Canonical Allele Identifier: CA2202039477
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081959_2081960delinsAC , CM000678.2:g.2081959_2081960delinsAC GRCh38
NC_000016.9:g.2131960_2131961delinsAC , CM000678.1:g.2131960_2131961delinsAC GRCh37
NC_000016.8:g.2071961_2071962delinsAC NCBI36
NG_005895.1:g.37654_37655delinsAC , LRG_487:g.37654_37655delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2232+161_*2232+162delinsAC ENSP00000455997.2:n.*2232+161_*2232+162delinsAC
ENST00000642206.2:c.3730+161_3730+162delinsAC ENSP00000495146.2:n.3730+161_3730+162delinsAC
ENST00000642365.2:c.3811+161_3811+162delinsAC ENSP00000495459.2:n.3811+161_3811+162delinsAC
ENST00000644417.2:c.*4263+161_*4263+162delinsAC ENSP00000493912.2:n.*4263+161_*4263+162delinsAC
ENST00000646464.2:c.*4897_*4898delinsAC ENSP00000496610.2:n.*4897_*4898delinsAC
ENST00000219476.9:c.3814+161_3814+162delinsAC MANE Select ENSP00000219476.3:n.3814+161_3814+162delinsAC
ENST00000350773.9:c.3814+161_3814+162delinsAC ENSP00000344383.4:n.3814+161_3814+162delinsAC
ENST00000401874.7:c.3682+161_3682+162delinsAC ENSP00000384468.2:n.3682+161_3682+162delinsAC
ENST00000568454.6:c.3715+161_3715+162delinsAC ENSP00000454487.1:n.3715+161_3715+162delinsAC
ENST00000569930.2:n.30_31delinsAC
ENST00000642365.1:c.2468+161_2468+162delinsAC
ENST00000642561.1:c.3685+161_3685+162delinsAC ENSP00000495099.1:n.3685+161_3685+162delinsAC
ENST00000642797.1:c.3685+161_3685+162delinsAC ENSP00000493846.1:n.3685+161_3685+162delinsAC
ENST00000642936.1:c.3682+161_3682+162delinsAC ENSP00000494514.1:n.3682+161_3682+162delinsAC
ENST00000643088.1:c.3682+161_3682+162delinsAC ENSP00000494747.1:n.3682+161_3682+162delinsAC
ENST00000643426.1:n.1462+161_1462+162delinsAC
ENST00000643533.1:n.324+161_324+162delinsAC
ENST00000643946.1:c.3814+161_3814+162delinsAC ENSP00000495927.1:n.3814+161_3814+162delinsAC
ENST00000644043.1:c.3685+161_3685+162delinsAC ENSP00000496262.1:n.3685+161_3685+162delinsAC
ENST00000644329.1:c.3682+161_3682+162delinsAC ENSP00000496611.1:n.3682+161_3682+162delinsAC
ENST00000644335.1:c.3685+161_3685+162delinsAC ENSP00000496317.1:n.3685+161_3685+162delinsAC
ENST00000644399.1:c.3804+161_3804+162delinsAC
ENST00000644722.1:n.960+161_960+162delinsAC
ENST00000645024.1:n.1967+161_1967+162delinsAC
ENST00000646388.1:c.3814+161_3814+162delinsAC ENSP00000495921.1:n.3814+161_3814+162delinsAC
ENST00000646634.1:n.2698+161_2698+162delinsAC
ENST00000646674.1:n.590_591delinsAC
ENST00000647042.1:n.1106+161_1106+162delinsAC
ENST00000647180.1:n.455_456delinsAC
ENST00000219476.7:c.3814+161_3814+162delinsAC ENSP00000219476.3:n.3814+161_3814+162delinsAC
ENST00000350773.8:c.3814+161_3814+162delinsAC ENSP00000344383.4:n.3814+161_3814+162delinsAC
ENST00000382538.10:c.3538+161_3538+162delinsAC ENSP00000371978.6:n.3538+161_3538+162delinsAC
ENST00000401874.6:c.3682+161_3682+162delinsAC ENSP00000384468.2:n.3682+161_3682+162delinsAC
ENST00000439117.6:c.*2981+161_*2981+162delinsAC ENSP00000406980.2:n.*2981+161_*2981+162delinsAC
ENST00000439673.6:c.3574+161_3574+162delinsAC ENSP00000399232.2:n.3574+161_3574+162delinsAC
ENST00000497886.5:n.1641+161_1641+162delinsAC
ENST00000568454.5:c.3715+161_3715+162delinsAC ENSP00000454487.1:n.3715+161_3715+162delinsAC
NM_000548.3:c.3814+161_3814+162delinsAC , LRG_487t1:c.3814+161_3814+162delinsAC NP_000539.2:n.3814+161_3814+162delinsAC
NM_001077183.1:c.3682+161_3682+162delinsAC NP_001070651.1:n.3682+161_3682+162delinsAC
