Canonical Allele Identifier: CA16615180
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086833_2086839del , CM000678.2:g.2086833_2086839del GRCh38
NC_000016.9:g.2136834_2136840del , CM000678.1:g.2136834_2136840del GRCh37
NC_000016.8:g.2076835_2076841del NCBI36
NG_005895.1:g.42528_42534del , LRG_487:g.42528_42534del
NG_008617.1:g.56382_56388del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3300_*3306del ENSP00000455997.2:n.*3300_*3306del
ENST00000642206.2:c.4798_4804del ENSP00000495146.2:p.Asn1600ProfsTer19
ENST00000642365.2:c.4948_4954del ENSP00000495459.2:p.Asn1650ProfsTer19
ENST00000644417.2:c.*5464_*5470del ENSP00000493912.2:n.*5464_*5470del
ENST00000646464.2:c.*7700_*7706del ENSP00000496610.2:n.*7700_*7706del
ENST00000219476.9:c.4951_4957del MANE Select ENSP00000219476.3:p.Asn1651ProfsTer19
ENST00000350773.9:c.4882_4888del ENSP00000344383.4:p.Asn1628ProfsTer19
ENST00000401874.7:c.4750_4756del ENSP00000384468.2:p.Asn1584ProfsTer19
ENST00000568454.6:c.4783_4789del ENSP00000454487.1:p.Asn1595ProfsTer19
ENST00000569110.2:c.1174_1180del
ENST00000569930.2:n.2833_2839del
ENST00000642365.1:c.3605_3611del
ENST00000642561.1:c.4822_4828del ENSP00000495099.1:p.Asn1608ProfsTer19
ENST00000642728.1:n.1133_1139del
ENST00000642791.1:n.548_554del
ENST00000642797.1:c.4753_4759del ENSP00000493846.1:p.Asn1585ProfsTer19
ENST00000642936.1:c.4819_4825del ENSP00000494514.1:p.Asn1607ProfsTer19
ENST00000643088.1:c.4744_4750del ENSP00000494747.1:p.Asn1582ProfsTer19
ENST00000643177.1:n.965_971del
ENST00000643426.1:n.2599_2605del
ENST00000643946.1:c.4876_4882del ENSP00000495927.1:p.Asn1626ProfsTer19
ENST00000644043.1:c.4822_4828del ENSP00000496262.1:p.Asn1608ProfsTer19
ENST00000644278.1:n.433_439del
ENST00000644329.1:c.4750_4756del ENSP00000496611.1:p.Asn1584ProfsTer19
ENST00000644335.1:c.4747_4753del ENSP00000496317.1:p.Asn1583ProfsTer19
ENST00000644399.1:c.4872_4878del
ENST00000645024.1:n.3035_3041del
ENST00000646388.1:c.4945_4951del ENSP00000495921.1:p.Asn1649ProfsTer19
ENST00000646557.1:n.112_118del
ENST00000646634.1:n.3766_3772del
ENST00000646674.1:n.2203_2209del
ENST00000647042.1:n.2174_2180del
ENST00000647180.1:n.2064_2070del
ENST00000219476.7:c.4951_4957del ENSP00000219476.3:p.Asn1651ProfsTer19
ENST00000350773.8:c.4882_4888del ENSP00000344383.4:p.Asn1628ProfsTer19
ENST00000382538.10:c.4606_4612del ENSP00000371978.6:p.Asn1536ProfsTer19
ENST00000401874.6:c.4750_4756del ENSP00000384468.2:p.Asn1584ProfsTer19
ENST00000439117.6:c.*4118_*4124del ENSP00000406980.2:n.*4118_*4124del
ENST00000439673.6:c.4642_4648del ENSP00000399232.2:p.Asn1548ProfsTer19
ENST00000497886.5:n.2674_2680del
ENST00000568454.5:c.4783_4789del ENSP00000454487.1:p.Asn1595ProfsTer19
ENST00000569110.1:c.1133_1139del
ENST00000569930.1:n.2066_2072del
