Canonical Allele Identifier: CA2202033074

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088411_2088419delinsCCCAGACTT , CM000678.2:g.2088411_2088419delinsCCCAGACTT	GRCh38
NC_000016.9:g.2138412_2138420delinsCCCAGACTT , CM000678.1:g.2138412_2138420delinsCCCAGACTT	GRCh37
NC_000016.8:g.2078413_2078421delinsCCCAGACTT	NCBI36
NG_005895.1:g.44106_44114delinsCCCAGACTT , LRG_487:g.44106_44114delinsCCCAGACTT
NG_008617.1:g.54802_54810delinsAAGTCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3609-35_*3609-27delinsCCCAGACTT	ENSP00000455997.2:n.*3609-35_*3609-27delinsCCCAGACTT
ENST00000642206.2:c.5107-35_5107-27delinsCCCAGACTT	ENSP00000495146.2:n.5107-35_5107-27delinsCCCAGACTT
ENST00000642365.2:c.5257-35_5257-27delinsCCCAGACTT	ENSP00000495459.2:n.5257-35_5257-27delinsCCCAGACTT
ENST00000644417.2:c.*5773-35_*5773-27delinsCCCAGACTT	ENSP00000493912.2:n.*5773-35_*5773-27delinsCCCAGACTT
ENST00000646464.2:c.*8009-35_*8009-27delinsCCCAGACTT	ENSP00000496610.2:n.*8009-35_*8009-27delinsCCCAGACTT
ENST00000219476.9:c.5260-35_5260-27delinsCCCAGACTT MANE Select	ENSP00000219476.3:n.5260-35_5260-27delinsCCCAGACTT
ENST00000350773.9:c.5191-35_5191-27delinsCCCAGACTT	ENSP00000344383.4:n.5191-35_5191-27delinsCCCAGACTT
ENST00000401874.7:c.5059-35_5059-27delinsCCCAGACTT	ENSP00000384468.2:n.5059-35_5059-27delinsCCCAGACTT
ENST00000568454.6:c.5092-35_5092-27delinsCCCAGACTT	ENSP00000454487.1:n.5092-35_5092-27delinsCCCAGACTT
ENST00000569110.2:c.1483-35_1483-27delinsCCCAGACTT
ENST00000569930.2:n.3142-35_3142-27delinsCCCAGACTT
ENST00000642365.1:c.3914-35_3914-27delinsCCCAGACTT
ENST00000642561.1:c.5119-35_5119-27delinsCCCAGACTT	ENSP00000495099.1:n.5119-35_5119-27delinsCCCAGACTT
ENST00000642791.1:n.857-35_857-27delinsCCCAGACTT
ENST00000642797.1:c.5062-35_5062-27delinsCCCAGACTT	ENSP00000493846.1:n.5062-35_5062-27delinsCCCAGACTT
ENST00000642936.1:c.5128-35_5128-27delinsCCCAGACTT	ENSP00000494514.1:n.5128-35_5128-27delinsCCCAGACTT
ENST00000643088.1:c.5053-35_5053-27delinsCCCAGACTT	ENSP00000494747.1:n.5053-35_5053-27delinsCCCAGACTT
ENST00000643426.1:n.2908-35_2908-27delinsCCCAGACTT
ENST00000643946.1:c.5185-35_5185-27delinsCCCAGACTT	ENSP00000495927.1:n.5185-35_5185-27delinsCCCAGACTT
ENST00000644043.1:c.5131-35_5131-27delinsCCCAGACTT	ENSP00000496262.1:n.5131-35_5131-27delinsCCCAGACTT
ENST00000644329.1:c.5146-35_5146-27delinsCCCAGACTT	ENSP00000496611.1:n.5146-35_5146-27delinsCCCAGACTT
ENST00000644335.1:c.5056-35_5056-27delinsCCCAGACTT	ENSP00000496317.1:n.5056-35_5056-27delinsCCCAGACTT
ENST00000644399.1:c.5181-35_5181-27delinsCCCAGACTT
ENST00000645024.1:n.3344-35_3344-27delinsCCCAGACTT
