Canonical Allele Identifier: CA2202032563

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088299_2088303delinsCGCCA , CM000678.2:g.2088299_2088303delinsCGCCA	GRCh38
NC_000016.9:g.2138300_2138304delinsCGCCA , CM000678.1:g.2138300_2138304delinsCGCCA	GRCh37
NC_000016.8:g.2078301_2078305delinsCGCCA	NCBI36
NG_005895.1:g.43994_43998delinsCGCCA , LRG_487:g.43994_43998delinsCGCCA
NG_008617.1:g.54918_54922delinsTGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3582_*3586delinsCGCCA	ENSP00000455997.2:n.*3582_*3586delinsCGCCA
ENST00000642206.2:c.5080_5084delinsCGCCA	ENSP00000495146.2:p.Arg1694=
ENST00000642365.2:c.5230_5234delinsCGCCA	ENSP00000495459.2:p.Arg1744=
ENST00000644417.2:c.*5746_*5750delinsCGCCA	ENSP00000493912.2:n.*5746_*5750delinsCGCCA
ENST00000646464.2:c.*7982_*7986delinsCGCCA	ENSP00000496610.2:n.*7982_*7986delinsCGCCA
ENST00000219476.9:c.5233_5237delinsCGCCA MANE Select	ENSP00000219476.3:p.Arg1745=
ENST00000350773.9:c.5164_5168delinsCGCCA	ENSP00000344383.4:p.Arg1722=
ENST00000401874.7:c.5032_5036delinsCGCCA	ENSP00000384468.2:p.Arg1678=
ENST00000568454.6:c.5065_5069delinsCGCCA	ENSP00000454487.1:p.Arg1689=
ENST00000569110.2:c.1456_1460delinsCGCCA
ENST00000569930.2:n.3115_3119delinsCGCCA
ENST00000642365.1:c.3887_3891delinsCGCCA
ENST00000642561.1:c.5092_5096delinsCGCCA	ENSP00000495099.1:p.Arg1698=
ENST00000642791.1:n.830_834delinsCGCCA
ENST00000642797.1:c.5035_5039delinsCGCCA	ENSP00000493846.1:p.Arg1679=
ENST00000642936.1:c.5101_5105delinsCGCCA	ENSP00000494514.1:p.Arg1701=
ENST00000643088.1:c.5026_5030delinsCGCCA	ENSP00000494747.1:p.Arg1676=
ENST00000643426.1:n.2881_2885delinsCGCCA
ENST00000643946.1:c.5158_5162delinsCGCCA	ENSP00000495927.1:p.Arg1720=
ENST00000644043.1:c.5104_5108delinsCGCCA	ENSP00000496262.1:p.Arg1702=
ENST00000644329.1:c.5119_5123delinsCGCCA	ENSP00000496611.1:p.Arg1707=
ENST00000644335.1:c.5029_5033delinsCGCCA	ENSP00000496317.1:p.Arg1677=
ENST00000644399.1:c.5154_5158delinsCGCCA
ENST00000645024.1:n.3317_3321delinsCGCCA
ENST00000646388.1:c.5227_5231delinsCGCCA	ENSP00000495921.1:p.Arg1743=
ENST00000646634.1:n.4048_4052delinsCGCCA
ENST00000646674.1:n.2485_2489delinsCGCCA
ENST00000647042.1:n.2456_2460delinsCGCCA
ENST00000647180.1:n.2346_2350delinsCGCCA
ENST00000219476.7:c.5233_5237delinsCGCCA	ENSP00000219476.3:p.Arg1745=
ENST00000350773.8:c.5164_5168delinsCGCCA	ENSP00000344383.4:p.Arg1722=
ENST00000382538.10:c.4888_4892delinsCGCCA	ENSP00000371978.6:p.Arg1630=
ENST00000401874.6:c.5032_5036delinsCGCCA	ENSP00000384468.2:p.Arg1678=
ENST00000439117.6:c.*4400_*4404delinsCGCCA	ENSP00000406980.2:n.*4400_*4404delinsCGCCA
ENST00000439673.6:c.4924_4928delinsCGCCA	ENSP00000399232.2:p.Arg1642=
ENST00000497886.5:n.2956_2960delinsCGCCA
ENST00000568454.5:c.5065_5069delinsCGCCA	ENSP00000454487.1:p.Arg1689=
