
ENST00000642936.1:c.4720_4723delinsGTCT	ENSP00000494514.1:p.Val1574=
ENST00000643088.1:c.4645_4648delinsGTCT	ENSP00000494747.1:p.Val1549=
ENST00000643177.1:n.866_869delinsGTCT
ENST00000643426.1:n.2500_2503delinsGTCT
ENST00000643946.1:c.4777_4780delinsGTCT	ENSP00000495927.1:p.Val1593=
ENST00000644043.1:c.4723_4726delinsGTCT	ENSP00000496262.1:p.Val1575=
ENST00000644278.1:n.334_337delinsGTCT
ENST00000644329.1:c.4651_4654delinsGTCT	ENSP00000496611.1:p.Val1551=
ENST00000644335.1:c.4648_4651delinsGTCT	ENSP00000496317.1:p.Val1550=
ENST00000644399.1:c.4773_4776delinsGTCT
ENST00000645024.1:n.2936_2939delinsGTCT
ENST00000646388.1:c.4846_4849delinsGTCT	ENSP00000495921.1:p.Val1616=
ENST00000646557.1:n.13_16delinsGTCT
ENST00000646634.1:n.3667_3670delinsGTCT
ENST00000646674.1:n.2104_2107delinsGTCT
ENST00000647042.1:n.2075_2078delinsGTCT
ENST00000647180.1:n.1965_1968delinsGTCT
ENST00000219476.7:c.4852_4855delinsGTCT	ENSP00000219476.3:p.Val1618=
ENST00000350773.8:c.4783_4786delinsGTCT	ENSP00000344383.4:p.Val1595=
ENST00000382538.10:c.4507_4510delinsGTCT	ENSP00000371978.6:p.Val1503=
ENST00000401874.6:c.4651_4654delinsGTCT	ENSP00000384468.2:p.Val1551=
ENST00000439117.6:c.*4019_*4022delinsGTCT	ENSP00000406980.2:n.*4019_*4022delinsGTCT
ENST00000439673.6:c.4543_4546delinsGTCT	ENSP00000399232.2:p.Val1515=
ENST00000497886.5:n.2608-33_2608-30delinsGTCT
ENST00000568454.5:c.4684_4687delinsGTCT	ENSP00000454487.1:p.Val1562=
ENST00000569110.1:c.1034_1037delinsGTCT
ENST00000569930.1:n.1967_1970delinsGTCT
NM_000548.3:c.4852_4855delinsGTCT , LRG_487t1:c.4852_4855delinsGTCT	NP_000539.2:p.Val1618=
NM_001077183.1:c.4651_4654delinsGTCT	NP_001070651.1:p.Val1551=
NM_001114382.1:c.4783_4786delinsGTCT	NP_001107854.1:p.Val1595=
XM_005255529.3:c.4723_4726delinsGTCT	XP_005255586.2:p.Val1575=
XM_005255531.3:c.4654_4657delinsGTCT	XP_005255588.2:p.Val1552=
XM_011522636.1:c.4906_4909delinsGTCT	XP_011520938.1:p.Val1636=
XM_011522637.1:c.4903_4906delinsGTCT	XP_011520939.1:p.Val1635=
XM_011522638.1:c.4795_4798delinsGTCT	XP_011520940.1:p.Val1599=
XM_011522639.1:c.4777_4780delinsGTCT	XP_011520941.1:p.Val1593=
XM_011522640.1:c.4774_4777delinsGTCT	XP_011520942.1:p.Val1592=
XM_011522641.1:c.4543_4546delinsGTCT	XP_011520943.1:p.Val1515=
NM_000548.4:c.4852_4855delinsGTCT	NP_000539.2:p.Val1618=
NM_001077183.2:c.4651_4654delinsGTCT	NP_001070651.1:p.Val1551=
NM_001114382.2:c.4783_4786delinsGTCT	NP_001107854.1:p.Val1595=
NM_001318827.1:c.4543_4546delinsGTCT	NP_001305756.1:p.Val1515=
NM_001318829.1:c.4507_4510delinsGTCT	NP_001305758.1:p.Val1503=
NM_001318831.1:c.4120_4123delinsGTCT	NP_001305760.1:p.Val1374=
NM_001318832.1:c.4684_4687delinsGTCT	NP_001305761.1:p.Val1562=
NM_001363528.1:c.4654_4657delinsGTCT	NP_001350457.1:p.Val1552=
NM_021055.2:c.4723_4726delinsGTCT	NP_066399.2:p.Val1575=
XM_005255531.4:c.4654_4657delinsGTCT	XP_005255588.2:p.Val1552=
XM_011522636.2:c.4906_4909delinsGTCT	XP_011520938.1:p.Val1636=
XM_011522637.2:c.4903_4906delinsGTCT	XP_011520939.1:p.Val1635=
XM_011522638.2:c.5068_5071delinsGTCT	XP_011520940.2:p.Val1690=
XM_011522639.2:c.4777_4780delinsGTCT	XP_011520941.1:p.Val1593=
XM_011522640.2:c.4774_4777delinsGTCT	XP_011520942.1:p.Val1592=
XM_017023615.1:c.4849_4852delinsGTCT	XP_016879104.1:p.Val1617=
XM_017023616.1:c.4720_4723delinsGTCT	XP_016879105.1:p.Val1574=
XM_017023617.1:c.4816_4819delinsGTCT	XP_016879106.1:p.Val1606=
XM_017023618.1:c.3562_3565delinsGTCT	XP_016879107.1:p.Val1188=
XM_024450413.1:c.4651_4654delinsGTCT	XP_024306181.1:p.Val1551=
NM_000548.5:c.4852_4855delinsGTCT MANE Select	NP_000539.2:p.Val1618=
NM_001370404.1:c.4720_4723delinsGTCT	NP_001357333.1:p.Val1574=
NM_001370405.1:c.4723_4726delinsGTCT	NP_001357334.1:p.Val1575=
NM_001077183.3:c.4651_4654delinsGTCT	NP_001070651.1:p.Val1551=
NM_001114382.3:c.4783_4786delinsGTCT	NP_001107854.1:p.Val1595=
NM_001318827.2:c.4543_4546delinsGTCT	NP_001305756.1:p.Val1515=
NM_001318829.2:c.4507_4510delinsGTCT	NP_001305758.1:p.Val1503=
NM_001318831.2:c.4120_4123delinsGTCT	NP_001305760.1:p.Val1374=
NM_001318832.2:c.4684_4687delinsGTCT	NP_001305761.1:p.Val1562=
NM_001363528.2:c.4654_4657delinsGTCT	NP_001350457.1:p.Val1552=
NM_021055.3:c.4723_4726delinsGTCT	NP_066399.2:p.Val1575=