Canonical Allele Identifier: CA2695221970

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079278_2079280delinsTTTT , CM000678.2:g.2079278_2079280delinsTTTT	GRCh38
NC_000016.9:g.2129279_2129281delinsTTTT , CM000678.1:g.2129279_2129281delinsTTTT	GRCh37
NC_000016.8:g.2069280_2069282delinsTTTT	NCBI36
NG_005895.1:g.34973_34975delinsTTTT , LRG_487:g.34973_34975delinsTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1552_*1554delinsTTTT	ENSP00000455997.2:n.*1552_*1554delinsTTTT
ENST00000642206.2:c.3050_3052delinsTTTT	ENSP00000495146.2:p.Ser1017PhefsTer?
ENST00000642365.2:c.3131_3133delinsTTTT	ENSP00000495459.2:p.Ser1044PhefsTer?
ENST00000644417.2:c.*3583_*3585delinsTTTT	ENSP00000493912.2:n.*3583_*3585delinsTTTT
ENST00000646464.2:c.*4056_*4058delinsTTTT	ENSP00000496610.2:n.*4056_*4058delinsTTTT
ENST00000219476.9:c.3134_3136delinsTTTT MANE Select	ENSP00000219476.3:p.Ser1045PhefsTer?
ENST00000350773.9:c.3134_3136delinsTTTT	ENSP00000344383.4:p.Ser1045PhefsTer?
ENST00000401874.7:c.3002_3004delinsTTTT	ENSP00000384468.2:p.Ser1001PhefsTer?
ENST00000471143.6:c.362_364delinsTTTT	ENSP00000458541.2:n.362_364delinsTTTT
ENST00000568366.6:n.491_493delinsTTTT
ENST00000568454.6:c.3035_3037delinsTTTT	ENSP00000454487.1:p.Ser1012PhefsTer?
ENST00000642365.1:c.1788_1790delinsTTTT
ENST00000642561.1:c.3005_3007delinsTTTT	ENSP00000495099.1:p.Ser1002PhefsTer?
ENST00000642797.1:c.3005_3007delinsTTTT	ENSP00000493846.1:p.Ser1002PhefsTer?
ENST00000642936.1:c.3002_3004delinsTTTT	ENSP00000494514.1:p.Ser1001PhefsTer?
ENST00000643088.1:c.3002_3004delinsTTTT	ENSP00000494747.1:p.Ser1001PhefsTer?
ENST00000643946.1:c.3134_3136delinsTTTT	ENSP00000495927.1:p.Ser1045PhefsTer?
ENST00000644043.1:c.3005_3007delinsTTTT	ENSP00000496262.1:p.Ser1002PhefsTer?
ENST00000644329.1:c.3002_3004delinsTTTT	ENSP00000496611.1:p.Ser1001PhefsTer?
ENST00000644335.1:c.3005_3007delinsTTTT	ENSP00000496317.1:p.Ser1002PhefsTer?
ENST00000644399.1:c.3124_3126delinsTTTT
ENST00000644722.1:n.280_282delinsTTTT
ENST00000645024.1:n.1287_1289delinsTTTT
ENST00000646388.1:c.3134_3136delinsTTTT	ENSP00000495921.1:p.Ser1045PhefsTer?
ENST00000646634.1:n.2018_2020delinsTTTT
ENST00000647042.1:n.426_428delinsTTTT
ENST00000219476.7:c.3134_3136delinsTTTT	ENSP00000219476.3:p.Ser1045PhefsTer?
ENST00000350773.8:c.3134_3136delinsTTTT	ENSP00000344383.4:p.Ser1045PhefsTer?
ENST00000382538.10:c.2858_2860delinsTTTT	ENSP00000371978.6:p.Ser953PhefsTer?
ENST00000401874.6:c.3002_3004delinsTTTT	ENSP00000384468.2:p.Ser1001PhefsTer?
ENST00000439117.6:c.*2301_*2303delinsTTTT	ENSP00000406980.2:n.*2301_*2303delinsTTTT
ENST00000439673.6:c.2894_2896delinsTTTT	ENSP00000399232.2:p.Ser965PhefsTer?
ENST00000471143.5:c.360_362delinsTTTT
ENST00000483020.5:c.374_376delinsTTTT	ENSP00000460310.1:n.374_376delinsTTTT
ENST00000497886.5:n.961_963delinsTTTT
ENST00000561695.1:n.359_361delinsTTTT
ENST00000568366.5:n.491_493delinsTTTT
ENST00000568454.5:c.3035_3037delinsTTTT	ENSP00000454487.1:p.Ser1012PhefsTer?
NM_000548.3:c.3134_3136delinsTTTT , LRG_487t1:c.3134_3136delinsTTTT	NP_000539.2:p.Ser1045PhefsTer?
NM_001077183.1:c.3002_3004delinsTTTT	NP_001070651.1:p.Ser1001PhefsTer?
