Canonical Allele Identifier: CA2202018584

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2076096_2076105delinsCATCACGTCA , CM000678.2:g.2076096_2076105delinsCATCACGTCA	GRCh38
NC_000016.9:g.2126097_2126106delinsCATCACGTCA , CM000678.1:g.2126097_2126106delinsCATCACGTCA	GRCh37
NC_000016.8:g.2066098_2066107delinsCATCACGTCA	NCBI36
NG_005895.1:g.31791_31800delinsCATCACGTCA , LRG_487:g.31791_31800delinsCATCACGTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*1215_*1224delinsCATCACGTCA	ENSP00000455997.2:n.*1215_*1224delinsCATC...
ENST00000642206.2:c.2713_2722delinsCATCACGTCA	ENSP00000495146.2:p.His905=
ENST00000642365.2:c.2668_2677delinsCATCACGTCA	ENSP00000495459.2:p.His890=
ENST00000644417.2:c.*2105_*2114delinsCATCACGTCA	ENSP00000493912.2:n.*2105_*2114delinsCATC...
ENST00000646464.2:c.*3722_*3731delinsCATCACGTCA	ENSP00000496610.2:n.*3722_*3731delinsCATC...
ENST00000219476.9:c.2668_2677delinsCATCACGTCA MANE Select	ENSP00000219476.3:p.His890=
ENST00000350773.9:c.2668_2677delinsCATCACGTCA	ENSP00000344383.4:p.His890=
ENST00000401874.7:c.2668_2677delinsCATCACGTCA	ENSP00000384468.2:p.His890=
ENST00000568454.6:c.2701_2710delinsCATCACGTCA	ENSP00000454487.1:p.His901=
ENST00000642365.1:c.1325_1334delinsCATCACGTCA
ENST00000642561.1:c.2668_2677delinsCATCACGTCA	ENSP00000495099.1:p.His890=
ENST00000642797.1:c.2668_2677delinsCATCACGTCA	ENSP00000493846.1:p.His890=
ENST00000642936.1:c.2668_2677delinsCATCACGTCA	ENSP00000494514.1:p.His890=
ENST00000643088.1:c.2668_2677delinsCATCACGTCA	ENSP00000494747.1:p.His890=
ENST00000643946.1:c.2668_2677delinsCATCACGTCA	ENSP00000495927.1:p.His890=
ENST00000644043.1:c.2668_2677delinsCATCACGTCA	ENSP00000496262.1:p.His890=
ENST00000644329.1:c.2668_2677delinsCATCACGTCA	ENSP00000496611.1:p.His890=
ENST00000644335.1:c.2668_2677delinsCATCACGTCA	ENSP00000496317.1:p.His890=
ENST00000644399.1:c.2661_2670delinsCATCACGTCA
ENST00000645024.1:n.950_959delinsCATCACGTCA
ENST00000646388.1:c.2668_2677delinsCATCACGTCA	ENSP00000495921.1:p.His890=
ENST00000646634.1:n.1681_1690delinsCATCACGTCA
ENST00000219476.7:c.2668_2677delinsCATCACGTCA	ENSP00000219476.3:p.His890=
ENST00000350773.8:c.2668_2677delinsCATCACGTCA	ENSP00000344383.4:p.His890=
ENST00000382538.10:c.2521_2530delinsCATCACGTCA	ENSP00000371978.6:p.His841=
ENST00000401874.6:c.2668_2677delinsCATCACGTCA	ENSP00000384468.2:p.His890=
ENST00000439117.6:c.*1967_*1976delinsCATCACGTCA	ENSP00000406980.2:n.*1967_*1976delinsCATC...