ENST00000646388.1:c.5254-35_5254-27delinsCCCAGACTT	ENSP00000495921.1:n.5254-35_5254-27delinsCCCAGACTT
ENST00000646634.1:n.4075-35_4075-27delinsCCCAGACTT
ENST00000646674.1:n.2512-35_2512-27delinsCCCAGACTT
ENST00000647042.1:n.2483-35_2483-27delinsCCCAGACTT
ENST00000647180.1:n.2373-35_2373-27delinsCCCAGACTT
ENST00000219476.7:c.5260-35_5260-27delinsCCCAGACTT	ENSP00000219476.3:n.5260-35_5260-27delinsCCCAGACTT
ENST00000350773.8:c.5191-35_5191-27delinsCCCAGACTT	ENSP00000344383.4:n.5191-35_5191-27delinsCCCAGACTT
ENST00000382538.10:c.4915-35_4915-27delinsCCCAGACTT	ENSP00000371978.6:n.4915-35_4915-27delinsCCCAGACTT
ENST00000401874.6:c.5059-35_5059-27delinsCCCAGACTT	ENSP00000384468.2:n.5059-35_5059-27delinsCCCAGACTT
ENST00000439117.6:c.*4427-35_*4427-27delinsCCCAGACTT	ENSP00000406980.2:n.*4427-35_*4427-27delinsCCCAGACTT
ENST00000439673.6:c.4951-35_4951-27delinsCCCAGACTT	ENSP00000399232.2:n.4951-35_4951-27delinsCCCAGACTT
ENST00000497886.5:n.2983-35_2983-27delinsCCCAGACTT
ENST00000568454.5:c.5092-35_5092-27delinsCCCAGACTT	ENSP00000454487.1:n.5092-35_5092-27delinsCCCAGACTT
ENST00000569110.1:c.1442-35_1442-27delinsCCCAGACTT
ENST00000569930.1:n.2375-35_2375-27delinsCCCAGACTT
NM_000548.3:c.5260-35_5260-27delinsCCCAGACTT , LRG_487t1:c.5260-35_5260-27delinsCCCAGACTT	NP_000539.2:n.5260-35_5260-27delinsCCCAGACTT
NM_001077183.1:c.5059-35_5059-27delinsCCCAGACTT	NP_001070651.1:n.5059-35_5059-27delinsCCCAGACTT
NM_001114382.1:c.5191-35_5191-27delinsCCCAGACTT	NP_001107854.1:n.5191-35_5191-27delinsCCCAGACTT
XM_005255529.3:c.5131-35_5131-27delinsCCCAGACTT	XP_005255586.2:n.5131-35_5131-27delinsCCCAGACTT
XM_005255531.3:c.5062-35_5062-27delinsCCCAGACTT	XP_005255588.2:n.5062-35_5062-27delinsCCCAGACTT
XM_011522636.1:c.5314-35_5314-27delinsCCCAGACTT	XP_011520938.1:n.5314-35_5314-27delinsCCCAGACTT
XM_011522637.1:c.5311-35_5311-27delinsCCCAGACTT	XP_011520939.1:n.5311-35_5311-27delinsCCCAGACTT
XM_011522638.1:c.5203-35_5203-27delinsCCCAGACTT	XP_011520940.1:n.5203-35_5203-27delinsCCCAGACTT
XM_011522639.1:c.5185-35_5185-27delinsCCCAGACTT	XP_011520941.1:n.5185-35_5185-27delinsCCCAGACTT
XM_011522640.1:c.5182-35_5182-27delinsCCCAGACTT	XP_011520942.1:n.5182-35_5182-27delinsCCCAGACTT
XM_011522641.1:c.4951-35_4951-27delinsCCCAGACTT	XP_011520943.1:n.4951-35_4951-27delinsCCCAGACTT
NM_000548.4:c.5260-35_5260-27delinsCCCAGACTT	NP_000539.2:n.5260-35_5260-27delinsCCCAGACTT
NM_001077183.2:c.5059-35_5059-27delinsCCCAGACTT	NP_001070651.1:n.5059-35_5059-27delinsCCCAGACTT
NM_001114382.2:c.5191-35_5191-27delinsCCCAGACTT	NP_001107854.1:n.5191-35_5191-27delinsCCCAGACTT
NM_001318827.1:c.4951-35_4951-27delinsCCCAGACTT	NP_001305756.1:n.4951-35_4951-27delinsCCCAGACTT
