Canonical Allele Identifier: CA2202031884

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088262_2088268delinsCACCGAT , CM000678.2:g.2088262_2088268delinsCACCGAT	GRCh38
NC_000016.9:g.2138263_2138269delinsCACCGAT , CM000678.1:g.2138263_2138269delinsCACCGAT	GRCh37
NC_000016.8:g.2078264_2078270delinsCACCGAT	NCBI36
NG_005895.1:g.43957_43963delinsCACCGAT , LRG_487:g.43957_43963delinsCACCGAT
NG_008617.1:g.54953_54959delinsATCGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3545_*3551delinsCACCGAT	ENSP00000455997.2:n.*3545_*3551delinsCACCGAT
ENST00000642206.2:c.5043_5049delinsCACCGAT	ENSP00000495146.2:p.Pro1681=
ENST00000642365.2:c.5193_5199delinsCACCGAT	ENSP00000495459.2:p.Pro1731=
ENST00000644417.2:c.*5709_*5715delinsCACCGAT	ENSP00000493912.2:n.*5709_*5715delinsCACCGAT
ENST00000646464.2:c.*7945_*7951delinsCACCGAT	ENSP00000496610.2:n.*7945_*7951delinsCACCGAT
ENST00000219476.9:c.5196_5202delinsCACCGAT MANE Select	ENSP00000219476.3:p.Pro1732=
ENST00000350773.9:c.5127_5133delinsCACCGAT	ENSP00000344383.4:p.Pro1709=
ENST00000401874.7:c.4995_5001delinsCACCGAT	ENSP00000384468.2:p.Pro1665=
ENST00000568454.6:c.5028_5034delinsCACCGAT	ENSP00000454487.1:p.Pro1676=
ENST00000569110.2:c.1419_1425delinsCACCGAT
ENST00000569930.2:n.3078_3084delinsCACCGAT
ENST00000642365.1:c.3850_3856delinsCACCGAT
ENST00000642561.1:c.5055_5061delinsCACCGAT	ENSP00000495099.1:p.Pro1685=
ENST00000642791.1:n.793_799delinsCACCGAT
ENST00000642797.1:c.4998_5004delinsCACCGAT	ENSP00000493846.1:p.Pro1666=
ENST00000642936.1:c.5064_5070delinsCACCGAT	ENSP00000494514.1:p.Pro1688=
ENST00000643088.1:c.4989_4995delinsCACCGAT	ENSP00000494747.1:p.Pro1663=
ENST00000643426.1:n.2844_2850delinsCACCGAT
ENST00000643946.1:c.5121_5127delinsCACCGAT	ENSP00000495927.1:p.Pro1707=
ENST00000644043.1:c.5067_5073delinsCACCGAT	ENSP00000496262.1:p.Pro1689=
ENST00000644329.1:c.5082_5088delinsCACCGAT	ENSP00000496611.1:p.Pro1694=
ENST00000644335.1:c.4992_4998delinsCACCGAT	ENSP00000496317.1:p.Pro1664=
ENST00000644399.1:c.5117_5123delinsCACCGAT
ENST00000645024.1:n.3280_3286delinsCACCGAT
ENST00000646388.1:c.5190_5196delinsCACCGAT	ENSP00000495921.1:p.Pro1730=
ENST00000646634.1:n.4011_4017delinsCACCGAT
ENST00000646674.1:n.2448_2454delinsCACCGAT
ENST00000647042.1:n.2419_2425delinsCACCGAT
ENST00000647180.1:n.2309_2315delinsCACCGAT
ENST00000219476.7:c.5196_5202delinsCACCGAT	ENSP00000219476.3:p.Pro1732=
ENST00000350773.8:c.5127_5133delinsCACCGAT	ENSP00000344383.4:p.Pro1709=
ENST00000382538.10:c.4851_4857delinsCACCGAT	ENSP00000371978.6:p.Pro1617=
ENST00000401874.6:c.4995_5001delinsCACCGAT	ENSP00000384468.2:p.Pro1665=
ENST00000439117.6:c.*4363_*4369delinsCACCGAT	ENSP00000406980.2:n.*4363_*4369delinsCACCGAT
ENST00000439673.6:c.4887_4893delinsCACCGAT	ENSP00000399232.2:p.Pro1629=
ENST00000497886.5:n.2919_2925delinsCACCGAT
ENST00000568454.5:c.5028_5034delinsCACCGAT	ENSP00000454487.1:p.Pro1676=
