Canonical Allele Identifier: CA2202019365
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085278_2085281delinsTACG , CM000678.2:g.2085278_2085281delinsTACG GRCh38
NC_000016.9:g.2135279_2135282delinsTACG , CM000678.1:g.2135279_2135282delinsTACG GRCh37
NC_000016.8:g.2075280_2075283delinsTACG NCBI36
NG_005895.1:g.40973_40976delinsTACG , LRG_487:g.40973_40976delinsTACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2967_*2970delinsTACG ENSP00000455997.2:n.*2967_*2970delinsTACG
ENST00000642206.2:c.4465_4468delinsTACG ENSP00000495146.2:p.Tyr1489=
ENST00000642365.2:c.4615_4618delinsTACG ENSP00000495459.2:p.Tyr1539=
ENST00000644417.2:c.*4998_*5001delinsTACG ENSP00000493912.2:n.*4998_*5001delinsTACG
ENST00000646464.2:c.*7367_*7370delinsTACG ENSP00000496610.2:n.*7367_*7370delinsTACG
ENST00000219476.9:c.4618_4621delinsTACG MANE Select ENSP00000219476.3:p.Tyr1540=
ENST00000350773.9:c.4549_4552delinsTACG ENSP00000344383.4:p.Tyr1517=
ENST00000401874.7:c.4417_4420delinsTACG ENSP00000384468.2:p.Tyr1473=
ENST00000568454.6:c.4450_4453delinsTACG ENSP00000454487.1:p.Tyr1484=
ENST00000569110.2:c.841_844delinsTACG
ENST00000569930.2:n.2500_2503delinsTACG
ENST00000642365.1:c.3272_3275delinsTACG
ENST00000642561.1:c.4489_4492delinsTACG ENSP00000495099.1:p.Tyr1497=
ENST00000642728.1:n.800_803delinsTACG
ENST00000642791.1:n.215_218delinsTACG
ENST00000642797.1:c.4420_4423delinsTACG ENSP00000493846.1:p.Tyr1474=
ENST00000642936.1:c.4486_4489delinsTACG ENSP00000494514.1:p.Tyr1496=
ENST00000643088.1:c.4411_4414delinsTACG ENSP00000494747.1:p.Tyr1471=
ENST00000643177.1:n.632_635delinsTACG
ENST00000643426.1:n.2266_2269delinsTACG
ENST00000643946.1:c.4543_4546delinsTACG ENSP00000495927.1:p.Tyr1515=
ENST00000644043.1:c.4489_4492delinsTACG ENSP00000496262.1:p.Tyr1497=
ENST00000644278.1:n.100_103delinsTACG
ENST00000644329.1:c.4417_4420delinsTACG ENSP00000496611.1:p.Tyr1473=
ENST00000644335.1:c.4414_4417delinsTACG ENSP00000496317.1:p.Tyr1472=
ENST00000644399.1:c.4539_4542delinsTACG
ENST00000645024.1:n.2702_2705delinsTACG
ENST00000646388.1:c.4612_4615delinsTACG ENSP00000495921.1:p.Tyr1538=
ENST00000646634.1:n.3433_3436delinsTACG
ENST00000646674.1:n.1870_1873delinsTACG
ENST00000647042.1:n.1841_1844delinsTACG
ENST00000647180.1:n.1731_1734delinsTACG
ENST00000219476.7:c.4618_4621delinsTACG ENSP00000219476.3:p.Tyr1540=
ENST00000350773.8:c.4549_4552delinsTACG ENSP00000344383.4:p.Tyr1517=
ENST00000382538.10:c.4273_4276delinsTACG ENSP00000371978.6:p.Tyr1425=
ENST00000401874.6:c.4417_4420delinsTACG ENSP00000384468.2:p.Tyr1473=
ENST00000439117.6:c.*3785_*3788delinsTACG ENSP00000406980.2:n.*3785_*3788delinsTACG
ENST00000439673.6:c.4309_4312delinsTACG ENSP00000399232.2:p.Tyr1437=
ENST00000497886.5:n.2376_2379delinsTACG
ENST00000568454.5:c.4450_4453delinsTACG ENSP00000454487.1:p.Tyr1484=
