Canonical Allele Identifier: CA2202043419

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084246_2084249delinsCAGG , CM000678.2:g.2084246_2084249delinsCAGG	GRCh38
NC_000016.9:g.2134247_2134250delinsCAGG , CM000678.1:g.2134247_2134250delinsCAGG	GRCh37
NC_000016.8:g.2074248_2074251delinsCAGG	NCBI36
NG_005895.1:g.39941_39944delinsCAGG , LRG_487:g.39941_39944delinsCAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2373_*2376delinsCAGG	ENSP00000455997.2:n.*2373_*2376delinsCAGG...
ENST00000642206.2:c.3871_3874delinsCAGG	ENSP00000495146.2:p.Gln1291=
ENST00000642365.2:c.4021_4024delinsCAGG	ENSP00000495459.2:p.Gln1341=
ENST00000644417.2:c.*4404_*4407delinsCAGG	ENSP00000493912.2:n.*4404_*4407delinsCAGG...
ENST00000646464.2:c.*6773_*6776delinsCAGG	ENSP00000496610.2:n.*6773_*6776delinsCAGG...
ENST00000219476.9:c.4024_4027delinsCAGG MANE Select	ENSP00000219476.3:p.Gln1342=
ENST00000350773.9:c.3955_3958delinsCAGG	ENSP00000344383.4:p.Gln1319=
ENST00000401874.7:c.3823_3826delinsCAGG	ENSP00000384468.2:p.Gln1275=
ENST00000568454.6:c.3856_3859delinsCAGG	ENSP00000454487.1:p.Gln1286=
ENST00000569110.2:c.260_263delinsCAGG
ENST00000569930.2:n.1906_1909delinsCAGG
ENST00000642365.1:c.2678_2681delinsCAGG
ENST00000642561.1:c.3895_3898delinsCAGG	ENSP00000495099.1:p.Gln1299=
ENST00000642728.1:n.206_209delinsCAGG
ENST00000642797.1:c.3826_3829delinsCAGG	ENSP00000493846.1:p.Gln1276=
ENST00000642936.1:c.3892_3895delinsCAGG	ENSP00000494514.1:p.Gln1298=
ENST00000643088.1:c.3823_3826delinsCAGG	ENSP00000494747.1:p.Gln1275=
ENST00000643177.1:n.38_41delinsCAGG
ENST00000643426.1:n.1672_1675delinsCAGG
ENST00000643533.1:n.465_468delinsCAGG
ENST00000643946.1:c.3955_3958delinsCAGG	ENSP00000495927.1:p.Gln1319=
ENST00000644043.1:c.3895_3898delinsCAGG	ENSP00000496262.1:p.Gln1299=
ENST00000644329.1:c.3823_3826delinsCAGG	ENSP00000496611.1:p.Gln1275=
ENST00000644335.1:c.3826_3829delinsCAGG	ENSP00000496317.1:p.Gln1276=
ENST00000644399.1:c.3945_3948delinsCAGG
ENST00000645024.1:n.2108_2111delinsCAGG
ENST00000645186.1:c.267_270delinsCAGG
ENST00000646388.1:c.4024_4027delinsCAGG	ENSP00000495921.1:p.Gln1342=
ENST00000646634.1:n.2839_2842delinsCAGG
ENST00000646674.1:n.1276_1279delinsCAGG
ENST00000647042.1:n.1247_1250delinsCAGG
ENST00000647180.1:n.1137_1140delinsCAGG
ENST00000219476.7:c.4024_4027delinsCAGG	ENSP00000219476.3:p.Gln1342=
ENST00000350773.8:c.3955_3958delinsCAGG	ENSP00000344383.4:p.Gln1319=
ENST00000382538.10:c.3679_3682delinsCAGG	ENSP00000371978.6:p.Gln1227=
ENST00000401874.6:c.3823_3826delinsCAGG	ENSP00000384468.2:p.Gln1275=
ENST00000439117.6:c.*3191_*3194delinsCAGG	ENSP00000406980.2:n.*3191_*3194delinsCAGG...
