Canonical Allele Identifier: CA2202031774

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088252_2088256delinsGCTCC , CM000678.2:g.2088252_2088256delinsGCTCC	GRCh38
NC_000016.9:g.2138253_2138257delinsGCTCC , CM000678.1:g.2138253_2138257delinsGCTCC	GRCh37
NC_000016.8:g.2078254_2078258delinsGCTCC	NCBI36
NG_005895.1:g.43947_43951delinsGCTCC , LRG_487:g.43947_43951delinsGCTCC
NG_008617.1:g.54965_54969delinsGGAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3535_*3539delinsGCTCC	ENSP00000455997.2:n.*3535_*3539delinsGCTCC
ENST00000642206.2:c.5033_5037delinsGCTCC	ENSP00000495146.2:p.Arg1678=
ENST00000642365.2:c.5183_5187delinsGCTCC	ENSP00000495459.2:p.Arg1728=
ENST00000644417.2:c.*5699_*5703delinsGCTCC	ENSP00000493912.2:n.*5699_*5703delinsGCTCC
ENST00000646464.2:c.*7935_*7939delinsGCTCC	ENSP00000496610.2:n.*7935_*7939delinsGCTCC
ENST00000219476.9:c.5186_5190delinsGCTCC MANE Select	ENSP00000219476.3:p.Arg1729=
ENST00000350773.9:c.5117_5121delinsGCTCC	ENSP00000344383.4:p.Arg1706=
ENST00000401874.7:c.4985_4989delinsGCTCC	ENSP00000384468.2:p.Arg1662=
ENST00000568454.6:c.5018_5022delinsGCTCC	ENSP00000454487.1:p.Arg1673=
ENST00000569110.2:c.1409_1413delinsGCTCC
ENST00000569930.2:n.3068_3072delinsGCTCC
ENST00000642365.1:c.3840_3844delinsGCTCC
ENST00000642561.1:c.5045_5049delinsGCTCC	ENSP00000495099.1:p.Arg1682=
ENST00000642791.1:n.783_787delinsGCTCC
ENST00000642797.1:c.4988_4992delinsGCTCC	ENSP00000493846.1:p.Arg1663=
ENST00000642936.1:c.5054_5058delinsGCTCC	ENSP00000494514.1:p.Arg1685=
ENST00000643088.1:c.4979_4983delinsGCTCC	ENSP00000494747.1:p.Arg1660=
ENST00000643426.1:n.2834_2838delinsGCTCC
ENST00000643946.1:c.5111_5115delinsGCTCC	ENSP00000495927.1:p.Arg1704=
ENST00000644043.1:c.5057_5061delinsGCTCC	ENSP00000496262.1:p.Arg1686=
ENST00000644329.1:c.5072_5076delinsGCTCC	ENSP00000496611.1:p.Arg1691=
ENST00000644335.1:c.4982_4986delinsGCTCC	ENSP00000496317.1:p.Arg1661=
ENST00000644399.1:c.5107_5111delinsGCTCC
ENST00000645024.1:n.3270_3274delinsGCTCC
ENST00000646388.1:c.5180_5184delinsGCTCC	ENSP00000495921.1:p.Arg1727=
ENST00000646634.1:n.4001_4005delinsGCTCC
ENST00000646674.1:n.2438_2442delinsGCTCC
ENST00000647042.1:n.2409_2413delinsGCTCC
ENST00000647180.1:n.2299_2303delinsGCTCC
ENST00000219476.7:c.5186_5190delinsGCTCC	ENSP00000219476.3:p.Arg1729=
ENST00000350773.8:c.5117_5121delinsGCTCC	ENSP00000344383.4:p.Arg1706=
ENST00000382538.10:c.4841_4845delinsGCTCC	ENSP00000371978.6:p.Arg1614=
ENST00000401874.6:c.4985_4989delinsGCTCC	ENSP00000384468.2:p.Arg1662=
ENST00000439117.6:c.*4353_*4357delinsGCTCC	ENSP00000406980.2:n.*4353_*4357delinsGCTCC
ENST00000439673.6:c.4877_4881delinsGCTCC	ENSP00000399232.2:p.Arg1626=
ENST00000497886.5:n.2909_2913delinsGCTCC
ENST00000568454.5:c.5018_5022delinsGCTCC	ENSP00000454487.1:p.Arg1673=
