Canonical Allele Identifier: CA2631120871

Gene: TSC2

Linked Data

• gnomAD v4: 16-2085104-TGGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085105_2085109del , CM000678.2:g.2085105_2085109del	GRCh38
NC_000016.9:g.2135106_2135110del , CM000678.1:g.2135106_2135110del	GRCh37
NC_000016.8:g.2075107_2075111del	NCBI36
NG_005895.1:g.40800_40804del , LRG_487:g.40800_40804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2918+79_*2918+83del	ENSP00000455997.2:n.*2918+79_*2918+83del
ENST00000642206.2:c.4416+79_4416+83del	ENSP00000495146.2:n.4416+79_4416+83del
ENST00000642365.2:c.4566+79_4566+83del	ENSP00000495459.2:n.4566+79_4566+83del
ENST00000644417.2:c.*4949+79_*4949+83del	ENSP00000493912.2:n.*4949+79_*4949+83del
ENST00000646464.2:c.*7318+79_*7318+83del	ENSP00000496610.2:n.*7318+79_*7318+83del
ENST00000219476.9:c.4569+79_4569+83del MANE Select	ENSP00000219476.3:n.4569+79_4569+83del
ENST00000350773.9:c.4500+79_4500+83del	ENSP00000344383.4:n.4500+79_4500+83del
ENST00000401874.7:c.4368+79_4368+83del	ENSP00000384468.2:n.4368+79_4368+83del
ENST00000568454.6:c.4401+79_4401+83del	ENSP00000454487.1:n.4401+79_4401+83del
ENST00000569110.2:c.792+79_792+83del
ENST00000569930.2:n.2451+79_2451+83del
ENST00000642365.1:c.3223+79_3223+83del
ENST00000642561.1:c.4440+79_4440+83del	ENSP00000495099.1:n.4440+79_4440+83del
ENST00000642728.1:n.751+79_751+83del
ENST00000642791.1:n.42_46del
ENST00000642797.1:c.4371+79_4371+83del	ENSP00000493846.1:n.4371+79_4371+83del
ENST00000642936.1:c.4437+79_4437+83del	ENSP00000494514.1:n.4437+79_4437+83del
ENST00000643088.1:c.4368+79_4368+83del	ENSP00000494747.1:n.4368+79_4368+83del
ENST00000643177.1:n.583+79_583+83del
ENST00000643426.1:n.2217+79_2217+83del
ENST00000643946.1:c.4500+79_4500+83del	ENSP00000495927.1:n.4500+79_4500+83del
ENST00000644043.1:c.4440+79_4440+83del	ENSP00000496262.1:n.4440+79_4440+83del
ENST00000644329.1:c.4368+79_4368+83del	ENSP00000496611.1:n.4368+79_4368+83del
ENST00000644335.1:c.4371+79_4371+83del	ENSP00000496317.1:n.4371+79_4371+83del
ENST00000644399.1:c.4490+79_4490+83del
ENST00000645024.1:n.2653+79_2653+83del
ENST00000646388.1:c.4569+79_4569+83del	ENSP00000495921.1:n.4569+79_4569+83del
ENST00000646634.1:n.3384+79_3384+83del
ENST00000646674.1:n.1821+79_1821+83del
ENST00000647042.1:n.1792+79_1792+83del
ENST00000647180.1:n.1682+79_1682+83del
ENST00000219476.7:c.4569+79_4569+83del	ENSP00000219476.3:n.4569+79_4569+83del
ENST00000350773.8:c.4500+79_4500+83del	ENSP00000344383.4:n.4500+79_4500+83del
ENST00000382538.10:c.4224+79_4224+83del	ENSP00000371978.6:n.4224+79_4224+83del
ENST00000401874.6:c.4368+79_4368+83del	ENSP00000384468.2:n.4368+79_4368+83del
ENST00000439117.6:c.*3736+79_*3736+83del	ENSP00000406980.2:n.*3736+79_*3736+83del
ENST00000439673.6:c.4260+79_4260+83del	ENSP00000399232.2:n.4260+79_4260+83del
ENST00000497886.5:n.2327+79_2327+83del
ENST00000568454.5:c.4401+79_4401+83del	ENSP00000454487.1:n.4401+79_4401+83del
ENST00000569110.1:c.751+79_751+83del
ENST00000569930.1:n.1684+79_1684+83del