ENST00000439673.6:c.3715_3718delinsCAGG	ENSP00000399232.2:p.Gln1239=
ENST00000497886.5:n.1782_1785delinsCAGG
ENST00000568454.5:c.3856_3859delinsCAGG	ENSP00000454487.1:p.Gln1286=
ENST00000569110.1:c.206_209delinsCAGG
ENST00000569930.1:n.1139_1142delinsCAGG
NM_000548.3:c.4024_4027delinsCAGG , LRG_487t1:c.4024_4027delinsCAGG	NP_000539.2:p.Gln1342=
NM_001077183.1:c.3823_3826delinsCAGG	NP_001070651.1:p.Gln1275=
NM_001114382.1:c.3955_3958delinsCAGG	NP_001107854.1:p.Gln1319=
XM_005255529.3:c.3895_3898delinsCAGG	XP_005255586.2:p.Gln1299=
XM_005255531.3:c.3826_3829delinsCAGG	XP_005255588.2:p.Gln1276=
XM_011522636.1:c.4078_4081delinsCAGG	XP_011520938.1:p.Gln1360=
XM_011522637.1:c.4075_4078delinsCAGG	XP_011520939.1:p.Gln1359=
XM_011522638.1:c.3967_3970delinsCAGG	XP_011520940.1:p.Gln1323=
XM_011522639.1:c.3949_3952delinsCAGG	XP_011520941.1:p.Gln1317=
XM_011522640.1:c.3946_3949delinsCAGG	XP_011520942.1:p.Gln1316=
XM_011522641.1:c.3715_3718delinsCAGG	XP_011520943.1:p.Gln1239=
NM_000548.4:c.4024_4027delinsCAGG	NP_000539.2:p.Gln1342=
NM_001077183.2:c.3823_3826delinsCAGG	NP_001070651.1:p.Gln1275=
NM_001114382.2:c.3955_3958delinsCAGG	NP_001107854.1:p.Gln1319=
NM_001318827.1:c.3715_3718delinsCAGG	NP_001305756.1:p.Gln1239=
NM_001318829.1:c.3679_3682delinsCAGG	NP_001305758.1:p.Gln1227=
NM_001318831.1:c.3292_3295delinsCAGG	NP_001305760.1:p.Gln1098=
NM_001318832.1:c.3856_3859delinsCAGG	NP_001305761.1:p.Gln1286=
NM_001363528.1:c.3826_3829delinsCAGG	NP_001350457.1:p.Gln1276=
NM_021055.2:c.3895_3898delinsCAGG	NP_066399.2:p.Gln1299=
XM_005255531.4:c.3826_3829delinsCAGG	XP_005255588.2:p.Gln1276=
XM_011522636.2:c.4078_4081delinsCAGG	XP_011520938.1:p.Gln1360=
XM_011522637.2:c.4075_4078delinsCAGG	XP_011520939.1:p.Gln1359=
XM_011522638.2:c.4240_4243delinsCAGG	XP_011520940.2:p.Gln1414=
XM_011522639.2:c.3949_3952delinsCAGG	XP_011520941.1:p.Gln1317=
XM_011522640.2:c.3946_3949delinsCAGG	XP_011520942.1:p.Gln1316=
XM_017023615.1:c.4021_4024delinsCAGG	XP_016879104.1:p.Gln1341=
XM_017023616.1:c.3892_3895delinsCAGG	XP_016879105.1:p.Gln1298=
XM_017023617.1:c.3988_3991delinsCAGG	XP_016879106.1:p.Gln1330=
XM_017023618.1:c.2734_2737delinsCAGG	XP_016879107.1:p.Gln912=
XM_024450413.1:c.3823_3826delinsCAGG	XP_024306181.1:p.Gln1275=
NM_000548.5:c.4024_4027delinsCAGG MANE Select	NP_000539.2:p.Gln1342=
NM_001370404.1:c.3892_3895delinsCAGG	NP_001357333.1:p.Gln1298=
NM_001370405.1:c.3895_3898delinsCAGG	NP_001357334.1:p.Gln1299=
NM_001077183.3:c.3823_3826delinsCAGG	NP_001070651.1:p.Gln1275=
NM_001114382.3:c.3955_3958delinsCAGG	NP_001107854.1:p.Gln1319=
NM_001318827.2:c.3715_3718delinsCAGG	NP_001305756.1:p.Gln1239=
NM_001318829.2:c.3679_3682delinsCAGG	NP_001305758.1:p.Gln1227=
NM_001318831.2:c.3292_3295delinsCAGG	NP_001305760.1:p.Gln1098=
NM_001318832.2:c.3856_3859delinsCAGG	NP_001305761.1:p.Gln1286=
NM_001363528.2:c.3826_3829delinsCAGG	NP_001350457.1:p.Gln1276=
NM_021055.3:c.3895_3898delinsCAGG	NP_066399.2:p.Gln1299=