Canonical Allele Identifier: CA2202032038

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088274_2088278delinsCCCCT , CM000678.2:g.2088274_2088278delinsCCCCT	GRCh38
NC_000016.9:g.2138275_2138279delinsCCCCT , CM000678.1:g.2138275_2138279delinsCCCCT	GRCh37
NC_000016.8:g.2078276_2078280delinsCCCCT	NCBI36
NG_005895.1:g.43969_43973delinsCCCCT , LRG_487:g.43969_43973delinsCCCCT
NG_008617.1:g.54943_54947delinsAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3557_*3561delinsCCCCT	ENSP00000455997.2:n.*3557_*3561delinsCCCCT
ENST00000642206.2:c.5055_5059delinsCCCCT	ENSP00000495146.2:p.Tyr1685=
ENST00000642365.2:c.5205_5209delinsCCCCT	ENSP00000495459.2:p.Tyr1735=
ENST00000644417.2:c.*5721_*5725delinsCCCCT	ENSP00000493912.2:n.*5721_*5725delinsCCCCT
ENST00000646464.2:c.*7957_*7961delinsCCCCT	ENSP00000496610.2:n.*7957_*7961delinsCCCCT
ENST00000219476.9:c.5208_5212delinsCCCCT MANE Select	ENSP00000219476.3:p.Tyr1736=
ENST00000350773.9:c.5139_5143delinsCCCCT	ENSP00000344383.4:p.Tyr1713=
ENST00000401874.7:c.5007_5011delinsCCCCT	ENSP00000384468.2:p.Tyr1669=
ENST00000568454.6:c.5040_5044delinsCCCCT	ENSP00000454487.1:p.Tyr1680=
ENST00000569110.2:c.1431_1435delinsCCCCT
ENST00000569930.2:n.3090_3094delinsCCCCT
ENST00000642365.1:c.3862_3866delinsCCCCT
ENST00000642561.1:c.5067_5071delinsCCCCT	ENSP00000495099.1:p.Tyr1689=
ENST00000642791.1:n.805_809delinsCCCCT
ENST00000642797.1:c.5010_5014delinsCCCCT	ENSP00000493846.1:p.Tyr1670=
ENST00000642936.1:c.5076_5080delinsCCCCT	ENSP00000494514.1:p.Tyr1692=
ENST00000643088.1:c.5001_5005delinsCCCCT	ENSP00000494747.1:p.Tyr1667=
ENST00000643426.1:n.2856_2860delinsCCCCT
ENST00000643946.1:c.5133_5137delinsCCCCT	ENSP00000495927.1:p.Tyr1711=
ENST00000644043.1:c.5079_5083delinsCCCCT	ENSP00000496262.1:p.Tyr1693=
ENST00000644329.1:c.5094_5098delinsCCCCT	ENSP00000496611.1:p.Tyr1698=
ENST00000644335.1:c.5004_5008delinsCCCCT	ENSP00000496317.1:p.Tyr1668=
ENST00000644399.1:c.5129_5133delinsCCCCT
ENST00000645024.1:n.3292_3296delinsCCCCT
ENST00000646388.1:c.5202_5206delinsCCCCT	ENSP00000495921.1:p.Tyr1734=
ENST00000646634.1:n.4023_4027delinsCCCCT
ENST00000646674.1:n.2460_2464delinsCCCCT
ENST00000647042.1:n.2431_2435delinsCCCCT
ENST00000647180.1:n.2321_2325delinsCCCCT
ENST00000219476.7:c.5208_5212delinsCCCCT	ENSP00000219476.3:p.Tyr1736=
ENST00000350773.8:c.5139_5143delinsCCCCT	ENSP00000344383.4:p.Tyr1713=
ENST00000382538.10:c.4863_4867delinsCCCCT	ENSP00000371978.6:p.Tyr1621=
ENST00000401874.6:c.5007_5011delinsCCCCT	ENSP00000384468.2:p.Tyr1669=
ENST00000439117.6:c.*4375_*4379delinsCCCCT	ENSP00000406980.2:n.*4375_*4379delinsCCCCT
ENST00000439673.6:c.4899_4903delinsCCCCT	ENSP00000399232.2:p.Tyr1633=
ENST00000497886.5:n.2931_2935delinsCCCCT
ENST00000568454.5:c.5040_5044delinsCCCCT	ENSP00000454487.1:p.Tyr1680=