NM_001114382.1:c.3814+161_3814+162delinsAC NP_001107854.1:n.3814+161_3814+162delinsAC
XM_005255529.3:c.3685+161_3685+162delinsAC XP_005255586.2:n.3685+161_3685+162delinsAC
XM_005255531.3:c.3685+161_3685+162delinsAC XP_005255588.2:n.3685+161_3685+162delinsAC
XM_011522636.1:c.3814+161_3814+162delinsAC XP_011520938.1:n.3814+161_3814+162delinsAC
XM_011522637.1:c.3811+161_3811+162delinsAC XP_011520939.1:n.3811+161_3811+162delinsAC
XM_011522638.1:c.3703+161_3703+162delinsAC XP_011520940.1:n.3703+161_3703+162delinsAC
XM_011522639.1:c.3685+161_3685+162delinsAC XP_011520941.1:n.3685+161_3685+162delinsAC
XM_011522640.1:c.3682+161_3682+162delinsAC XP_011520942.1:n.3682+161_3682+162delinsAC
XM_011522641.1:c.3574+161_3574+162delinsAC XP_011520943.1:n.3574+161_3574+162delinsAC
NM_000548.4:c.3814+161_3814+162delinsAC NP_000539.2:n.3814+161_3814+162delinsAC
NM_001077183.2:c.3682+161_3682+162delinsAC NP_001070651.1:n.3682+161_3682+162delinsAC
NM_001114382.2:c.3814+161_3814+162delinsAC NP_001107854.1:n.3814+161_3814+162delinsAC
NM_001318827.1:c.3574+161_3574+162delinsAC NP_001305756.1:n.3574+161_3574+162delinsAC
NM_001318829.1:c.3538+161_3538+162delinsAC NP_001305758.1:n.3538+161_3538+162delinsAC
NM_001318831.1:c.3082+161_3082+162delinsAC NP_001305760.1:n.3082+161_3082+162delinsAC
NM_001318832.1:c.3715+161_3715+162delinsAC NP_001305761.1:n.3715+161_3715+162delinsAC
NM_001363528.1:c.3685+161_3685+162delinsAC NP_001350457.1:n.3685+161_3685+162delinsAC
NM_021055.2:c.3685+161_3685+162delinsAC NP_066399.2:n.3685+161_3685+162delinsAC
XM_005255531.4:c.3685+161_3685+162delinsAC XP_005255588.2:n.3685+161_3685+162delinsAC
XM_011522636.2:c.3814+161_3814+162delinsAC XP_011520938.1:n.3814+161_3814+162delinsAC
XM_011522637.2:c.3811+161_3811+162delinsAC XP_011520939.1:n.3811+161_3811+162delinsAC
XM_011522638.2:c.3976+161_3976+162delinsAC XP_011520940.2:n.3976+161_3976+162delinsAC
XM_011522639.2:c.3685+161_3685+162delinsAC XP_011520941.1:n.3685+161_3685+162delinsAC
XM_011522640.2:c.3682+161_3682+162delinsAC XP_011520942.1:n.3682+161_3682+162delinsAC
XM_017023615.1:c.3811+161_3811+162delinsAC XP_016879104.1:n.3811+161_3811+162delinsAC
XM_017023616.1:c.3682+161_3682+162delinsAC XP_016879105.1:n.3682+161_3682+162delinsAC
XM_017023617.1:c.3847+161_3847+162delinsAC XP_016879106.1:n.3847+161_3847+162delinsAC
XM_017023618.1:c.2470+161_2470+162delinsAC XP_016879107.1:n.2470+161_2470+162delinsAC
XM_024450413.1:c.3682+161_3682+162delinsAC XP_024306181.1:n.3682+161_3682+162delinsAC
NM_000548.5:c.3814+161_3814+162delinsAC MANE Select NP_000539.2:n.3814+161_3814+162delinsAC
NM_001370404.1:c.3682+161_3682+162delinsAC NP_001357333.1:n.3682+161_3682+162delinsAC
NM_001370405.1:c.3685+161_3685+162delinsAC NP_001357334.1:n.3685+161_3685+162delinsAC
NM_001077183.3:c.3682+161_3682+162delinsAC NP_001070651.1:n.3682+161_3682+162delinsAC
NM_001114382.3:c.3814+161_3814+162delinsAC NP_001107854.1:n.3814+161_3814+162delinsAC
NM_001318827.2:c.3574+161_3574+162delinsAC NP_001305756.1:n.3574+161_3574+162delinsAC
NM_001318829.2:c.3538+161_3538+162delinsAC NP_001305758.1:n.3538+161_3538+162delinsAC
NM_001318831.2:c.3082+161_3082+162delinsAC NP_001305760.1:n.3082+161_3082+162delinsAC
NM_001318832.2:c.3715+161_3715+162delinsAC NP_001305761.1:n.3715+161_3715+162delinsAC
NM_001363528.2:c.3685+161_3685+162delinsAC NP_001350457.1:n.3685+161_3685+162delinsAC
NM_021055.3:c.3685+161_3685+162delinsAC NP_066399.2:n.3685+161_3685+162delinsAC
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