ENST00000569110.1:c.1415_1419delinsCGCCA
ENST00000569930.1:n.2348_2352delinsCGCCA
NM_000548.3:c.5233_5237delinsCGCCA , LRG_487t1:c.5233_5237delinsCGCCA	NP_000539.2:p.Arg1745=
NM_001077183.1:c.5032_5036delinsCGCCA	NP_001070651.1:p.Arg1678=
NM_001114382.1:c.5164_5168delinsCGCCA	NP_001107854.1:p.Arg1722=
XM_005255529.3:c.5104_5108delinsCGCCA	XP_005255586.2:p.Arg1702=
XM_005255531.3:c.5035_5039delinsCGCCA	XP_005255588.2:p.Arg1679=
XM_011522636.1:c.5287_5291delinsCGCCA	XP_011520938.1:p.Arg1763=
XM_011522637.1:c.5284_5288delinsCGCCA	XP_011520939.1:p.Arg1762=
XM_011522638.1:c.5176_5180delinsCGCCA	XP_011520940.1:p.Arg1726=
XM_011522639.1:c.5158_5162delinsCGCCA	XP_011520941.1:p.Arg1720=
XM_011522640.1:c.5155_5159delinsCGCCA	XP_011520942.1:p.Arg1719=
XM_011522641.1:c.4924_4928delinsCGCCA	XP_011520943.1:p.Arg1642=
NM_000548.4:c.5233_5237delinsCGCCA	NP_000539.2:p.Arg1745=
NM_001077183.2:c.5032_5036delinsCGCCA	NP_001070651.1:p.Arg1678=
NM_001114382.2:c.5164_5168delinsCGCCA	NP_001107854.1:p.Arg1722=
NM_001318827.1:c.4924_4928delinsCGCCA	NP_001305756.1:p.Arg1642=
NM_001318829.1:c.4888_4892delinsCGCCA	NP_001305758.1:p.Arg1630=
NM_001318831.1:c.4501_4505delinsCGCCA	NP_001305760.1:p.Arg1501=
NM_001318832.1:c.5065_5069delinsCGCCA	NP_001305761.1:p.Arg1689=
NM_001363528.1:c.5035_5039delinsCGCCA	NP_001350457.1:p.Arg1679=
NM_021055.2:c.5104_5108delinsCGCCA	NP_066399.2:p.Arg1702=
XM_005255531.4:c.5035_5039delinsCGCCA	XP_005255588.2:p.Arg1679=
XM_011522636.2:c.5287_5291delinsCGCCA	XP_011520938.1:p.Arg1763=
XM_011522637.2:c.5284_5288delinsCGCCA	XP_011520939.1:p.Arg1762=
XM_011522638.2:c.5449_5453delinsCGCCA	XP_011520940.2:p.Arg1817=
XM_011522639.2:c.5158_5162delinsCGCCA	XP_011520941.1:p.Arg1720=
XM_011522640.2:c.5155_5159delinsCGCCA	XP_011520942.1:p.Arg1719=
XM_017023615.1:c.5230_5234delinsCGCCA	XP_016879104.1:p.Arg1744=
XM_017023616.1:c.5101_5105delinsCGCCA	XP_016879105.1:p.Arg1701=
XM_017023617.1:c.5197_5201delinsCGCCA	XP_016879106.1:p.Arg1733=
XM_017023618.1:c.3943_3947delinsCGCCA	XP_016879107.1:p.Arg1315=
XM_024450413.1:c.5119_5123delinsCGCCA	XP_024306181.1:p.Arg1707=
NM_000548.5:c.5233_5237delinsCGCCA MANE Select	NP_000539.2:p.Arg1745=
NM_001370404.1:c.5101_5105delinsCGCCA	NP_001357333.1:p.Arg1701=
NM_001370405.1:c.5092_5096delinsCGCCA	NP_001357334.1:p.Arg1698=
NM_001077183.3:c.5032_5036delinsCGCCA	NP_001070651.1:p.Arg1678=
NM_001114382.3:c.5164_5168delinsCGCCA	NP_001107854.1:p.Arg1722=
NM_001318827.2:c.4924_4928delinsCGCCA	NP_001305756.1:p.Arg1642=
NM_001318829.2:c.4888_4892delinsCGCCA	NP_001305758.1:p.Arg1630=
NM_001318831.2:c.4501_4505delinsCGCCA	NP_001305760.1:p.Arg1501=
NM_001318832.2:c.5065_5069delinsCGCCA	NP_001305761.1:p.Arg1689=
NM_001363528.2:c.5035_5039delinsCGCCA	NP_001350457.1:p.Arg1679=
NM_021055.3:c.5104_5108delinsCGCCA	NP_066399.2:p.Arg1702=