ENST00000569110.1:c.1390_1394delinsCCCCT
ENST00000569930.1:n.2323_2327delinsCCCCT
NM_000548.3:c.5208_5212delinsCCCCT , LRG_487t1:c.5208_5212delinsCCCCT	NP_000539.2:p.Tyr1736=
NM_001077183.1:c.5007_5011delinsCCCCT	NP_001070651.1:p.Tyr1669=
NM_001114382.1:c.5139_5143delinsCCCCT	NP_001107854.1:p.Tyr1713=
XM_005255529.3:c.5079_5083delinsCCCCT	XP_005255586.2:p.Tyr1693=
XM_005255531.3:c.5010_5014delinsCCCCT	XP_005255588.2:p.Tyr1670=
XM_011522636.1:c.5262_5266delinsCCCCT	XP_011520938.1:p.Tyr1754=
XM_011522637.1:c.5259_5263delinsCCCCT	XP_011520939.1:p.Tyr1753=
XM_011522638.1:c.5151_5155delinsCCCCT	XP_011520940.1:p.Tyr1717=
XM_011522639.1:c.5133_5137delinsCCCCT	XP_011520941.1:p.Tyr1711=
XM_011522640.1:c.5130_5134delinsCCCCT	XP_011520942.1:p.Tyr1710=
XM_011522641.1:c.4899_4903delinsCCCCT	XP_011520943.1:p.Tyr1633=
NM_000548.4:c.5208_5212delinsCCCCT	NP_000539.2:p.Tyr1736=
NM_001077183.2:c.5007_5011delinsCCCCT	NP_001070651.1:p.Tyr1669=
NM_001114382.2:c.5139_5143delinsCCCCT	NP_001107854.1:p.Tyr1713=
NM_001318827.1:c.4899_4903delinsCCCCT	NP_001305756.1:p.Tyr1633=
NM_001318829.1:c.4863_4867delinsCCCCT	NP_001305758.1:p.Tyr1621=
NM_001318831.1:c.4476_4480delinsCCCCT	NP_001305760.1:p.Tyr1492=
NM_001318832.1:c.5040_5044delinsCCCCT	NP_001305761.1:p.Tyr1680=
NM_001363528.1:c.5010_5014delinsCCCCT	NP_001350457.1:p.Tyr1670=
NM_021055.2:c.5079_5083delinsCCCCT	NP_066399.2:p.Tyr1693=
XM_005255531.4:c.5010_5014delinsCCCCT	XP_005255588.2:p.Tyr1670=
XM_011522636.2:c.5262_5266delinsCCCCT	XP_011520938.1:p.Tyr1754=
XM_011522637.2:c.5259_5263delinsCCCCT	XP_011520939.1:p.Tyr1753=
XM_011522638.2:c.5424_5428delinsCCCCT	XP_011520940.2:p.Tyr1808=
XM_011522639.2:c.5133_5137delinsCCCCT	XP_011520941.1:p.Tyr1711=
XM_011522640.2:c.5130_5134delinsCCCCT	XP_011520942.1:p.Tyr1710=
XM_017023615.1:c.5205_5209delinsCCCCT	XP_016879104.1:p.Tyr1735=
XM_017023616.1:c.5076_5080delinsCCCCT	XP_016879105.1:p.Tyr1692=
XM_017023617.1:c.5172_5176delinsCCCCT	XP_016879106.1:p.Tyr1724=
XM_017023618.1:c.3918_3922delinsCCCCT	XP_016879107.1:p.Tyr1306=
XM_024450413.1:c.5094_5098delinsCCCCT	XP_024306181.1:p.Tyr1698=
NM_000548.5:c.5208_5212delinsCCCCT MANE Select	NP_000539.2:p.Tyr1736=
NM_001370404.1:c.5076_5080delinsCCCCT	NP_001357333.1:p.Tyr1692=
NM_001370405.1:c.5067_5071delinsCCCCT	NP_001357334.1:p.Tyr1689=
NM_001077183.3:c.5007_5011delinsCCCCT	NP_001070651.1:p.Tyr1669=
NM_001114382.3:c.5139_5143delinsCCCCT	NP_001107854.1:p.Tyr1713=
NM_001318827.2:c.4899_4903delinsCCCCT	NP_001305756.1:p.Tyr1633=
NM_001318829.2:c.4863_4867delinsCCCCT	NP_001305758.1:p.Tyr1621=
NM_001318831.2:c.4476_4480delinsCCCCT	NP_001305760.1:p.Tyr1492=
NM_001318832.2:c.5040_5044delinsCCCCT	NP_001305761.1:p.Tyr1680=
NM_001363528.2:c.5010_5014delinsCCCCT	NP_001350457.1:p.Tyr1670=
NM_021055.3:c.5079_5083delinsCCCCT	NP_066399.2:p.Tyr1693=