NM_001318829.1:c.4915-35_4915-27delinsCCCAGACTT	NP_001305758.1:n.4915-35_4915-27delinsCCCAGACTT
NM_001318831.1:c.4528-35_4528-27delinsCCCAGACTT	NP_001305760.1:n.4528-35_4528-27delinsCCCAGACTT
NM_001318832.1:c.5092-35_5092-27delinsCCCAGACTT	NP_001305761.1:n.5092-35_5092-27delinsCCCAGACTT
NM_001363528.1:c.5062-35_5062-27delinsCCCAGACTT	NP_001350457.1:n.5062-35_5062-27delinsCCCAGACTT
NM_021055.2:c.5131-35_5131-27delinsCCCAGACTT	NP_066399.2:n.5131-35_5131-27delinsCCCAGACTT
XM_005255531.4:c.5062-35_5062-27delinsCCCAGACTT	XP_005255588.2:n.5062-35_5062-27delinsCCCAGACTT
XM_011522636.2:c.5314-35_5314-27delinsCCCAGACTT	XP_011520938.1:n.5314-35_5314-27delinsCCCAGACTT
XM_011522637.2:c.5311-35_5311-27delinsCCCAGACTT	XP_011520939.1:n.5311-35_5311-27delinsCCCAGACTT
XM_011522638.2:c.5476-35_5476-27delinsCCCAGACTT	XP_011520940.2:n.5476-35_5476-27delinsCCCAGACTT
XM_011522639.2:c.5185-35_5185-27delinsCCCAGACTT	XP_011520941.1:n.5185-35_5185-27delinsCCCAGACTT
XM_011522640.2:c.5182-35_5182-27delinsCCCAGACTT	XP_011520942.1:n.5182-35_5182-27delinsCCCAGACTT
XM_017023615.1:c.5257-35_5257-27delinsCCCAGACTT	XP_016879104.1:n.5257-35_5257-27delinsCCCAGACTT
XM_017023616.1:c.5128-35_5128-27delinsCCCAGACTT	XP_016879105.1:n.5128-35_5128-27delinsCCCAGACTT
XM_017023617.1:c.5224-35_5224-27delinsCCCAGACTT	XP_016879106.1:n.5224-35_5224-27delinsCCCAGACTT
XM_017023618.1:c.3970-35_3970-27delinsCCCAGACTT	XP_016879107.1:n.3970-35_3970-27delinsCCCAGACTT
XM_024450413.1:c.5146-35_5146-27delinsCCCAGACTT	XP_024306181.1:n.5146-35_5146-27delinsCCCAGACTT
NM_000548.5:c.5260-35_5260-27delinsCCCAGACTT MANE Select	NP_000539.2:n.5260-35_5260-27delinsCCCAGACTT
NM_001370404.1:c.5128-35_5128-27delinsCCCAGACTT	NP_001357333.1:n.5128-35_5128-27delinsCCCAGACTT
NM_001370405.1:c.5119-35_5119-27delinsCCCAGACTT	NP_001357334.1:n.5119-35_5119-27delinsCCCAGACTT
NM_001077183.3:c.5059-35_5059-27delinsCCCAGACTT	NP_001070651.1:n.5059-35_5059-27delinsCCCAGACTT
NM_001114382.3:c.5191-35_5191-27delinsCCCAGACTT	NP_001107854.1:n.5191-35_5191-27delinsCCCAGACTT
NM_001318827.2:c.4951-35_4951-27delinsCCCAGACTT	NP_001305756.1:n.4951-35_4951-27delinsCCCAGACTT
NM_001318829.2:c.4915-35_4915-27delinsCCCAGACTT	NP_001305758.1:n.4915-35_4915-27delinsCCCAGACTT
NM_001318831.2:c.4528-35_4528-27delinsCCCAGACTT	NP_001305760.1:n.4528-35_4528-27delinsCCCAGACTT
NM_001318832.2:c.5092-35_5092-27delinsCCCAGACTT	NP_001305761.1:n.5092-35_5092-27delinsCCCAGACTT
NM_001363528.2:c.5062-35_5062-27delinsCCCAGACTT	NP_001350457.1:n.5062-35_5062-27delinsCCCAGACTT
NM_021055.3:c.5131-35_5131-27delinsCCCAGACTT	NP_066399.2:n.5131-35_5131-27delinsCCCAGACTT