Canonical Allele Identifier: CA2202024568
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086732_2086741delinsCCGTCTTCCA , CM000678.2:g.2086732_2086741delinsCCGTCTTCCA GRCh38
NC_000016.9:g.2136733_2136742delinsCCGTCTTCCA , CM000678.1:g.2136733_2136742delinsCCGTCTTCCA GRCh37
NC_000016.8:g.2076734_2076743delinsCCGTCTTCCA NCBI36
NG_005895.1:g.42427_42436delinsCCGTCTTCCA , LRG_487:g.42427_42436delinsCCGTCTTCCA
NG_008617.1:g.56480_56489delinsTGGAAGACGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3199_*3208delinsCCGTCTTCCA ENSP00000455997.2:n.*3199_*3208delinsCCGTCTTCCA
ENST00000642206.2:c.4697_4706delinsCCGTCTTCCA ENSP00000495146.2:p.Ala1566=
ENST00000642365.2:c.4847_4856delinsCCGTCTTCCA ENSP00000495459.2:p.Ala1616=
ENST00000644417.2:c.*5363_*5372delinsCCGTCTTCCA ENSP00000493912.2:n.*5363_*5372delinsCCGTCTTCCA
ENST00000646464.2:c.*7599_*7608delinsCCGTCTTCCA ENSP00000496610.2:n.*7599_*7608delinsCCGTCTTCCA
ENST00000219476.9:c.4850_4859delinsCCGTCTTCCA MANE Select ENSP00000219476.3:p.Ala1617=
ENST00000350773.9:c.4781_4790delinsCCGTCTTCCA ENSP00000344383.4:p.Ala1594=
ENST00000401874.7:c.4649_4658delinsCCGTCTTCCA ENSP00000384468.2:p.Ala1550=
ENST00000568454.6:c.4682_4691delinsCCGTCTTCCA ENSP00000454487.1:p.Ala1561=
ENST00000569110.2:c.1073_1082delinsCCGTCTTCCA
ENST00000569930.2:n.2732_2741delinsCCGTCTTCCA
ENST00000642365.1:c.3504_3513delinsCCGTCTTCCA
ENST00000642561.1:c.4721_4730delinsCCGTCTTCCA ENSP00000495099.1:p.Ala1574=
ENST00000642728.1:n.1032_1041delinsCCGTCTTCCA
ENST00000642791.1:n.447_456delinsCCGTCTTCCA
ENST00000642797.1:c.4652_4661delinsCCGTCTTCCA ENSP00000493846.1:p.Ala1551=
ENST00000642936.1:c.4718_4727delinsCCGTCTTCCA ENSP00000494514.1:p.Ala1573=
ENST00000643088.1:c.4643_4652delinsCCGTCTTCCA ENSP00000494747.1:p.Ala1548=
ENST00000643177.1:n.864_873delinsCCGTCTTCCA
ENST00000643426.1:n.2498_2507delinsCCGTCTTCCA
ENST00000643946.1:c.4775_4784delinsCCGTCTTCCA ENSP00000495927.1:p.Ala1592=
ENST00000644043.1:c.4721_4730delinsCCGTCTTCCA ENSP00000496262.1:p.Ala1574=
ENST00000644278.1:n.332_341delinsCCGTCTTCCA
ENST00000644329.1:c.4649_4658delinsCCGTCTTCCA ENSP00000496611.1:p.Ala1550=
ENST00000644335.1:c.4646_4655delinsCCGTCTTCCA ENSP00000496317.1:p.Ala1549=
ENST00000644399.1:c.4771_4780delinsCCGTCTTCCA
ENST00000645024.1:n.2934_2943delinsCCGTCTTCCA
ENST00000646388.1:c.4844_4853delinsCCGTCTTCCA ENSP00000495921.1:p.Ala1615=
ENST00000646557.1:n.11_20delinsCCGTCTTCCA
ENST00000646634.1:n.3665_3674delinsCCGTCTTCCA
ENST00000646674.1:n.2102_2111delinsCCGTCTTCCA
ENST00000647042.1:n.2073_2082delinsCCGTCTTCCA
ENST00000647180.1:n.1963_1972delinsCCGTCTTCCA
ENST00000219476.7:c.4850_4859delinsCCGTCTTCCA ENSP00000219476.3:p.Ala1617=
ENST00000350773.8:c.4781_4790delinsCCGTCTTCCA ENSP00000344383.4:p.Ala1594=
ENST00000382538.10:c.4505_4514delinsCCGTCTTCCA ENSP00000371978.6:p.Ala1502=
ENST00000401874.6:c.4649_4658delinsCCGTCTTCCA ENSP00000384468.2:p.Ala1550=
ENST00000439117.6:c.*4017_*4026delinsCCGTCTTCCA ENSP00000406980.2:n.*4017_*4026delinsCCGTCTTCCA
ENST00000439673.6:c.4541_4550delinsCCGTCTTCCA ENSP00000399232.2:p.Ala1514=
ENST00000497886.5:n.2608-35_2608-26delinsCCGTCTTCCA
