Canonical Allele Identifier: CA2840918598

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088116_2088119del , CM000678.2:g.2088116_2088119del	GRCh38
NC_000016.9:g.2138117_2138120del , CM000678.1:g.2138117_2138120del	GRCh37
NC_000016.8:g.2078118_2078121del	NCBI36
NG_005895.1:g.43811_43814del , LRG_487:g.43811_43814del
NG_008617.1:g.55105_55108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3486_*3489del	ENSP00000455997.2:n.*3486_*3489del
ENST00000642206.2:c.4984_4987del	ENSP00000495146.2:p.Gln1663TrpfsTer?
ENST00000642365.2:c.5134_5137del	ENSP00000495459.2:p.Gln1713TrpfsTer?
ENST00000644417.2:c.*5650_*5653del	ENSP00000493912.2:n.*5650_*5653del
ENST00000646464.2:c.*7886_*7889del	ENSP00000496610.2:n.*7886_*7889del
ENST00000219476.9:c.5137_5140del MANE Select	ENSP00000219476.3:p.Gln1714TrpfsTer?
ENST00000350773.9:c.5068_5071del	ENSP00000344383.4:p.Gln1691TrpfsTer?
ENST00000401874.7:c.4936_4939del	ENSP00000384468.2:p.Gln1647TrpfsTer?
ENST00000568454.6:c.4969_4972del	ENSP00000454487.1:p.Gln1658TrpfsTer?
ENST00000569110.2:c.1360_1363del
ENST00000569930.2:n.3019_3022del
ENST00000642365.1:c.3791_3794del
ENST00000642561.1:c.5008_5011del	ENSP00000495099.1:p.Gln1671TrpfsTer?
ENST00000642791.1:n.734_737del
ENST00000642797.1:c.4939_4942del	ENSP00000493846.1:p.Gln1648TrpfsTer?
ENST00000642936.1:c.5005_5008del	ENSP00000494514.1:p.Gln1670TrpfsTer?
ENST00000643088.1:c.4930_4933del	ENSP00000494747.1:p.Gln1645TrpfsTer?
ENST00000643426.1:n.2785_2788del
ENST00000643946.1:c.5062_5065del	ENSP00000495927.1:p.Gln1689TrpfsTer?
ENST00000644043.1:c.5008_5011del	ENSP00000496262.1:p.Gln1671TrpfsTer?
ENST00000644329.1:c.4936_4939del	ENSP00000496611.1:p.Gln1647TrpfsTer7
ENST00000644335.1:c.4933_4936del	ENSP00000496317.1:p.Gln1646TrpfsTer?
ENST00000644399.1:c.5058_5061del
ENST00000645024.1:n.3221_3224del
ENST00000646388.1:c.5131_5134del	ENSP00000495921.1:p.Gln1712TrpfsTer?
ENST00000646634.1:n.3952_3955del
ENST00000646674.1:n.2389_2392del
ENST00000647042.1:n.2360_2363del
ENST00000647180.1:n.2250_2253del
ENST00000219476.7:c.5137_5140del	ENSP00000219476.3:p.Gln1714TrpfsTer?
ENST00000350773.8:c.5068_5071del	ENSP00000344383.4:p.Gln1691TrpfsTer?
ENST00000382538.10:c.4792_4795del	ENSP00000371978.6:p.Gln1599TrpfsTer?
ENST00000401874.6:c.4936_4939del	ENSP00000384468.2:p.Gln1647TrpfsTer?
ENST00000439117.6:c.*4304_*4307del	ENSP00000406980.2:n.*4304_*4307del
ENST00000439673.6:c.4828_4831del	ENSP00000399232.2:p.Gln1611TrpfsTer?
ENST00000497886.5:n.2860_2863del
ENST00000568454.5:c.4969_4972del	ENSP00000454487.1:p.Gln1658TrpfsTer?
ENST00000569110.1:c.1319_1322del
ENST00000569930.1:n.2252_2255del
NM_000548.3:c.5137_5140del , LRG_487t1:c.5137_5140del	NP_000539.2:p.Gln1714TrpfsTer?
NM_001077183.1:c.4936_4939del	NP_001070651.1:p.Gln1647TrpfsTer?
NM_001114382.1:c.5068_5071del	NP_001107854.1:p.Gln1691TrpfsTer?
