Canonical Allele Identifier: CA2742038388

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.[2085212_2085224del;2085227_2085228dup] , CM000678.2:g.[2085212_2085224del;2085227_2085228dup]	GRCh38
NC_000016.9:g.[2135213_2135225del;2135228_2135229dup] , CM000678.1:g.[2135213_2135225del;2135228_2135229dup]	GRCh37
NC_000016.8:g.[2075214_2075226del;2075229_2075230dup]	NCBI36
NG_005895.1:g.[40907_40919del;40922_40923dup] , LRG_487:g.[40907_40919del;40922_40923dup]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.[*2919-18_*2919-6del;*2919-3_*2919-2dup]	ENSP00000455997.2:n.[*2919-18_*2919-6del;*2919-3_*2919-2dup]
ENST00000642206.2:c.[4417-18_4417-6del;4417-3_4417-2dup]	ENSP00000495146.2:n.[4417-18_4417-6del;4417-3_4417-2dup]
ENST00000642365.2:c.[4567-18_4567-6del;4567-3_4567-2dup]	ENSP00000495459.2:n.[4567-18_4567-6del;4567-3_4567-2dup]
ENST00000644417.2:c.[*4950-18_*4950-6del;*4950-3_*4950-2dup]	ENSP00000493912.2:n.[*4950-18_*4950-6del;*4950-3_*4950-2dup]
ENST00000646464.2:c.[*7319-18_*7319-6del;*7319-3_*7319-2dup]	ENSP00000496610.2:n.[*7319-18_*7319-6del;*7319-3_*7319-2dup]
ENST00000219476.9:c.[4570-18_4570-6del;4570-3_4570-2dup] MANE Select	ENSP00000219476.3:n.[4570-18_4570-6del;4570-3_4570-2dup]
ENST00000350773.9:c.[4501-18_4501-6del;4501-3_4501-2dup]	ENSP00000344383.4:n.[4501-18_4501-6del;4501-3_4501-2dup]
ENST00000401874.7:c.[4369-18_4369-6del;4369-3_4369-2dup]	ENSP00000384468.2:n.[4369-18_4369-6del;4369-3_4369-2dup]
ENST00000568454.6:c.[4402-18_4402-6del;4402-3_4402-2dup]	ENSP00000454487.1:n.[4402-18_4402-6del;4402-3_4402-2dup]
ENST00000569110.2:c.[793-18_793-6del;793-3_793-2dup]
ENST00000569930.2:n.[2452-18_2452-6del;2452-3_2452-2dup]
ENST00000642365.1:c.[3224-18_3224-6del;3224-3_3224-2dup]
ENST00000642561.1:c.[4441-18_4441-6del;4441-3_4441-2dup]	ENSP00000495099.1:n.[4441-18_4441-6del;4441-3_4441-2dup]
ENST00000642728.1:n.[752-18_752-6del;752-3_752-2dup]
ENST00000642791.1:n.[149_161del;164_165dup]
ENST00000642797.1:c.[4372-18_4372-6del;4372-3_4372-2dup]	ENSP00000493846.1:n.[4372-18_4372-6del;4372-3_4372-2dup]
ENST00000642936.1:c.[4438-18_4438-6del;4438-3_4438-2dup]	ENSP00000494514.1:n.[4438-18_4438-6del;4438-3_4438-2dup]
ENST00000643088.1:c.[4369-24_4369-12del;4369-9_4369-8dup]	ENSP00000494747.1:n.[4369-24_4369-12del;4369-9_4369-8dup]
ENST00000643177.1:n.[584-18_584-6del;584-3_584-2dup]
ENST00000643426.1:n.[2218-18_2218-6del;2218-3_2218-2dup]
ENST00000643946.1:c.[4501-24_4501-12del;4501-9_4501-8dup]	ENSP00000495927.1:n.[4501-24_4501-12del;4501-9_4501-8dup]
ENST00000644043.1:c.[4441-18_4441-6del;4441-3_4441-2dup]	ENSP00000496262.1:n.[4441-18_4441-6del;4441-3_4441-2dup]
ENST00000644278.1:n.[34_46del;49_50dup]
ENST00000644329.1:c.[4369-18_4369-6del;4369-3_4369-2dup]	ENSP00000496611.1:n.[4369-18_4369-6del;4369-3_4369-2dup]
ENST00000644335.1:c.[4372-24_4372-12del;4372-9_4372-8dup]	ENSP00000496317.1:n.[4372-24_4372-12del;4372-9_4372-8dup]
ENST00000644399.1:c.[4491-18_4491-6del;4491-3_4491-2dup]
