Canonical Allele Identifier: CA2202037839

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081603_2081608delinsAGCTGG , CM000678.2:g.2081603_2081608delinsAGCTGG	GRCh38
NC_000016.9:g.2131604_2131609delinsAGCTGG , CM000678.1:g.2131604_2131609delinsAGCTGG	GRCh37
NC_000016.8:g.2071605_2071610delinsAGCTGG	NCBI36
NG_005895.1:g.37298_37303delinsAGCTGG , LRG_487:g.37298_37303delinsAGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2037_*2042delinsAGCTGG	ENSP00000455997.2:n.*2037_*2042delinsAGCTGG
ENST00000642206.2:c.3535_3540delinsAGCTGG	ENSP00000495146.2:p.Ser1179=
ENST00000642365.2:c.3616_3621delinsAGCTGG	ENSP00000495459.2:p.Ser1206=
ENST00000644417.2:c.*4068_*4073delinsAGCTGG	ENSP00000493912.2:n.*4068_*4073delinsAGCTGG
ENST00000646464.2:c.*4541_*4546delinsAGCTGG	ENSP00000496610.2:n.*4541_*4546delinsAGCTGG
ENST00000219476.9:c.3619_3624delinsAGCTGG MANE Select	ENSP00000219476.3:p.Ser1207=
ENST00000350773.9:c.3619_3624delinsAGCTGG	ENSP00000344383.4:p.Ser1207=
ENST00000401874.7:c.3487_3492delinsAGCTGG	ENSP00000384468.2:p.Ser1163=
ENST00000568454.6:c.3520_3525delinsAGCTGG	ENSP00000454487.1:p.Ser1174=
ENST00000642365.1:c.2273_2278delinsAGCTGG
ENST00000642561.1:c.3490_3495delinsAGCTGG	ENSP00000495099.1:p.Ser1164=
ENST00000642797.1:c.3490_3495delinsAGCTGG	ENSP00000493846.1:p.Ser1164=
ENST00000642936.1:c.3487_3492delinsAGCTGG	ENSP00000494514.1:p.Ser1163=
ENST00000643088.1:c.3487_3492delinsAGCTGG	ENSP00000494747.1:p.Ser1163=
ENST00000643426.1:n.1267_1272delinsAGCTGG
ENST00000643533.1:n.129_134delinsAGCTGG
ENST00000643946.1:c.3619_3624delinsAGCTGG	ENSP00000495927.1:p.Ser1207=
ENST00000644043.1:c.3490_3495delinsAGCTGG	ENSP00000496262.1:p.Ser1164=
ENST00000644329.1:c.3487_3492delinsAGCTGG	ENSP00000496611.1:p.Ser1163=
ENST00000644335.1:c.3490_3495delinsAGCTGG	ENSP00000496317.1:p.Ser1164=
ENST00000644399.1:c.3609_3614delinsAGCTGG
ENST00000644722.1:n.765_770delinsAGCTGG
ENST00000645024.1:n.1772_1777delinsAGCTGG
ENST00000646388.1:c.3619_3624delinsAGCTGG	ENSP00000495921.1:p.Ser1207=
ENST00000646634.1:n.2503_2508delinsAGCTGG
ENST00000646674.1:n.234_239delinsAGCTGG
ENST00000647042.1:n.911_916delinsAGCTGG
ENST00000647180.1:n.99_104delinsAGCTGG
ENST00000219476.7:c.3619_3624delinsAGCTGG	ENSP00000219476.3:p.Ser1207=
ENST00000350773.8:c.3619_3624delinsAGCTGG	ENSP00000344383.4:p.Ser1207=
ENST00000382538.10:c.3343_3348delinsAGCTGG	ENSP00000371978.6:p.Ser1115=
ENST00000401874.6:c.3487_3492delinsAGCTGG	ENSP00000384468.2:p.Ser1163=
ENST00000439117.6:c.*2786_*2791delinsAGCTGG	ENSP00000406980.2:n.*2786_*2791delinsAGCTGG
ENST00000439673.6:c.3379_3384delinsAGCTGG	ENSP00000399232.2:p.Ser1127=
ENST00000497886.5:n.1446_1451delinsAGCTGG
ENST00000568454.5:c.3520_3525delinsAGCTGG	ENSP00000454487.1:p.Ser1174=