ENST00000439673.6:c.2557_2566delinsCATCACGTCA	ENSP00000399232.2:p.His853=
ENST00000568454.5:c.2701_2710delinsCATCACGTCA	ENSP00000454487.1:p.His901=
NM_000548.3:c.2668_2677delinsCATCACGTCA , LRG_487t1:c.2668_2677delinsCATCACGTCA	NP_000539.2:p.His890=
NM_001077183.1:c.2668_2677delinsCATCACGTCA	NP_001070651.1:p.His890=
NM_001114382.1:c.2668_2677delinsCATCACGTCA	NP_001107854.1:p.His890=
XM_005255529.3:c.2668_2677delinsCATCACGTCA	XP_005255586.2:p.His890=
XM_005255531.3:c.2668_2677delinsCATCACGTCA	XP_005255588.2:p.His890=
XM_011522636.1:c.2668_2677delinsCATCACGTCA	XP_011520938.1:p.His890=
XM_011522637.1:c.2668_2677delinsCATCACGTCA	XP_011520939.1:p.His890=
XM_011522638.1:c.2557_2566delinsCATCACGTCA	XP_011520940.1:p.His853=
XM_011522639.1:c.2668_2677delinsCATCACGTCA	XP_011520941.1:p.His890=
XM_011522640.1:c.2668_2677delinsCATCACGTCA	XP_011520942.1:p.His890=
XM_011522641.1:c.2557_2566delinsCATCACGTCA	XP_011520943.1:p.His853=
NM_000548.4:c.2668_2677delinsCATCACGTCA	NP_000539.2:p.His890=
NM_001077183.2:c.2668_2677delinsCATCACGTCA	NP_001070651.1:p.His890=
NM_001114382.2:c.2668_2677delinsCATCACGTCA	NP_001107854.1:p.His890=
NM_001318827.1:c.2557_2566delinsCATCACGTCA	NP_001305756.1:p.His853=
NM_001318829.1:c.2521_2530delinsCATCACGTCA	NP_001305758.1:p.His841=
NM_001318831.1:c.2068_2077delinsCATCACGTCA	NP_001305760.1:p.His690=
NM_001318832.1:c.2701_2710delinsCATCACGTCA	NP_001305761.1:p.His901=
NM_001363528.1:c.2668_2677delinsCATCACGTCA	NP_001350457.1:p.His890=
NM_021055.2:c.2668_2677delinsCATCACGTCA	NP_066399.2:p.His890=
XM_005255531.4:c.2668_2677delinsCATCACGTCA	XP_005255588.2:p.His890=
XM_011522636.2:c.2668_2677delinsCATCACGTCA	XP_011520938.1:p.His890=
XM_011522637.2:c.2668_2677delinsCATCACGTCA	XP_011520939.1:p.His890=
XM_011522638.2:c.2830_2839delinsCATCACGTCA	XP_011520940.2:p.His944=
XM_011522639.2:c.2668_2677delinsCATCACGTCA	XP_011520941.1:p.His890=
XM_011522640.2:c.2668_2677delinsCATCACGTCA	XP_011520942.1:p.His890=
XM_017023615.1:c.2668_2677delinsCATCACGTCA	XP_016879104.1:p.His890=
XM_017023616.1:c.2668_2677delinsCATCACGTCA	XP_016879105.1:p.His890=
XM_017023617.1:c.2830_2839delinsCATCACGTCA	XP_016879106.1:p.His944=
XM_017023618.1:c.1324_1333delinsCATCACGTCA	XP_016879107.1:p.His442=
XM_024450413.1:c.2668_2677delinsCATCACGTCA	XP_024306181.1:p.His890=
NM_000548.5:c.2668_2677delinsCATCACGTCA MANE Select	NP_000539.2:p.His890=
NM_001370404.1:c.2668_2677delinsCATCACGTCA	NP_001357333.1:p.His890=
NM_001370405.1:c.2668_2677delinsCATCACGTCA	NP_001357334.1:p.His890=
NM_001077183.3:c.2668_2677delinsCATCACGTCA	NP_001070651.1:p.His890=
NM_001114382.3:c.2668_2677delinsCATCACGTCA	NP_001107854.1:p.His890=
NM_001318827.2:c.2557_2566delinsCATCACGTCA	NP_001305756.1:p.His853=
NM_001318829.2:c.2521_2530delinsCATCACGTCA	NP_001305758.1:p.His841=
NM_001318831.2:c.2068_2077delinsCATCACGTCA	NP_001305760.1:p.His690=
NM_001318832.2:c.2701_2710delinsCATCACGTCA	NP_001305761.1:p.His901=
NM_001363528.2:c.2668_2677delinsCATCACGTCA	NP_001350457.1:p.His890=
NM_021055.3:c.2668_2677delinsCATCACGTCA	NP_066399.2:p.His890=