Canonical Allele Identifier: CA2201991701

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064404_2064408delinsAGCCT , CM000678.2:g.2064404_2064408delinsAGCCT	GRCh38
NC_000016.9:g.2114405_2114409delinsAGCCT , CM000678.1:g.2114405_2114409delinsAGCCT	GRCh37
NC_000016.8:g.2054406_2054410delinsAGCCT	NCBI36
NG_005895.1:g.20099_20103delinsAGCCT , LRG_487:g.20099_20103delinsAGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*123_*127delinsAGCCT	ENSP00000455997.2:n.*123_*127delinsAGCCT
ENST00000642206.2:c.1621_1625delinsAGCCT	ENSP00000495146.2:p.Ser541=
ENST00000642365.2:c.1576_1580delinsAGCCT	ENSP00000495459.2:p.Ser526=
ENST00000644417.2:c.*1013_*1017delinsAGCCT	ENSP00000493912.2:n.*1013_*1017delinsAGCCT
ENST00000646464.2:c.*1181_*1185delinsAGCCT	ENSP00000496610.2:n.*1181_*1185delinsAGCCT
ENST00000219476.9:c.1576_1580delinsAGCCT MANE Select	ENSP00000219476.3:p.Ser526=
ENST00000350773.9:c.1576_1580delinsAGCCT	ENSP00000344383.4:p.Ser526=
ENST00000401874.7:c.1576_1580delinsAGCCT	ENSP00000384468.2:p.Ser526=
ENST00000463601.2:n.1704_1708delinsAGCCT
ENST00000568454.6:c.1609_1613delinsAGCCT	ENSP00000454487.1:p.Ser537=
ENST00000642365.1:c.233_237delinsAGCCT
ENST00000642561.1:c.1576_1580delinsAGCCT	ENSP00000495099.1:p.Ser526=
ENST00000642797.1:c.1576_1580delinsAGCCT	ENSP00000493846.1:p.Ser526=
ENST00000642812.1:n.1621_1625delinsAGCCT
ENST00000642936.1:c.1576_1580delinsAGCCT	ENSP00000494514.1:p.Ser526=
ENST00000643088.1:c.1576_1580delinsAGCCT	ENSP00000494747.1:p.Ser526=
ENST00000643149.1:n.3586_3590delinsAGCCT
ENST00000643298.1:c.*1078_*1082delinsAGCCT	ENSP00000494393.1:n.*1078_*1082delinsAGCCT
ENST00000643745.1:c.*508_*512delinsAGCCT	ENSP00000495948.1:n.*508_*512delinsAGCCT
ENST00000643946.1:c.1576_1580delinsAGCCT	ENSP00000495927.1:p.Ser526=
ENST00000644043.1:c.1576_1580delinsAGCCT	ENSP00000496262.1:p.Ser526=
ENST00000644135.1:c.1576_1580delinsAGCCT	ENSP00000495644.1:p.Ser526=
ENST00000644222.1:n.1663_1667delinsAGCCT
ENST00000644329.1:c.1576_1580delinsAGCCT	ENSP00000496611.1:p.Ser526=
ENST00000644335.1:c.1576_1580delinsAGCCT	ENSP00000496317.1:p.Ser526=
ENST00000644399.1:c.1569_1573delinsAGCCT
ENST00000644665.1:n.2750_2754delinsAGCCT
ENST00000644847.1:n.568_572delinsAGCCT
ENST00000645591.1:n.2634_2638delinsAGCCT
ENST00000646388.1:c.1576_1580delinsAGCCT	ENSP00000495921.1:p.Ser526=
ENST00000646634.1:n.589_593delinsAGCCT
ENST00000647234.1:n.3334_3338delinsAGCCT
ENST00000647242.1:n.2212_2216delinsAGCCT
ENST00000219476.7:c.1576_1580delinsAGCCT	ENSP00000219476.3:p.Ser526=
ENST00000350773.8:c.1576_1580delinsAGCCT	ENSP00000344383.4:p.Ser526=
ENST00000382538.10:c.1429_1433delinsAGCCT	ENSP00000371978.6:p.Ser477=
ENST00000401874.6:c.1576_1580delinsAGCCT	ENSP00000384468.2:p.Ser526=
ENST00000439117.6:c.*875_*879delinsAGCCT	ENSP00000406980.2:n.*875_*879delinsAGCCT
ENST00000439673.6:c.1465_1469delinsAGCCT	ENSP00000399232.2:p.Ser489=