NM_000548.3:c.4951_4957del , LRG_487t1:c.4951_4957del NP_000539.2:p.Asn1651ProfsTer19
NM_001077183.1:c.4750_4756del NP_001070651.1:p.Asn1584ProfsTer19
NM_001114382.1:c.4882_4888del NP_001107854.1:p.Asn1628ProfsTer19
XM_005255529.3:c.4822_4828del XP_005255586.2:p.Asn1608ProfsTer19
XM_005255531.3:c.4753_4759del XP_005255588.2:p.Asn1585ProfsTer19
XM_011522636.1:c.5005_5011del XP_011520938.1:p.Asn1669ProfsTer19
XM_011522637.1:c.5002_5008del XP_011520939.1:p.Asn1668ProfsTer19
XM_011522638.1:c.4894_4900del XP_011520940.1:p.Asn1632ProfsTer19
XM_011522639.1:c.4876_4882del XP_011520941.1:p.Asn1626ProfsTer19
XM_011522640.1:c.4873_4879del XP_011520942.1:p.Asn1625ProfsTer19
XM_011522641.1:c.4642_4648del XP_011520943.1:p.Asn1548ProfsTer19
NM_000548.4:c.4951_4957del NP_000539.2:p.Asn1651ProfsTer19
NM_001077183.2:c.4750_4756del NP_001070651.1:p.Asn1584ProfsTer19
NM_001114382.2:c.4882_4888del NP_001107854.1:p.Asn1628ProfsTer19
NM_001318827.1:c.4642_4648del NP_001305756.1:p.Asn1548ProfsTer19
NM_001318829.1:c.4606_4612del NP_001305758.1:p.Asn1536ProfsTer19
NM_001318831.1:c.4219_4225del NP_001305760.1:p.Asn1407ProfsTer19
NM_001318832.1:c.4783_4789del NP_001305761.1:p.Asn1595ProfsTer19
NM_001363528.1:c.4753_4759del NP_001350457.1:p.Asn1585ProfsTer19
NM_021055.2:c.4822_4828del NP_066399.2:p.Asn1608ProfsTer19
XM_005255531.4:c.4753_4759del XP_005255588.2:p.Asn1585ProfsTer19
XM_011522636.2:c.5005_5011del XP_011520938.1:p.Asn1669ProfsTer19
XM_011522637.2:c.5002_5008del XP_011520939.1:p.Asn1668ProfsTer19
XM_011522638.2:c.5167_5173del XP_011520940.2:p.Asn1723ProfsTer19
XM_011522639.2:c.4876_4882del XP_011520941.1:p.Asn1626ProfsTer19
XM_011522640.2:c.4873_4879del XP_011520942.1:p.Asn1625ProfsTer19
XM_017023615.1:c.4948_4954del XP_016879104.1:p.Asn1650ProfsTer19
XM_017023616.1:c.4819_4825del XP_016879105.1:p.Asn1607ProfsTer19
XM_017023617.1:c.4915_4921del XP_016879106.1:p.Asn1639ProfsTer19
XM_017023618.1:c.3661_3667del XP_016879107.1:p.Asn1221ProfsTer19
XM_024450413.1:c.4750_4756del XP_024306181.1:p.Asn1584ProfsTer19
NM_000548.5:c.4951_4957del MANE Select NP_000539.2:p.Asn1651ProfsTer19
NM_001370404.1:c.4819_4825del NP_001357333.1:p.Asn1607ProfsTer19
NM_001370405.1:c.4822_4828del NP_001357334.1:p.Asn1608ProfsTer19
NM_001077183.3:c.4750_4756del NP_001070651.1:p.Asn1584ProfsTer19
NM_001114382.3:c.4882_4888del NP_001107854.1:p.Asn1628ProfsTer19
NM_001318827.2:c.4642_4648del NP_001305756.1:p.Asn1548ProfsTer19
NM_001318829.2:c.4606_4612del NP_001305758.1:p.Asn1536ProfsTer19
NM_001318831.2:c.4219_4225del NP_001305760.1:p.Asn1407ProfsTer19
NM_001318832.2:c.4783_4789del NP_001305761.1:p.Asn1595ProfsTer19
NM_001363528.2:c.4753_4759del NP_001350457.1:p.Asn1585ProfsTer19
NM_021055.3:c.4822_4828del NP_066399.2:p.Asn1608ProfsTer19