Canonical Allele Identifier: CA2695222024

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084537_2084548delinsCT , CM000678.2:g.2084537_2084548delinsCT	GRCh38
NC_000016.9:g.2134538_2134549delinsCT , CM000678.1:g.2134538_2134549delinsCT	GRCh37
NC_000016.8:g.2074539_2074550delinsCT	NCBI36
NG_005895.1:g.40232_40243delinsCT , LRG_487:g.40232_40243delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2664_*2675delinsCT	ENSP00000455997.2:n.*2664_*2675delinsCT
ENST00000642206.2:c.4162_4173delinsCT	ENSP00000495146.2:p.Gly1388LeufsTer?
ENST00000642365.2:c.4312_4323delinsCT	ENSP00000495459.2:p.Gly1438LeufsTer?
ENST00000644417.2:c.*4695_*4706delinsCT	ENSP00000493912.2:n.*4695_*4706delinsCT
ENST00000646464.2:c.*7064_*7075delinsCT	ENSP00000496610.2:n.*7064_*7075delinsCT
ENST00000219476.9:c.4315_4326delinsCT MANE Select	ENSP00000219476.3:p.Gly1439LeufsTer?
ENST00000350773.9:c.4246_4257delinsCT	ENSP00000344383.4:p.Gly1416LeufsTer?
ENST00000401874.7:c.4114_4125delinsCT	ENSP00000384468.2:p.Gly1372LeufsTer?
ENST00000568454.6:c.4147_4158delinsCT	ENSP00000454487.1:p.Gly1383LeufsTer?
ENST00000569110.2:c.551_562delinsCT
ENST00000569930.2:n.2197_2208delinsCT
ENST00000642365.1:c.2969_2980delinsCT
ENST00000642561.1:c.4186_4197delinsCT	ENSP00000495099.1:p.Gly1396LeufsTer?
ENST00000642728.1:n.497_508delinsCT
ENST00000642797.1:c.4117_4128delinsCT	ENSP00000493846.1:p.Gly1373LeufsTer?
ENST00000642936.1:c.4183_4194delinsCT	ENSP00000494514.1:p.Gly1395LeufsTer?
ENST00000643088.1:c.4114_4125delinsCT	ENSP00000494747.1:p.Gly1372LeufsTer?
ENST00000643177.1:n.329_340delinsCT
ENST00000643426.1:n.1963_1974delinsCT
ENST00000643946.1:c.4246_4257delinsCT	ENSP00000495927.1:p.Gly1416LeufsTer?
ENST00000644043.1:c.4186_4197delinsCT	ENSP00000496262.1:p.Gly1396LeufsTer?
ENST00000644329.1:c.4114_4125delinsCT	ENSP00000496611.1:p.Gly1372LeufsTer?
ENST00000644335.1:c.4117_4128delinsCT	ENSP00000496317.1:p.Gly1373LeufsTer?
ENST00000644399.1:c.4236_4247delinsCT
ENST00000645024.1:n.2399_2410delinsCT
ENST00000646388.1:c.4315_4326delinsCT	ENSP00000495921.1:p.Gly1439LeufsTer?
ENST00000646634.1:n.3130_3141delinsCT
ENST00000646674.1:n.1567_1578delinsCT
ENST00000647042.1:n.1538_1549delinsCT
ENST00000647180.1:n.1428_1439delinsCT
ENST00000219476.7:c.4315_4326delinsCT	ENSP00000219476.3:p.Gly1439LeufsTer?
ENST00000350773.8:c.4246_4257delinsCT	ENSP00000344383.4:p.Gly1416LeufsTer?
ENST00000382538.10:c.3970_3981delinsCT	ENSP00000371978.6:p.Gly1324LeufsTer?
ENST00000401874.6:c.4114_4125delinsCT	ENSP00000384468.2:p.Gly1372LeufsTer?
ENST00000439117.6:c.*3482_*3493delinsCT	ENSP00000406980.2:n.*3482_*3493delinsCT
ENST00000439673.6:c.4006_4017delinsCT	ENSP00000399232.2:p.Gly1336LeufsTer?
ENST00000497886.5:n.2073_2084delinsCT
ENST00000568454.5:c.4147_4158delinsCT	ENSP00000454487.1:p.Gly1383LeufsTer?
ENST00000569110.1:c.497_508delinsCT
ENST00000569930.1:n.1430_1441delinsCT
NM_000548.3:c.4315_4326delinsCT , LRG_487t1:c.4315_4326delinsCT	NP_000539.2:p.Gly1439LeufsTer?
NM_001077183.1:c.4114_4125delinsCT	NP_001070651.1:p.Gly1372LeufsTer?