ENST00000490108.1:n.349_353delinsAGCCT
ENST00000568238.1:n.334_338delinsAGCCT
ENST00000568454.5:c.1609_1613delinsAGCCT	ENSP00000454487.1:p.Ser537=
ENST00000568566.5:c.216_220delinsAGCCT	ENSP00000455997.1:n.216_220delinsAGCCT
NM_000548.3:c.1576_1580delinsAGCCT , LRG_487t1:c.1576_1580delinsAGCCT	NP_000539.2:p.Ser526=
NM_001077183.1:c.1576_1580delinsAGCCT	NP_001070651.1:p.Ser526=
NM_001114382.1:c.1576_1580delinsAGCCT	NP_001107854.1:p.Ser526=
XM_005255529.3:c.1576_1580delinsAGCCT	XP_005255586.2:p.Ser526=
XM_005255531.3:c.1576_1580delinsAGCCT	XP_005255588.2:p.Ser526=
XM_011522636.1:c.1576_1580delinsAGCCT	XP_011520938.1:p.Ser526=
XM_011522637.1:c.1576_1580delinsAGCCT	XP_011520939.1:p.Ser526=
XM_011522638.1:c.1465_1469delinsAGCCT	XP_011520940.1:p.Ser489=
XM_011522639.1:c.1576_1580delinsAGCCT	XP_011520941.1:p.Ser526=
XM_011522640.1:c.1576_1580delinsAGCCT	XP_011520942.1:p.Ser526=
XM_011522641.1:c.1465_1469delinsAGCCT	XP_011520943.1:p.Ser489=
NM_000548.4:c.1576_1580delinsAGCCT	NP_000539.2:p.Ser526=
NM_001077183.2:c.1576_1580delinsAGCCT	NP_001070651.1:p.Ser526=
NM_001114382.2:c.1576_1580delinsAGCCT	NP_001107854.1:p.Ser526=
NM_001318827.1:c.1465_1469delinsAGCCT	NP_001305756.1:p.Ser489=
NM_001318829.1:c.1429_1433delinsAGCCT	NP_001305758.1:p.Ser477=
NM_001318831.1:c.976_980delinsAGCCT	NP_001305760.1:p.Ser326=
NM_001318832.1:c.1609_1613delinsAGCCT	NP_001305761.1:p.Ser537=
NM_001363528.1:c.1576_1580delinsAGCCT	NP_001350457.1:p.Ser526=
NM_021055.2:c.1576_1580delinsAGCCT	NP_066399.2:p.Ser526=
XM_005255531.4:c.1576_1580delinsAGCCT	XP_005255588.2:p.Ser526=
XM_011522636.2:c.1576_1580delinsAGCCT	XP_011520938.1:p.Ser526=
XM_011522637.2:c.1576_1580delinsAGCCT	XP_011520939.1:p.Ser526=
XM_011522638.2:c.1738_1742delinsAGCCT	XP_011520940.2:p.Ser580=
XM_011522639.2:c.1576_1580delinsAGCCT	XP_011520941.1:p.Ser526=
XM_011522640.2:c.1576_1580delinsAGCCT	XP_011520942.1:p.Ser526=
XM_017023615.1:c.1576_1580delinsAGCCT	XP_016879104.1:p.Ser526=
XM_017023616.1:c.1576_1580delinsAGCCT	XP_016879105.1:p.Ser526=
XM_017023617.1:c.1738_1742delinsAGCCT	XP_016879106.1:p.Ser580=
XM_017023618.1:c.232_236delinsAGCCT	XP_016879107.1:p.Ser78=
XM_024450413.1:c.1576_1580delinsAGCCT	XP_024306181.1:p.Ser526=
NM_000548.5:c.1576_1580delinsAGCCT MANE Select	NP_000539.2:p.Ser526=
NM_001370404.1:c.1576_1580delinsAGCCT	NP_001357333.1:p.Ser526=
NM_001370405.1:c.1576_1580delinsAGCCT	NP_001357334.1:p.Ser526=
NM_001077183.3:c.1576_1580delinsAGCCT	NP_001070651.1:p.Ser526=
NM_001114382.3:c.1576_1580delinsAGCCT	NP_001107854.1:p.Ser526=
NM_001318827.2:c.1465_1469delinsAGCCT	NP_001305756.1:p.Ser489=
NM_001318829.2:c.1429_1433delinsAGCCT	NP_001305758.1:p.Ser477=
NM_001318831.2:c.976_980delinsAGCCT	NP_001305760.1:p.Ser326=
NM_001318832.2:c.1609_1613delinsAGCCT	NP_001305761.1:p.Ser537=
NM_001363528.2:c.1576_1580delinsAGCCT	NP_001350457.1:p.Ser526=
NM_021055.3:c.1576_1580delinsAGCCT	NP_066399.2:p.Ser526=