ENST00000569110.1:c.800_803delinsTACG
ENST00000569930.1:n.1733_1736delinsTACG
NM_000548.3:c.4618_4621delinsTACG , LRG_487t1:c.4618_4621delinsTACG NP_000539.2:p.Tyr1540=
NM_001077183.1:c.4417_4420delinsTACG NP_001070651.1:p.Tyr1473=
NM_001114382.1:c.4549_4552delinsTACG NP_001107854.1:p.Tyr1517=
XM_005255529.3:c.4489_4492delinsTACG XP_005255586.2:p.Tyr1497=
XM_005255531.3:c.4420_4423delinsTACG XP_005255588.2:p.Tyr1474=
XM_011522636.1:c.4672_4675delinsTACG XP_011520938.1:p.Tyr1558=
XM_011522637.1:c.4669_4672delinsTACG XP_011520939.1:p.Tyr1557=
XM_011522638.1:c.4561_4564delinsTACG XP_011520940.1:p.Tyr1521=
XM_011522639.1:c.4543_4546delinsTACG XP_011520941.1:p.Tyr1515=
XM_011522640.1:c.4540_4543delinsTACG XP_011520942.1:p.Tyr1514=
XM_011522641.1:c.4309_4312delinsTACG XP_011520943.1:p.Tyr1437=
NM_000548.4:c.4618_4621delinsTACG NP_000539.2:p.Tyr1540=
NM_001077183.2:c.4417_4420delinsTACG NP_001070651.1:p.Tyr1473=
NM_001114382.2:c.4549_4552delinsTACG NP_001107854.1:p.Tyr1517=
NM_001318827.1:c.4309_4312delinsTACG NP_001305756.1:p.Tyr1437=
NM_001318829.1:c.4273_4276delinsTACG NP_001305758.1:p.Tyr1425=
NM_001318831.1:c.3886_3889delinsTACG NP_001305760.1:p.Tyr1296=
NM_001318832.1:c.4450_4453delinsTACG NP_001305761.1:p.Tyr1484=
NM_001363528.1:c.4420_4423delinsTACG NP_001350457.1:p.Tyr1474=
NM_021055.2:c.4489_4492delinsTACG NP_066399.2:p.Tyr1497=
XM_005255531.4:c.4420_4423delinsTACG XP_005255588.2:p.Tyr1474=
XM_011522636.2:c.4672_4675delinsTACG XP_011520938.1:p.Tyr1558=
XM_011522637.2:c.4669_4672delinsTACG XP_011520939.1:p.Tyr1557=
XM_011522638.2:c.4834_4837delinsTACG XP_011520940.2:p.Tyr1612=
XM_011522639.2:c.4543_4546delinsTACG XP_011520941.1:p.Tyr1515=
XM_011522640.2:c.4540_4543delinsTACG XP_011520942.1:p.Tyr1514=
XM_017023615.1:c.4615_4618delinsTACG XP_016879104.1:p.Tyr1539=
XM_017023616.1:c.4486_4489delinsTACG XP_016879105.1:p.Tyr1496=
XM_017023617.1:c.4582_4585delinsTACG XP_016879106.1:p.Tyr1528=
XM_017023618.1:c.3328_3331delinsTACG XP_016879107.1:p.Tyr1110=
XM_024450413.1:c.4417_4420delinsTACG XP_024306181.1:p.Tyr1473=
NM_000548.5:c.4618_4621delinsTACG MANE Select NP_000539.2:p.Tyr1540=
NM_001370404.1:c.4486_4489delinsTACG NP_001357333.1:p.Tyr1496=
NM_001370405.1:c.4489_4492delinsTACG NP_001357334.1:p.Tyr1497=
NM_001077183.3:c.4417_4420delinsTACG NP_001070651.1:p.Tyr1473=
NM_001114382.3:c.4549_4552delinsTACG NP_001107854.1:p.Tyr1517=
NM_001318827.2:c.4309_4312delinsTACG NP_001305756.1:p.Tyr1437=
NM_001318829.2:c.4273_4276delinsTACG NP_001305758.1:p.Tyr1425=
NM_001318831.2:c.3886_3889delinsTACG NP_001305760.1:p.Tyr1296=
NM_001318832.2:c.4450_4453delinsTACG NP_001305761.1:p.Tyr1484=
NM_001363528.2:c.4420_4423delinsTACG NP_001350457.1:p.Tyr1474=
NM_021055.3:c.4489_4492delinsTACG NP_066399.2:p.Tyr1497=