ENST00000645024.1:n.[2654-18_2654-6del;2654-3_2654-2dup]
ENST00000646388.1:c.[4570-24_4570-12del;4570-9_4570-8dup]	ENSP00000495921.1:n.[4570-24_4570-12del;4570-9_4570-8dup]
ENST00000646634.1:n.[3385-18_3385-6del;3385-3_3385-2dup]
ENST00000646674.1:n.[1822-18_1822-6del;1822-3_1822-2dup]
ENST00000647042.1:n.[1793-18_1793-6del;1793-3_1793-2dup]
ENST00000647180.1:n.[1683-18_1683-6del;1683-3_1683-2dup]
ENST00000219476.7:c.[4570-18_4570-6del;4570-3_4570-2dup]	ENSP00000219476.3:n.[4570-18_4570-6del;4570-3_4570-2dup]
ENST00000350773.8:c.[4501-18_4501-6del;4501-3_4501-2dup]	ENSP00000344383.4:n.[4501-18_4501-6del;4501-3_4501-2dup]
ENST00000382538.10:c.[4225-18_4225-6del;4225-3_4225-2dup]	ENSP00000371978.6:n.[4225-18_4225-6del;4225-3_4225-2dup]
ENST00000401874.6:c.[4369-18_4369-6del;4369-3_4369-2dup]	ENSP00000384468.2:n.[4369-18_4369-6del;4369-3_4369-2dup]
ENST00000439117.6:c.[*3737-18_*3737-6del;*3737-3_*3737-2dup]	ENSP00000406980.2:n.[*3737-18_*3737-6del;*3737-3_*3737-2dup]
ENST00000439673.6:c.[4261-18_4261-6del;4261-3_4261-2dup]	ENSP00000399232.2:n.[4261-18_4261-6del;4261-3_4261-2dup]
ENST00000497886.5:n.[2328-18_2328-6del;2328-3_2328-2dup]
ENST00000568454.5:c.[4402-18_4402-6del;4402-3_4402-2dup]	ENSP00000454487.1:n.[4402-18_4402-6del;4402-3_4402-2dup]
ENST00000569110.1:c.[752-18_752-6del;752-3_752-2dup]
ENST00000569930.1:n.[1685-18_1685-6del;1685-3_1685-2dup]
NM_000548.3:c.[4570-18_4570-6del;4570-3_4570-2dup] , LRG_487t1:c.[4570-18_4570-6del;4570-3_4570-2dup]	NP_000539.2:n.[4570-18_4570-6del;4570-3_4570-2dup]
NM_001077183.1:c.[4369-18_4369-6del;4369-3_4369-2dup]	NP_001070651.1:n.[4369-18_4369-6del;4369-3_4369-2dup]
NM_001114382.1:c.[4501-18_4501-6del;4501-3_4501-2dup]	NP_001107854.1:n.[4501-18_4501-6del;4501-3_4501-2dup]
XM_005255529.3:c.[4441-18_4441-6del;4441-3_4441-2dup]	XP_005255586.2:n.[4441-18_4441-6del;4441-3_4441-2dup]
XM_005255531.3:c.[4372-18_4372-6del;4372-3_4372-2dup]	XP_005255588.2:n.[4372-18_4372-6del;4372-3_4372-2dup]
XM_011522636.1:c.[4624-18_4624-6del;4624-3_4624-2dup]	XP_011520938.1:n.[4624-18_4624-6del;4624-3_4624-2dup]
XM_011522637.1:c.[4621-18_4621-6del;4621-3_4621-2dup]	XP_011520939.1:n.[4621-18_4621-6del;4621-3_4621-2dup]
XM_011522638.1:c.[4513-18_4513-6del;4513-3_4513-2dup]	XP_011520940.1:n.[4513-18_4513-6del;4513-3_4513-2dup]
XM_011522639.1:c.[4495-18_4495-6del;4495-3_4495-2dup]	XP_011520941.1:n.[4495-18_4495-6del;4495-3_4495-2dup]
XM_011522640.1:c.[4492-18_4492-6del;4492-3_4492-2dup]	XP_011520942.1:n.[4492-18_4492-6del;4492-3_4492-2dup]
XM_011522641.1:c.[4261-18_4261-6del;4261-3_4261-2dup]	XP_011520943.1:n.[4261-18_4261-6del;4261-3_4261-2dup]
NM_000548.4:c.[4570-18_4570-6del;4570-3_4570-2dup]	NP_000539.2:n.[4570-18_4570-6del;4570-3_4570-2dup]
NM_001077183.2:c.[4369-18_4369-6del;4369-3_4369-2dup]	NP_001070651.1:n.[4369-18_4369-6del;4369-3_4369-2dup]
NM_001114382.2:c.[4501-18_4501-6del;4501-3_4501-2dup]	NP_001107854.1:n.[4501-18_4501-6del;4501-3_4501-2dup]
