Canonical Allele Identifier: CA2202018986
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085224_2085226delinsCCA , CM000678.2:g.2085224_2085226delinsCCA GRCh38
NC_000016.9:g.2135225_2135227delinsCCA , CM000678.1:g.2135225_2135227delinsCCA GRCh37
NC_000016.8:g.2075226_2075228delinsCCA NCBI36
NG_005895.1:g.40919_40921delinsCCA , LRG_487:g.40919_40921delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2919-6_*2919-4delinsCCA ENSP00000455997.2:n.*2919-6_*2919-4delinsCCA
ENST00000642206.2:c.4417-6_4417-4delinsCCA ENSP00000495146.2:n.4417-6_4417-4delinsCCA
ENST00000642365.2:c.4567-6_4567-4delinsCCA ENSP00000495459.2:n.4567-6_4567-4delinsCCA
ENST00000644417.2:c.*4950-6_*4950-4delinsCCA ENSP00000493912.2:n.*4950-6_*4950-4delinsCCA
ENST00000646464.2:c.*7319-6_*7319-4delinsCCA ENSP00000496610.2:n.*7319-6_*7319-4delinsCCA
ENST00000219476.9:c.4570-6_4570-4delinsCCA MANE Select ENSP00000219476.3:n.4570-6_4570-4delinsCCA
ENST00000350773.9:c.4501-6_4501-4delinsCCA ENSP00000344383.4:n.4501-6_4501-4delinsCCA
ENST00000401874.7:c.4369-6_4369-4delinsCCA ENSP00000384468.2:n.4369-6_4369-4delinsCCA
ENST00000568454.6:c.4402-6_4402-4delinsCCA ENSP00000454487.1:n.4402-6_4402-4delinsCCA
ENST00000569110.2:c.793-6_793-4delinsCCA
ENST00000569930.2:n.2452-6_2452-4delinsCCA
ENST00000642365.1:c.3224-6_3224-4delinsCCA
ENST00000642561.1:c.4441-6_4441-4delinsCCA ENSP00000495099.1:n.4441-6_4441-4delinsCCA
ENST00000642728.1:n.752-6_752-4delinsCCA
ENST00000642791.1:n.161_163delinsCCA
ENST00000642797.1:c.4372-6_4372-4delinsCCA ENSP00000493846.1:n.4372-6_4372-4delinsCCA
ENST00000642936.1:c.4438-6_4438-4delinsCCA ENSP00000494514.1:n.4438-6_4438-4delinsCCA
ENST00000643088.1:c.4369-12_4369-10delinsCCA ENSP00000494747.1:n.4369-12_4369-10delinsCCA
ENST00000643177.1:n.584-6_584-4delinsCCA
ENST00000643426.1:n.2218-6_2218-4delinsCCA
ENST00000643946.1:c.4501-12_4501-10delinsCCA ENSP00000495927.1:n.4501-12_4501-10delinsCCA
ENST00000644043.1:c.4441-6_4441-4delinsCCA ENSP00000496262.1:n.4441-6_4441-4delinsCCA
ENST00000644278.1:n.46_48delinsCCA
ENST00000644329.1:c.4369-6_4369-4delinsCCA ENSP00000496611.1:n.4369-6_4369-4delinsCCA
ENST00000644335.1:c.4372-12_4372-10delinsCCA ENSP00000496317.1:n.4372-12_4372-10delinsCCA
ENST00000644399.1:c.4491-6_4491-4delinsCCA
ENST00000645024.1:n.2654-6_2654-4delinsCCA
ENST00000646388.1:c.4570-12_4570-10delinsCCA ENSP00000495921.1:n.4570-12_4570-10delinsCCA
ENST00000646634.1:n.3385-6_3385-4delinsCCA
ENST00000646674.1:n.1822-6_1822-4delinsCCA
ENST00000647042.1:n.1793-6_1793-4delinsCCA
ENST00000647180.1:n.1683-6_1683-4delinsCCA
ENST00000219476.7:c.4570-6_4570-4delinsCCA ENSP00000219476.3:n.4570-6_4570-4delinsCCA
ENST00000350773.8:c.4501-6_4501-4delinsCCA ENSP00000344383.4:n.4501-6_4501-4delinsCCA
ENST00000382538.10:c.4225-6_4225-4delinsCCA ENSP00000371978.6:n.4225-6_4225-4delinsCCA
ENST00000401874.6:c.4369-6_4369-4delinsCCA ENSP00000384468.2:n.4369-6_4369-4delinsCCA
ENST00000439117.6:c.*3737-6_*3737-4delinsCCA ENSP00000406980.2:n.*3737-6_*3737-4delinsCCA
ENST00000439673.6:c.4261-6_4261-4delinsCCA ENSP00000399232.2:n.4261-6_4261-4delinsCCA
ENST00000497886.5:n.2328-6_2328-4delinsCCA
ENST00000568454.5:c.4402-6_4402-4delinsCCA ENSP00000454487.1:n.4402-6_4402-4delinsCCA
ENST00000569110.1:c.752-6_752-4delinsCCA
ENST00000569930.1:n.1685-6_1685-4delinsCCA
NM_000548.3:c.4570-6_4570-4delinsCCA , LRG_487t1:c.4570-6_4570-4delinsCCA NP_000539.2:n.4570-6_4570-4delinsCCA