NM_000548.3:c.4569+79_4569+83del , LRG_487t1:c.4569+79_4569+83del	NP_000539.2:n.4569+79_4569+83del
NM_001077183.1:c.4368+79_4368+83del	NP_001070651.1:n.4368+79_4368+83del
NM_001114382.1:c.4500+79_4500+83del	NP_001107854.1:n.4500+79_4500+83del
XM_005255529.3:c.4440+79_4440+83del	XP_005255586.2:n.4440+79_4440+83del
XM_005255531.3:c.4371+79_4371+83del	XP_005255588.2:n.4371+79_4371+83del
XM_011522636.1:c.4623+79_4623+83del	XP_011520938.1:n.4623+79_4623+83del
XM_011522637.1:c.4620+79_4620+83del	XP_011520939.1:n.4620+79_4620+83del
XM_011522638.1:c.4512+79_4512+83del	XP_011520940.1:n.4512+79_4512+83del
XM_011522639.1:c.4494+79_4494+83del	XP_011520941.1:n.4494+79_4494+83del
XM_011522640.1:c.4491+79_4491+83del	XP_011520942.1:n.4491+79_4491+83del
XM_011522641.1:c.4260+79_4260+83del	XP_011520943.1:n.4260+79_4260+83del
NM_000548.4:c.4569+79_4569+83del	NP_000539.2:n.4569+79_4569+83del
NM_001077183.2:c.4368+79_4368+83del	NP_001070651.1:n.4368+79_4368+83del
NM_001114382.2:c.4500+79_4500+83del	NP_001107854.1:n.4500+79_4500+83del
NM_001318827.1:c.4260+79_4260+83del	NP_001305756.1:n.4260+79_4260+83del
NM_001318829.1:c.4224+79_4224+83del	NP_001305758.1:n.4224+79_4224+83del
NM_001318831.1:c.3837+79_3837+83del	NP_001305760.1:n.3837+79_3837+83del
NM_001318832.1:c.4401+79_4401+83del	NP_001305761.1:n.4401+79_4401+83del
NM_001363528.1:c.4371+79_4371+83del	NP_001350457.1:n.4371+79_4371+83del
NM_021055.2:c.4440+79_4440+83del	NP_066399.2:n.4440+79_4440+83del
XM_005255531.4:c.4371+79_4371+83del	XP_005255588.2:n.4371+79_4371+83del
XM_011522636.2:c.4623+79_4623+83del	XP_011520938.1:n.4623+79_4623+83del
XM_011522637.2:c.4620+79_4620+83del	XP_011520939.1:n.4620+79_4620+83del
XM_011522638.2:c.4785+79_4785+83del	XP_011520940.2:n.4785+79_4785+83del
XM_011522639.2:c.4494+79_4494+83del	XP_011520941.1:n.4494+79_4494+83del
XM_011522640.2:c.4491+79_4491+83del	XP_011520942.1:n.4491+79_4491+83del
XM_017023615.1:c.4566+79_4566+83del	XP_016879104.1:n.4566+79_4566+83del
XM_017023616.1:c.4437+79_4437+83del	XP_016879105.1:n.4437+79_4437+83del
XM_017023617.1:c.4533+79_4533+83del	XP_016879106.1:n.4533+79_4533+83del
XM_017023618.1:c.3279+79_3279+83del	XP_016879107.1:n.3279+79_3279+83del
XM_024450413.1:c.4368+79_4368+83del	XP_024306181.1:n.4368+79_4368+83del
NM_000548.5:c.4569+79_4569+83del MANE Select	NP_000539.2:n.4569+79_4569+83del
NM_001370404.1:c.4437+79_4437+83del	NP_001357333.1:n.4437+79_4437+83del
NM_001370405.1:c.4440+79_4440+83del	NP_001357334.1:n.4440+79_4440+83del
NM_001077183.3:c.4368+79_4368+83del	NP_001070651.1:n.4368+79_4368+83del
NM_001114382.3:c.4500+79_4500+83del	NP_001107854.1:n.4500+79_4500+83del
NM_001318827.2:c.4260+79_4260+83del	NP_001305756.1:n.4260+79_4260+83del
NM_001318829.2:c.4224+79_4224+83del	NP_001305758.1:n.4224+79_4224+83del
NM_001318831.2:c.3837+79_3837+83del	NP_001305760.1:n.3837+79_3837+83del
NM_001318832.2:c.4401+79_4401+83del	NP_001305761.1:n.4401+79_4401+83del
NM_001363528.2:c.4371+79_4371+83del	NP_001350457.1:n.4371+79_4371+83del
NM_021055.3:c.4440+79_4440+83del	NP_066399.2:n.4440+79_4440+83del