NM_001318827.1:c.[4261-18_4261-6del;4261-3_4261-2dup]	NP_001305756.1:n.[4261-18_4261-6del;4261-3_4261-2dup]
NM_001318829.1:c.[4225-18_4225-6del;4225-3_4225-2dup]	NP_001305758.1:n.[4225-18_4225-6del;4225-3_4225-2dup]
NM_001318831.1:c.[3838-18_3838-6del;3838-3_3838-2dup]	NP_001305760.1:n.[3838-18_3838-6del;3838-3_3838-2dup]
NM_001318832.1:c.[4402-18_4402-6del;4402-3_4402-2dup]	NP_001305761.1:n.[4402-18_4402-6del;4402-3_4402-2dup]
NM_001363528.1:c.[4372-18_4372-6del;4372-3_4372-2dup]	NP_001350457.1:n.[4372-18_4372-6del;4372-3_4372-2dup]
NM_021055.2:c.[4441-18_4441-6del;4441-3_4441-2dup]	NP_066399.2:n.[4441-18_4441-6del;4441-3_4441-2dup]
XM_005255531.4:c.[4372-18_4372-6del;4372-3_4372-2dup]	XP_005255588.2:n.[4372-18_4372-6del;4372-3_4372-2dup]
XM_011522636.2:c.[4624-18_4624-6del;4624-3_4624-2dup]	XP_011520938.1:n.[4624-18_4624-6del;4624-3_4624-2dup]
XM_011522637.2:c.[4621-18_4621-6del;4621-3_4621-2dup]	XP_011520939.1:n.[4621-18_4621-6del;4621-3_4621-2dup]
XM_011522638.2:c.[4786-18_4786-6del;4786-3_4786-2dup]	XP_011520940.2:n.[4786-18_4786-6del;4786-3_4786-2dup]
XM_011522639.2:c.[4495-18_4495-6del;4495-3_4495-2dup]	XP_011520941.1:n.[4495-18_4495-6del;4495-3_4495-2dup]
XM_011522640.2:c.[4492-18_4492-6del;4492-3_4492-2dup]	XP_011520942.1:n.[4492-18_4492-6del;4492-3_4492-2dup]
XM_017023615.1:c.[4567-18_4567-6del;4567-3_4567-2dup]	XP_016879104.1:n.[4567-18_4567-6del;4567-3_4567-2dup]
XM_017023616.1:c.[4438-18_4438-6del;4438-3_4438-2dup]	XP_016879105.1:n.[4438-18_4438-6del;4438-3_4438-2dup]
XM_017023617.1:c.[4534-18_4534-6del;4534-3_4534-2dup]	XP_016879106.1:n.[4534-18_4534-6del;4534-3_4534-2dup]
XM_017023618.1:c.[3280-18_3280-6del;3280-3_3280-2dup]	XP_016879107.1:n.[3280-18_3280-6del;3280-3_3280-2dup]
XM_024450413.1:c.[4369-18_4369-6del;4369-3_4369-2dup]	XP_024306181.1:n.[4369-18_4369-6del;4369-3_4369-2dup]
NM_000548.5:c.[4570-18_4570-6del;4570-3_4570-2dup] MANE Select	NP_000539.2:n.[4570-18_4570-6del;4570-3_4570-2dup]
NM_001370404.1:c.[4438-18_4438-6del;4438-3_4438-2dup]	NP_001357333.1:n.[4438-18_4438-6del;4438-3_4438-2dup]
NM_001370405.1:c.[4441-18_4441-6del;4441-3_4441-2dup]	NP_001357334.1:n.[4441-18_4441-6del;4441-3_4441-2dup]
NM_001077183.3:c.[4369-18_4369-6del;4369-3_4369-2dup]	NP_001070651.1:n.[4369-18_4369-6del;4369-3_4369-2dup]
NM_001114382.3:c.[4501-18_4501-6del;4501-3_4501-2dup]	NP_001107854.1:n.[4501-18_4501-6del;4501-3_4501-2dup]
NM_001318827.2:c.[4261-18_4261-6del;4261-3_4261-2dup]	NP_001305756.1:n.[4261-18_4261-6del;4261-3_4261-2dup]
NM_001318829.2:c.[4225-18_4225-6del;4225-3_4225-2dup]	NP_001305758.1:n.[4225-18_4225-6del;4225-3_4225-2dup]
NM_001318831.2:c.[3838-18_3838-6del;3838-3_3838-2dup]	NP_001305760.1:n.[3838-18_3838-6del;3838-3_3838-2dup]
NM_001318832.2:c.[4402-18_4402-6del;4402-3_4402-2dup]	NP_001305761.1:n.[4402-18_4402-6del;4402-3_4402-2dup]
NM_001363528.2:c.[4372-18_4372-6del;4372-3_4372-2dup]	NP_001350457.1:n.[4372-18_4372-6del;4372-3_4372-2dup]
NM_021055.3:c.[4441-18_4441-6del;4441-3_4441-2dup]	NP_066399.2:n.[4441-18_4441-6del;4441-3_4441-2dup]