ENST00000569110.1:c.1378_1384delinsCACCGAT
ENST00000569930.1:n.2311_2317delinsCACCGAT
NM_000548.3:c.5196_5202delinsCACCGAT , LRG_487t1:c.5196_5202delinsCACCGAT	NP_000539.2:p.Pro1732=
NM_001077183.1:c.4995_5001delinsCACCGAT	NP_001070651.1:p.Pro1665=
NM_001114382.1:c.5127_5133delinsCACCGAT	NP_001107854.1:p.Pro1709=
XM_005255529.3:c.5067_5073delinsCACCGAT	XP_005255586.2:p.Pro1689=
XM_005255531.3:c.4998_5004delinsCACCGAT	XP_005255588.2:p.Pro1666=
XM_011522636.1:c.5250_5256delinsCACCGAT	XP_011520938.1:p.Pro1750=
XM_011522637.1:c.5247_5253delinsCACCGAT	XP_011520939.1:p.Pro1749=
XM_011522638.1:c.5139_5145delinsCACCGAT	XP_011520940.1:p.Pro1713=
XM_011522639.1:c.5121_5127delinsCACCGAT	XP_011520941.1:p.Pro1707=
XM_011522640.1:c.5118_5124delinsCACCGAT	XP_011520942.1:p.Pro1706=
XM_011522641.1:c.4887_4893delinsCACCGAT	XP_011520943.1:p.Pro1629=
NM_000548.4:c.5196_5202delinsCACCGAT	NP_000539.2:p.Pro1732=
NM_001077183.2:c.4995_5001delinsCACCGAT	NP_001070651.1:p.Pro1665=
NM_001114382.2:c.5127_5133delinsCACCGAT	NP_001107854.1:p.Pro1709=
NM_001318827.1:c.4887_4893delinsCACCGAT	NP_001305756.1:p.Pro1629=
NM_001318829.1:c.4851_4857delinsCACCGAT	NP_001305758.1:p.Pro1617=
NM_001318831.1:c.4464_4470delinsCACCGAT	NP_001305760.1:p.Pro1488=
NM_001318832.1:c.5028_5034delinsCACCGAT	NP_001305761.1:p.Pro1676=
NM_001363528.1:c.4998_5004delinsCACCGAT	NP_001350457.1:p.Pro1666=
NM_021055.2:c.5067_5073delinsCACCGAT	NP_066399.2:p.Pro1689=
XM_005255531.4:c.4998_5004delinsCACCGAT	XP_005255588.2:p.Pro1666=
XM_011522636.2:c.5250_5256delinsCACCGAT	XP_011520938.1:p.Pro1750=
XM_011522637.2:c.5247_5253delinsCACCGAT	XP_011520939.1:p.Pro1749=
XM_011522638.2:c.5412_5418delinsCACCGAT	XP_011520940.2:p.Pro1804=
XM_011522639.2:c.5121_5127delinsCACCGAT	XP_011520941.1:p.Pro1707=
XM_011522640.2:c.5118_5124delinsCACCGAT	XP_011520942.1:p.Pro1706=
XM_017023615.1:c.5193_5199delinsCACCGAT	XP_016879104.1:p.Pro1731=
XM_017023616.1:c.5064_5070delinsCACCGAT	XP_016879105.1:p.Pro1688=
XM_017023617.1:c.5160_5166delinsCACCGAT	XP_016879106.1:p.Pro1720=
XM_017023618.1:c.3906_3912delinsCACCGAT	XP_016879107.1:p.Pro1302=
XM_024450413.1:c.5082_5088delinsCACCGAT	XP_024306181.1:p.Pro1694=
NM_000548.5:c.5196_5202delinsCACCGAT MANE Select	NP_000539.2:p.Pro1732=
NM_001370404.1:c.5064_5070delinsCACCGAT	NP_001357333.1:p.Pro1688=
NM_001370405.1:c.5055_5061delinsCACCGAT	NP_001357334.1:p.Pro1685=
NM_001077183.3:c.4995_5001delinsCACCGAT	NP_001070651.1:p.Pro1665=
NM_001114382.3:c.5127_5133delinsCACCGAT	NP_001107854.1:p.Pro1709=
NM_001318827.2:c.4887_4893delinsCACCGAT	NP_001305756.1:p.Pro1629=
NM_001318829.2:c.4851_4857delinsCACCGAT	NP_001305758.1:p.Pro1617=
NM_001318831.2:c.4464_4470delinsCACCGAT	NP_001305760.1:p.Pro1488=
NM_001318832.2:c.5028_5034delinsCACCGAT	NP_001305761.1:p.Pro1676=
NM_001363528.2:c.4998_5004delinsCACCGAT	NP_001350457.1:p.Pro1666=
NM_021055.3:c.5067_5073delinsCACCGAT	NP_066399.2:p.Pro1689=