NM_001114382.1:c.4246_4257delinsCT	NP_001107854.1:p.Gly1416LeufsTer?
XM_005255529.3:c.4186_4197delinsCT	XP_005255586.2:p.Gly1396LeufsTer?
XM_005255531.3:c.4117_4128delinsCT	XP_005255588.2:p.Gly1373LeufsTer?
XM_011522636.1:c.4369_4380delinsCT	XP_011520938.1:p.Gly1457LeufsTer?
XM_011522637.1:c.4366_4377delinsCT	XP_011520939.1:p.Gly1456LeufsTer?
XM_011522638.1:c.4258_4269delinsCT	XP_011520940.1:p.Gly1420LeufsTer?
XM_011522639.1:c.4240_4251delinsCT	XP_011520941.1:p.Gly1414LeufsTer?
XM_011522640.1:c.4237_4248delinsCT	XP_011520942.1:p.Gly1413LeufsTer?
XM_011522641.1:c.4006_4017delinsCT	XP_011520943.1:p.Gly1336LeufsTer?
NM_000548.4:c.4315_4326delinsCT	NP_000539.2:p.Gly1439LeufsTer?
NM_001077183.2:c.4114_4125delinsCT	NP_001070651.1:p.Gly1372LeufsTer?
NM_001114382.2:c.4246_4257delinsCT	NP_001107854.1:p.Gly1416LeufsTer?
NM_001318827.1:c.4006_4017delinsCT	NP_001305756.1:p.Gly1336LeufsTer?
NM_001318829.1:c.3970_3981delinsCT	NP_001305758.1:p.Gly1324LeufsTer?
NM_001318831.1:c.3583_3594delinsCT	NP_001305760.1:p.Gly1195LeufsTer?
NM_001318832.1:c.4147_4158delinsCT	NP_001305761.1:p.Gly1383LeufsTer?
NM_001363528.1:c.4117_4128delinsCT	NP_001350457.1:p.Gly1373LeufsTer?
NM_021055.2:c.4186_4197delinsCT	NP_066399.2:p.Gly1396LeufsTer?
XM_005255531.4:c.4117_4128delinsCT	XP_005255588.2:p.Gly1373LeufsTer?
XM_011522636.2:c.4369_4380delinsCT	XP_011520938.1:p.Gly1457LeufsTer?
XM_011522637.2:c.4366_4377delinsCT	XP_011520939.1:p.Gly1456LeufsTer?
XM_011522638.2:c.4531_4542delinsCT	XP_011520940.2:p.Gly1511LeufsTer?
XM_011522639.2:c.4240_4251delinsCT	XP_011520941.1:p.Gly1414LeufsTer?
XM_011522640.2:c.4237_4248delinsCT	XP_011520942.1:p.Gly1413LeufsTer?
XM_017023615.1:c.4312_4323delinsCT	XP_016879104.1:p.Gly1438LeufsTer?
XM_017023616.1:c.4183_4194delinsCT	XP_016879105.1:p.Gly1395LeufsTer?
XM_017023617.1:c.4279_4290delinsCT	XP_016879106.1:p.Gly1427LeufsTer?
XM_017023618.1:c.3025_3036delinsCT	XP_016879107.1:p.Gly1009LeufsTer?
XM_024450413.1:c.4114_4125delinsCT	XP_024306181.1:p.Gly1372LeufsTer?
NM_000548.5:c.4315_4326delinsCT MANE Select	NP_000539.2:p.Gly1439LeufsTer?
NM_001370404.1:c.4183_4194delinsCT	NP_001357333.1:p.Gly1395LeufsTer?
NM_001370405.1:c.4186_4197delinsCT	NP_001357334.1:p.Gly1396LeufsTer?
NM_001077183.3:c.4114_4125delinsCT	NP_001070651.1:p.Gly1372LeufsTer?
NM_001114382.3:c.4246_4257delinsCT	NP_001107854.1:p.Gly1416LeufsTer?
NM_001318827.2:c.4006_4017delinsCT	NP_001305756.1:p.Gly1336LeufsTer?
NM_001318829.2:c.3970_3981delinsCT	NP_001305758.1:p.Gly1324LeufsTer?
NM_001318831.2:c.3583_3594delinsCT	NP_001305760.1:p.Gly1195LeufsTer?
NM_001318832.2:c.4147_4158delinsCT	NP_001305761.1:p.Gly1383LeufsTer?
NM_001363528.2:c.4117_4128delinsCT	NP_001350457.1:p.Gly1373LeufsTer?
NM_021055.3:c.4186_4197delinsCT	NP_066399.2:p.Gly1396LeufsTer?