XM_005255529.3:c.5008_5011del	XP_005255586.2:p.Gln1671TrpfsTer?
XM_005255531.3:c.4939_4942del	XP_005255588.2:p.Gln1648TrpfsTer?
XM_011522636.1:c.5191_5194del	XP_011520938.1:p.Gln1732TrpfsTer?
XM_011522637.1:c.5188_5191del	XP_011520939.1:p.Gln1731TrpfsTer?
XM_011522638.1:c.5080_5083del	XP_011520940.1:p.Gln1695TrpfsTer?
XM_011522639.1:c.5062_5065del	XP_011520941.1:p.Gln1689TrpfsTer?
XM_011522640.1:c.5059_5062del	XP_011520942.1:p.Gln1688TrpfsTer?
XM_011522641.1:c.4828_4831del	XP_011520943.1:p.Gln1611TrpfsTer?
NM_000548.4:c.5137_5140del	NP_000539.2:p.Gln1714TrpfsTer?
NM_001077183.2:c.4936_4939del	NP_001070651.1:p.Gln1647TrpfsTer?
NM_001114382.2:c.5068_5071del	NP_001107854.1:p.Gln1691TrpfsTer?
NM_001318827.1:c.4828_4831del	NP_001305756.1:p.Gln1611TrpfsTer?
NM_001318829.1:c.4792_4795del	NP_001305758.1:p.Gln1599TrpfsTer?
NM_001318831.1:c.4405_4408del	NP_001305760.1:p.Gln1470TrpfsTer?
NM_001318832.1:c.4969_4972del	NP_001305761.1:p.Gln1658TrpfsTer?
NM_001363528.1:c.4939_4942del	NP_001350457.1:p.Gln1648TrpfsTer?
NM_021055.2:c.5008_5011del	NP_066399.2:p.Gln1671TrpfsTer?
XM_005255531.4:c.4939_4942del	XP_005255588.2:p.Gln1648TrpfsTer?
XM_011522636.2:c.5191_5194del	XP_011520938.1:p.Gln1732TrpfsTer?
XM_011522637.2:c.5188_5191del	XP_011520939.1:p.Gln1731TrpfsTer?
XM_011522638.2:c.5353_5356del	XP_011520940.2:p.Gln1786TrpfsTer?
XM_011522639.2:c.5062_5065del	XP_011520941.1:p.Gln1689TrpfsTer?
XM_011522640.2:c.5059_5062del	XP_011520942.1:p.Gln1688TrpfsTer?
XM_017023615.1:c.5134_5137del	XP_016879104.1:p.Gln1713TrpfsTer?
XM_017023616.1:c.5005_5008del	XP_016879105.1:p.Gln1670TrpfsTer?
XM_017023617.1:c.5101_5104del	XP_016879106.1:p.Gln1702TrpfsTer?
XM_017023618.1:c.3847_3850del	XP_016879107.1:p.Gln1284TrpfsTer?
XM_024450413.1:c.4936_4939del	XP_024306181.1:p.Gln1647TrpfsTer7
NM_000548.5:c.5137_5140del MANE Select	NP_000539.2:p.Gln1714TrpfsTer?
NM_001370404.1:c.5005_5008del	NP_001357333.1:p.Gln1670TrpfsTer?
NM_001370405.1:c.5008_5011del	NP_001357334.1:p.Gln1671TrpfsTer?
NM_001077183.3:c.4936_4939del	NP_001070651.1:p.Gln1647TrpfsTer?
NM_001114382.3:c.5068_5071del	NP_001107854.1:p.Gln1691TrpfsTer?
NM_001318827.2:c.4828_4831del	NP_001305756.1:p.Gln1611TrpfsTer?
NM_001318829.2:c.4792_4795del	NP_001305758.1:p.Gln1599TrpfsTer?
NM_001318831.2:c.4405_4408del	NP_001305760.1:p.Gln1470TrpfsTer?
NM_001318832.2:c.4969_4972del	NP_001305761.1:p.Gln1658TrpfsTer?
NM_001363528.2:c.4939_4942del	NP_001350457.1:p.Gln1648TrpfsTer?
NM_021055.3:c.5008_5011del	NP_066399.2:p.Gln1671TrpfsTer?