NM_001114382.1:c.3134_3136delinsTTTT	NP_001107854.1:p.Ser1045PhefsTer?
XM_005255529.3:c.3005_3007delinsTTTT	XP_005255586.2:p.Ser1002PhefsTer?
XM_005255531.3:c.3005_3007delinsTTTT	XP_005255588.2:p.Ser1002PhefsTer?
XM_011522636.1:c.3134_3136delinsTTTT	XP_011520938.1:p.Ser1045PhefsTer?
XM_011522637.1:c.3131_3133delinsTTTT	XP_011520939.1:p.Ser1044PhefsTer?
XM_011522638.1:c.3023_3025delinsTTTT	XP_011520940.1:p.Ser1008PhefsTer?
XM_011522639.1:c.3005_3007delinsTTTT	XP_011520941.1:p.Ser1002PhefsTer?
XM_011522640.1:c.3002_3004delinsTTTT	XP_011520942.1:p.Ser1001PhefsTer?
XM_011522641.1:c.2894_2896delinsTTTT	XP_011520943.1:p.Ser965PhefsTer?
NM_000548.4:c.3134_3136delinsTTTT	NP_000539.2:p.Ser1045PhefsTer?
NM_001077183.2:c.3002_3004delinsTTTT	NP_001070651.1:p.Ser1001PhefsTer?
NM_001114382.2:c.3134_3136delinsTTTT	NP_001107854.1:p.Ser1045PhefsTer?
NM_001318827.1:c.2894_2896delinsTTTT	NP_001305756.1:p.Ser965PhefsTer?
NM_001318829.1:c.2858_2860delinsTTTT	NP_001305758.1:p.Ser953PhefsTer?
NM_001318831.1:c.2402_2404delinsTTTT	NP_001305760.1:p.Ser801PhefsTer?
NM_001318832.1:c.3035_3037delinsTTTT	NP_001305761.1:p.Ser1012PhefsTer?
NM_001363528.1:c.3005_3007delinsTTTT	NP_001350457.1:p.Ser1002PhefsTer?
NM_021055.2:c.3005_3007delinsTTTT	NP_066399.2:p.Ser1002PhefsTer?
XM_005255531.4:c.3005_3007delinsTTTT	XP_005255588.2:p.Ser1002PhefsTer?
XM_011522636.2:c.3134_3136delinsTTTT	XP_011520938.1:p.Ser1045PhefsTer?
XM_011522637.2:c.3131_3133delinsTTTT	XP_011520939.1:p.Ser1044PhefsTer?
XM_011522638.2:c.3296_3298delinsTTTT	XP_011520940.2:p.Ser1099PhefsTer?
XM_011522639.2:c.3005_3007delinsTTTT	XP_011520941.1:p.Ser1002PhefsTer?
XM_011522640.2:c.3002_3004delinsTTTT	XP_011520942.1:p.Ser1001PhefsTer?
XM_017023615.1:c.3131_3133delinsTTTT	XP_016879104.1:p.Ser1044PhefsTer?
XM_017023616.1:c.3002_3004delinsTTTT	XP_016879105.1:p.Ser1001PhefsTer?
XM_017023617.1:c.3167_3169delinsTTTT	XP_016879106.1:p.Ser1056PhefsTer?
XM_017023618.1:c.1790_1792delinsTTTT	XP_016879107.1:p.Ser597PhefsTer?
XM_024450413.1:c.3002_3004delinsTTTT	XP_024306181.1:p.Ser1001PhefsTer?
NM_000548.5:c.3134_3136delinsTTTT MANE Select	NP_000539.2:p.Ser1045PhefsTer?
NM_001370404.1:c.3002_3004delinsTTTT	NP_001357333.1:p.Ser1001PhefsTer?
NM_001370405.1:c.3005_3007delinsTTTT	NP_001357334.1:p.Ser1002PhefsTer?
NM_001077183.3:c.3002_3004delinsTTTT	NP_001070651.1:p.Ser1001PhefsTer?
NM_001114382.3:c.3134_3136delinsTTTT	NP_001107854.1:p.Ser1045PhefsTer?
NM_001318827.2:c.2894_2896delinsTTTT	NP_001305756.1:p.Ser965PhefsTer?
NM_001318829.2:c.2858_2860delinsTTTT	NP_001305758.1:p.Ser953PhefsTer?
NM_001318831.2:c.2402_2404delinsTTTT	NP_001305760.1:p.Ser801PhefsTer?
NM_001318832.2:c.3035_3037delinsTTTT	NP_001305761.1:p.Ser1012PhefsTer?
NM_001363528.2:c.3005_3007delinsTTTT	NP_001350457.1:p.Ser1002PhefsTer?
NM_021055.3:c.3005_3007delinsTTTT	NP_066399.2:p.Ser1002PhefsTer?