NM_001077183.1:c.4369-6_4369-4delinsCCA NP_001070651.1:n.4369-6_4369-4delinsCCA
NM_001114382.1:c.4501-6_4501-4delinsCCA NP_001107854.1:n.4501-6_4501-4delinsCCA
XM_005255529.3:c.4441-6_4441-4delinsCCA XP_005255586.2:n.4441-6_4441-4delinsCCA
XM_005255531.3:c.4372-6_4372-4delinsCCA XP_005255588.2:n.4372-6_4372-4delinsCCA
XM_011522636.1:c.4624-6_4624-4delinsCCA XP_011520938.1:n.4624-6_4624-4delinsCCA
XM_011522637.1:c.4621-6_4621-4delinsCCA XP_011520939.1:n.4621-6_4621-4delinsCCA
XM_011522638.1:c.4513-6_4513-4delinsCCA XP_011520940.1:n.4513-6_4513-4delinsCCA
XM_011522639.1:c.4495-6_4495-4delinsCCA XP_011520941.1:n.4495-6_4495-4delinsCCA
XM_011522640.1:c.4492-6_4492-4delinsCCA XP_011520942.1:n.4492-6_4492-4delinsCCA
XM_011522641.1:c.4261-6_4261-4delinsCCA XP_011520943.1:n.4261-6_4261-4delinsCCA
NM_000548.4:c.4570-6_4570-4delinsCCA NP_000539.2:n.4570-6_4570-4delinsCCA
NM_001077183.2:c.4369-6_4369-4delinsCCA NP_001070651.1:n.4369-6_4369-4delinsCCA
NM_001114382.2:c.4501-6_4501-4delinsCCA NP_001107854.1:n.4501-6_4501-4delinsCCA
NM_001318827.1:c.4261-6_4261-4delinsCCA NP_001305756.1:n.4261-6_4261-4delinsCCA
NM_001318829.1:c.4225-6_4225-4delinsCCA NP_001305758.1:n.4225-6_4225-4delinsCCA
NM_001318831.1:c.3838-6_3838-4delinsCCA NP_001305760.1:n.3838-6_3838-4delinsCCA
NM_001318832.1:c.4402-6_4402-4delinsCCA NP_001305761.1:n.4402-6_4402-4delinsCCA
NM_001363528.1:c.4372-6_4372-4delinsCCA NP_001350457.1:n.4372-6_4372-4delinsCCA
NM_021055.2:c.4441-6_4441-4delinsCCA NP_066399.2:n.4441-6_4441-4delinsCCA
XM_005255531.4:c.4372-6_4372-4delinsCCA XP_005255588.2:n.4372-6_4372-4delinsCCA
XM_011522636.2:c.4624-6_4624-4delinsCCA XP_011520938.1:n.4624-6_4624-4delinsCCA
XM_011522637.2:c.4621-6_4621-4delinsCCA XP_011520939.1:n.4621-6_4621-4delinsCCA
XM_011522638.2:c.4786-6_4786-4delinsCCA XP_011520940.2:n.4786-6_4786-4delinsCCA
XM_011522639.2:c.4495-6_4495-4delinsCCA XP_011520941.1:n.4495-6_4495-4delinsCCA
XM_011522640.2:c.4492-6_4492-4delinsCCA XP_011520942.1:n.4492-6_4492-4delinsCCA
XM_017023615.1:c.4567-6_4567-4delinsCCA XP_016879104.1:n.4567-6_4567-4delinsCCA
XM_017023616.1:c.4438-6_4438-4delinsCCA XP_016879105.1:n.4438-6_4438-4delinsCCA
XM_017023617.1:c.4534-6_4534-4delinsCCA XP_016879106.1:n.4534-6_4534-4delinsCCA
XM_017023618.1:c.3280-6_3280-4delinsCCA XP_016879107.1:n.3280-6_3280-4delinsCCA
XM_024450413.1:c.4369-6_4369-4delinsCCA XP_024306181.1:n.4369-6_4369-4delinsCCA
NM_000548.5:c.4570-6_4570-4delinsCCA MANE Select NP_000539.2:n.4570-6_4570-4delinsCCA
NM_001370404.1:c.4438-6_4438-4delinsCCA NP_001357333.1:n.4438-6_4438-4delinsCCA
NM_001370405.1:c.4441-6_4441-4delinsCCA NP_001357334.1:n.4441-6_4441-4delinsCCA
NM_001077183.3:c.4369-6_4369-4delinsCCA NP_001070651.1:n.4369-6_4369-4delinsCCA
NM_001114382.3:c.4501-6_4501-4delinsCCA NP_001107854.1:n.4501-6_4501-4delinsCCA
NM_001318827.2:c.4261-6_4261-4delinsCCA NP_001305756.1:n.4261-6_4261-4delinsCCA
NM_001318829.2:c.4225-6_4225-4delinsCCA NP_001305758.1:n.4225-6_4225-4delinsCCA
NM_001318831.2:c.3838-6_3838-4delinsCCA NP_001305760.1:n.3838-6_3838-4delinsCCA
NM_001318832.2:c.4402-6_4402-4delinsCCA NP_001305761.1:n.4402-6_4402-4delinsCCA
NM_001363528.2:c.4372-6_4372-4delinsCCA NP_001350457.1:n.4372-6_4372-4delinsCCA
NM_021055.3:c.4441-6_4441-4delinsCCA NP_066399.2:n.4441-6_4441-4delinsCCA
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