NM_000548.3:c.3619_3624delinsAGCTGG , LRG_487t1:c.3619_3624delinsAGCTGG	NP_000539.2:p.Ser1207=
NM_001077183.1:c.3487_3492delinsAGCTGG	NP_001070651.1:p.Ser1163=
NM_001114382.1:c.3619_3624delinsAGCTGG	NP_001107854.1:p.Ser1207=
XM_005255529.3:c.3490_3495delinsAGCTGG	XP_005255586.2:p.Ser1164=
XM_005255531.3:c.3490_3495delinsAGCTGG	XP_005255588.2:p.Ser1164=
XM_011522636.1:c.3619_3624delinsAGCTGG	XP_011520938.1:p.Ser1207=
XM_011522637.1:c.3616_3621delinsAGCTGG	XP_011520939.1:p.Ser1206=
XM_011522638.1:c.3508_3513delinsAGCTGG	XP_011520940.1:p.Ser1170=
XM_011522639.1:c.3490_3495delinsAGCTGG	XP_011520941.1:p.Ser1164=
XM_011522640.1:c.3487_3492delinsAGCTGG	XP_011520942.1:p.Ser1163=
XM_011522641.1:c.3379_3384delinsAGCTGG	XP_011520943.1:p.Ser1127=
NM_000548.4:c.3619_3624delinsAGCTGG	NP_000539.2:p.Ser1207=
NM_001077183.2:c.3487_3492delinsAGCTGG	NP_001070651.1:p.Ser1163=
NM_001114382.2:c.3619_3624delinsAGCTGG	NP_001107854.1:p.Ser1207=
NM_001318827.1:c.3379_3384delinsAGCTGG	NP_001305756.1:p.Ser1127=
NM_001318829.1:c.3343_3348delinsAGCTGG	NP_001305758.1:p.Ser1115=
NM_001318831.1:c.2887_2892delinsAGCTGG	NP_001305760.1:p.Ser963=
NM_001318832.1:c.3520_3525delinsAGCTGG	NP_001305761.1:p.Ser1174=
NM_001363528.1:c.3490_3495delinsAGCTGG	NP_001350457.1:p.Ser1164=
NM_021055.2:c.3490_3495delinsAGCTGG	NP_066399.2:p.Ser1164=
XM_005255531.4:c.3490_3495delinsAGCTGG	XP_005255588.2:p.Ser1164=
XM_011522636.2:c.3619_3624delinsAGCTGG	XP_011520938.1:p.Ser1207=
XM_011522637.2:c.3616_3621delinsAGCTGG	XP_011520939.1:p.Ser1206=
XM_011522638.2:c.3781_3786delinsAGCTGG	XP_011520940.2:p.Ser1261=
XM_011522639.2:c.3490_3495delinsAGCTGG	XP_011520941.1:p.Ser1164=
XM_011522640.2:c.3487_3492delinsAGCTGG	XP_011520942.1:p.Ser1163=
XM_017023615.1:c.3616_3621delinsAGCTGG	XP_016879104.1:p.Ser1206=
XM_017023616.1:c.3487_3492delinsAGCTGG	XP_016879105.1:p.Ser1163=
XM_017023617.1:c.3652_3657delinsAGCTGG	XP_016879106.1:p.Ser1218=
XM_017023618.1:c.2275_2280delinsAGCTGG	XP_016879107.1:p.Ser759=
XM_024450413.1:c.3487_3492delinsAGCTGG	XP_024306181.1:p.Ser1163=
NM_000548.5:c.3619_3624delinsAGCTGG MANE Select	NP_000539.2:p.Ser1207=
NM_001370404.1:c.3487_3492delinsAGCTGG	NP_001357333.1:p.Ser1163=
NM_001370405.1:c.3490_3495delinsAGCTGG	NP_001357334.1:p.Ser1164=
NM_001077183.3:c.3487_3492delinsAGCTGG	NP_001070651.1:p.Ser1163=
NM_001114382.3:c.3619_3624delinsAGCTGG	NP_001107854.1:p.Ser1207=
NM_001318827.2:c.3379_3384delinsAGCTGG	NP_001305756.1:p.Ser1127=
NM_001318829.2:c.3343_3348delinsAGCTGG	NP_001305758.1:p.Ser1115=
NM_001318831.2:c.2887_2892delinsAGCTGG	NP_001305760.1:p.Ser963=
NM_001318832.2:c.3520_3525delinsAGCTGG	NP_001305761.1:p.Ser1174=
NM_001363528.2:c.3490_3495delinsAGCTGG	NP_001350457.1:p.Ser1164=
NM_021055.3:c.3490_3495delinsAGCTGG	NP_066399.2:p.Ser1164=