ENST00000568454.5:c.4682_4691delinsCCGTCTTCCA ENSP00000454487.1:p.Ala1561=
ENST00000569110.1:c.1032_1041delinsCCGTCTTCCA
ENST00000569930.1:n.1965_1974delinsCCGTCTTCCA
NM_000548.3:c.4850_4859delinsCCGTCTTCCA , LRG_487t1:c.4850_4859delinsCCGTCTTCCA NP_000539.2:p.Ala1617=
NM_001077183.1:c.4649_4658delinsCCGTCTTCCA NP_001070651.1:p.Ala1550=
NM_001114382.1:c.4781_4790delinsCCGTCTTCCA NP_001107854.1:p.Ala1594=
XM_005255529.3:c.4721_4730delinsCCGTCTTCCA XP_005255586.2:p.Ala1574=
XM_005255531.3:c.4652_4661delinsCCGTCTTCCA XP_005255588.2:p.Ala1551=
XM_011522636.1:c.4904_4913delinsCCGTCTTCCA XP_011520938.1:p.Ala1635=
XM_011522637.1:c.4901_4910delinsCCGTCTTCCA XP_011520939.1:p.Ala1634=
XM_011522638.1:c.4793_4802delinsCCGTCTTCCA XP_011520940.1:p.Ala1598=
XM_011522639.1:c.4775_4784delinsCCGTCTTCCA XP_011520941.1:p.Ala1592=
XM_011522640.1:c.4772_4781delinsCCGTCTTCCA XP_011520942.1:p.Ala1591=
XM_011522641.1:c.4541_4550delinsCCGTCTTCCA XP_011520943.1:p.Ala1514=
NM_000548.4:c.4850_4859delinsCCGTCTTCCA NP_000539.2:p.Ala1617=
NM_001077183.2:c.4649_4658delinsCCGTCTTCCA NP_001070651.1:p.Ala1550=
NM_001114382.2:c.4781_4790delinsCCGTCTTCCA NP_001107854.1:p.Ala1594=
NM_001318827.1:c.4541_4550delinsCCGTCTTCCA NP_001305756.1:p.Ala1514=
NM_001318829.1:c.4505_4514delinsCCGTCTTCCA NP_001305758.1:p.Ala1502=
NM_001318831.1:c.4118_4127delinsCCGTCTTCCA NP_001305760.1:p.Ala1373=
NM_001318832.1:c.4682_4691delinsCCGTCTTCCA NP_001305761.1:p.Ala1561=
NM_001363528.1:c.4652_4661delinsCCGTCTTCCA NP_001350457.1:p.Ala1551=
NM_021055.2:c.4721_4730delinsCCGTCTTCCA NP_066399.2:p.Ala1574=
XM_005255531.4:c.4652_4661delinsCCGTCTTCCA XP_005255588.2:p.Ala1551=
XM_011522636.2:c.4904_4913delinsCCGTCTTCCA XP_011520938.1:p.Ala1635=
XM_011522637.2:c.4901_4910delinsCCGTCTTCCA XP_011520939.1:p.Ala1634=
XM_011522638.2:c.5066_5075delinsCCGTCTTCCA XP_011520940.2:p.Ala1689=
XM_011522639.2:c.4775_4784delinsCCGTCTTCCA XP_011520941.1:p.Ala1592=
XM_011522640.2:c.4772_4781delinsCCGTCTTCCA XP_011520942.1:p.Ala1591=
XM_017023615.1:c.4847_4856delinsCCGTCTTCCA XP_016879104.1:p.Ala1616=
XM_017023616.1:c.4718_4727delinsCCGTCTTCCA XP_016879105.1:p.Ala1573=
XM_017023617.1:c.4814_4823delinsCCGTCTTCCA XP_016879106.1:p.Ala1605=
XM_017023618.1:c.3560_3569delinsCCGTCTTCCA XP_016879107.1:p.Ala1187=
XM_024450413.1:c.4649_4658delinsCCGTCTTCCA XP_024306181.1:p.Ala1550=
NM_000548.5:c.4850_4859delinsCCGTCTTCCA MANE Select NP_000539.2:p.Ala1617=
NM_001370404.1:c.4718_4727delinsCCGTCTTCCA NP_001357333.1:p.Ala1573=
NM_001370405.1:c.4721_4730delinsCCGTCTTCCA NP_001357334.1:p.Ala1574=
NM_001077183.3:c.4649_4658delinsCCGTCTTCCA NP_001070651.1:p.Ala1550=
NM_001114382.3:c.4781_4790delinsCCGTCTTCCA NP_001107854.1:p.Ala1594=
NM_001318827.2:c.4541_4550delinsCCGTCTTCCA NP_001305756.1:p.Ala1514=
NM_001318829.2:c.4505_4514delinsCCGTCTTCCA NP_001305758.1:p.Ala1502=
NM_001318831.2:c.4118_4127delinsCCGTCTTCCA NP_001305760.1:p.Ala1373=
NM_001318832.2:c.4682_4691delinsCCGTCTTCCA NP_001305761.1:p.Ala1561=
NM_001363528.2:c.4652_4661delinsCCGTCTTCCA NP_001350457.1:p.Ala1551=
NM_021055.3:c.4721_4730delinsCCGTCTTCCA NP_066399.2:p.Ala1574=