ENST00000569110.1:c.1368_1372delinsGCTCC
ENST00000569930.1:n.2301_2305delinsGCTCC
NM_000548.3:c.5186_5190delinsGCTCC , LRG_487t1:c.5186_5190delinsGCTCC	NP_000539.2:p.Arg1729=
NM_001077183.1:c.4985_4989delinsGCTCC	NP_001070651.1:p.Arg1662=
NM_001114382.1:c.5117_5121delinsGCTCC	NP_001107854.1:p.Arg1706=
XM_005255529.3:c.5057_5061delinsGCTCC	XP_005255586.2:p.Arg1686=
XM_005255531.3:c.4988_4992delinsGCTCC	XP_005255588.2:p.Arg1663=
XM_011522636.1:c.5240_5244delinsGCTCC	XP_011520938.1:p.Arg1747=
XM_011522637.1:c.5237_5241delinsGCTCC	XP_011520939.1:p.Arg1746=
XM_011522638.1:c.5129_5133delinsGCTCC	XP_011520940.1:p.Arg1710=
XM_011522639.1:c.5111_5115delinsGCTCC	XP_011520941.1:p.Arg1704=
XM_011522640.1:c.5108_5112delinsGCTCC	XP_011520942.1:p.Arg1703=
XM_011522641.1:c.4877_4881delinsGCTCC	XP_011520943.1:p.Arg1626=
NM_000548.4:c.5186_5190delinsGCTCC	NP_000539.2:p.Arg1729=
NM_001077183.2:c.4985_4989delinsGCTCC	NP_001070651.1:p.Arg1662=
NM_001114382.2:c.5117_5121delinsGCTCC	NP_001107854.1:p.Arg1706=
NM_001318827.1:c.4877_4881delinsGCTCC	NP_001305756.1:p.Arg1626=
NM_001318829.1:c.4841_4845delinsGCTCC	NP_001305758.1:p.Arg1614=
NM_001318831.1:c.4454_4458delinsGCTCC	NP_001305760.1:p.Arg1485=
NM_001318832.1:c.5018_5022delinsGCTCC	NP_001305761.1:p.Arg1673=
NM_001363528.1:c.4988_4992delinsGCTCC	NP_001350457.1:p.Arg1663=
NM_021055.2:c.5057_5061delinsGCTCC	NP_066399.2:p.Arg1686=
XM_005255531.4:c.4988_4992delinsGCTCC	XP_005255588.2:p.Arg1663=
XM_011522636.2:c.5240_5244delinsGCTCC	XP_011520938.1:p.Arg1747=
XM_011522637.2:c.5237_5241delinsGCTCC	XP_011520939.1:p.Arg1746=
XM_011522638.2:c.5402_5406delinsGCTCC	XP_011520940.2:p.Arg1801=
XM_011522639.2:c.5111_5115delinsGCTCC	XP_011520941.1:p.Arg1704=
XM_011522640.2:c.5108_5112delinsGCTCC	XP_011520942.1:p.Arg1703=
XM_017023615.1:c.5183_5187delinsGCTCC	XP_016879104.1:p.Arg1728=
XM_017023616.1:c.5054_5058delinsGCTCC	XP_016879105.1:p.Arg1685=
XM_017023617.1:c.5150_5154delinsGCTCC	XP_016879106.1:p.Arg1717=
XM_017023618.1:c.3896_3900delinsGCTCC	XP_016879107.1:p.Arg1299=
XM_024450413.1:c.5072_5076delinsGCTCC	XP_024306181.1:p.Arg1691=
NM_000548.5:c.5186_5190delinsGCTCC MANE Select	NP_000539.2:p.Arg1729=
NM_001370404.1:c.5054_5058delinsGCTCC	NP_001357333.1:p.Arg1685=
NM_001370405.1:c.5045_5049delinsGCTCC	NP_001357334.1:p.Arg1682=
NM_001077183.3:c.4985_4989delinsGCTCC	NP_001070651.1:p.Arg1662=
NM_001114382.3:c.5117_5121delinsGCTCC	NP_001107854.1:p.Arg1706=
NM_001318827.2:c.4877_4881delinsGCTCC	NP_001305756.1:p.Arg1626=
NM_001318829.2:c.4841_4845delinsGCTCC	NP_001305758.1:p.Arg1614=
NM_001318831.2:c.4454_4458delinsGCTCC	NP_001305760.1:p.Arg1485=
NM_001318832.2:c.5018_5022delinsGCTCC	NP_001305761.1:p.Arg1673=
NM_001363528.2:c.4988_4992delinsGCTCC	NP_001350457.1:p.Arg1663=
NM_021055.3:c.5057_5061delinsGCTCC	NP_066399.2:p.Arg1686=