Canonical Allele Identifier: CA2575877680

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085095del , CM000678.2:g.2085095del	GRCh38
NC_000016.9:g.2135096del , CM000678.1:g.2135096del	GRCh37
NC_000016.8:g.2075097del	NCBI36
NG_005895.1:g.40790del , LRG_487:g.40790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2918+69del	ENSP00000455997.2:n.*2918+69del
ENST00000642206.2:c.4416+69del	ENSP00000495146.2:n.4416+69del
ENST00000642365.2:c.4566+69del	ENSP00000495459.2:n.4566+69del
ENST00000644417.2:c.*4949+69del	ENSP00000493912.2:n.*4949+69del
ENST00000646464.2:c.*7318+69del	ENSP00000496610.2:n.*7318+69del
ENST00000219476.9:c.4569+69del MANE Select	ENSP00000219476.3:n.4569+69del
ENST00000350773.9:c.4500+69del	ENSP00000344383.4:n.4500+69del
ENST00000401874.7:c.4368+69del	ENSP00000384468.2:n.4368+69del
ENST00000568454.6:c.4401+69del	ENSP00000454487.1:n.4401+69del
ENST00000569110.2:c.792+69del
ENST00000569930.2:n.2451+69del
ENST00000642365.1:c.3223+69del
ENST00000642561.1:c.4440+69del	ENSP00000495099.1:n.4440+69del
ENST00000642728.1:n.751+69del
ENST00000642791.1:n.32del
ENST00000642797.1:c.4371+69del	ENSP00000493846.1:n.4371+69del
ENST00000642936.1:c.4437+69del	ENSP00000494514.1:n.4437+69del
ENST00000643088.1:c.4368+69del	ENSP00000494747.1:n.4368+69del
ENST00000643177.1:n.583+69del
ENST00000643426.1:n.2217+69del
ENST00000643946.1:c.4500+69del	ENSP00000495927.1:n.4500+69del
ENST00000644043.1:c.4440+69del	ENSP00000496262.1:n.4440+69del
ENST00000644329.1:c.4368+69del	ENSP00000496611.1:n.4368+69del
ENST00000644335.1:c.4371+69del	ENSP00000496317.1:n.4371+69del
ENST00000644399.1:c.4490+69del
ENST00000645024.1:n.2653+69del
ENST00000646388.1:c.4569+69del	ENSP00000495921.1:n.4569+69del
ENST00000646634.1:n.3384+69del
ENST00000646674.1:n.1821+69del
ENST00000647042.1:n.1792+69del
ENST00000647180.1:n.1682+69del
ENST00000219476.7:c.4569+69del	ENSP00000219476.3:n.4569+69del
ENST00000350773.8:c.4500+69del	ENSP00000344383.4:n.4500+69del
ENST00000382538.10:c.4224+69del	ENSP00000371978.6:n.4224+69del
ENST00000401874.6:c.4368+69del	ENSP00000384468.2:n.4368+69del
ENST00000439117.6:c.*3736+69del	ENSP00000406980.2:n.*3736+69del
ENST00000439673.6:c.4260+69del	ENSP00000399232.2:n.4260+69del
ENST00000497886.5:n.2327+69del
ENST00000568454.5:c.4401+69del	ENSP00000454487.1:n.4401+69del
ENST00000569110.1:c.751+69del
ENST00000569930.1:n.1684+69del
NM_000548.3:c.4569+69del , LRG_487t1:c.4569+69del	NP_000539.2:n.4569+69del
NM_001077183.1:c.4368+69del	NP_001070651.1:n.4368+69del
NM_001114382.1:c.4500+69del	NP_001107854.1:n.4500+69del
XM_005255529.3:c.4440+69del	XP_005255586.2:n.4440+69del
XM_005255531.3:c.4371+69del	XP_005255588.2:n.4371+69del
XM_011522636.1:c.4623+69del	XP_011520938.1:n.4623+69del
XM_011522637.1:c.4620+69del	XP_011520939.1:n.4620+69del
XM_011522638.1:c.4512+69del	XP_011520940.1:n.4512+69del
XM_011522639.1:c.4494+69del	XP_011520941.1:n.4494+69del
XM_011522640.1:c.4491+69del	XP_011520942.1:n.4491+69del
XM_011522641.1:c.4260+69del	XP_011520943.1:n.4260+69del
NM_000548.4:c.4569+69del	NP_000539.2:n.4569+69del
NM_001077183.2:c.4368+69del	NP_001070651.1:n.4368+69del
NM_001114382.2:c.4500+69del	NP_001107854.1:n.4500+69del
NM_001318827.1:c.4260+69del	NP_001305756.1:n.4260+69del
NM_001318829.1:c.4224+69del	NP_001305758.1:n.4224+69del
NM_001318831.1:c.3837+69del	NP_001305760.1:n.3837+69del
NM_001318832.1:c.4401+69del	NP_001305761.1:n.4401+69del
NM_001363528.1:c.4371+69del	NP_001350457.1:n.4371+69del
NM_021055.2:c.4440+69del	NP_066399.2:n.4440+69del
XM_005255531.4:c.4371+69del	XP_005255588.2:n.4371+69del
XM_011522636.2:c.4623+69del	XP_011520938.1:n.4623+69del
XM_011522637.2:c.4620+69del	XP_011520939.1:n.4620+69del
XM_011522638.2:c.4785+69del	XP_011520940.2:n.4785+69del
XM_011522639.2:c.4494+69del	XP_011520941.1:n.4494+69del
XM_011522640.2:c.4491+69del	XP_011520942.1:n.4491+69del
XM_017023615.1:c.4566+69del	XP_016879104.1:n.4566+69del
XM_017023616.1:c.4437+69del	XP_016879105.1:n.4437+69del
XM_017023617.1:c.4533+69del	XP_016879106.1:n.4533+69del
XM_017023618.1:c.3279+69del	XP_016879107.1:n.3279+69del
XM_024450413.1:c.4368+69del	XP_024306181.1:n.4368+69del
NM_000548.5:c.4569+69del MANE Select	NP_000539.2:n.4569+69del
NM_001370404.1:c.4437+69del	NP_001357333.1:n.4437+69del
NM_001370405.1:c.4440+69del	NP_001357334.1:n.4440+69del
NM_001077183.3:c.4368+69del	NP_001070651.1:n.4368+69del
NM_001114382.3:c.4500+69del	NP_001107854.1:n.4500+69del
NM_001318827.2:c.4260+69del	NP_001305756.1:n.4260+69del
NM_001318829.2:c.4224+69del	NP_001305758.1:n.4224+69del
NM_001318831.2:c.3837+69del	NP_001305760.1:n.3837+69del
NM_001318832.2:c.4401+69del	NP_001305761.1:n.4401+69del
NM_001363528.2:c.4371+69del	NP_001350457.1:n.4371+69del
NM_021055.3:c.4440+69del	NP_066399.2:n.4440+69del