Canonical Allele Identifier: CA919640132
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1596424660
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085117_2085119del , CM000678.2:g.2085117_2085119del GRCh38
NC_000016.9:g.2135118_2135120del , CM000678.1:g.2135118_2135120del GRCh37
NC_000016.8:g.2075119_2075121del NCBI36
NG_005895.1:g.40812_40814del , LRG_487:g.40812_40814del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2918+91_*2918+93del ENSP00000455997.2:n.*2918+91_*2918+93del
ENST00000642206.2:c.4416+91_4416+93del ENSP00000495146.2:n.4416+91_4416+93del
ENST00000642365.2:c.4566+91_4566+93del ENSP00000495459.2:n.4566+91_4566+93del
ENST00000644417.2:c.*4949+91_*4949+93del ENSP00000493912.2:n.*4949+91_*4949+93del
ENST00000646464.2:c.*7318+91_*7318+93del ENSP00000496610.2:n.*7318+91_*7318+93del
ENST00000219476.9:c.4569+91_4569+93del MANE Select ENSP00000219476.3:n.4569+91_4569+93del
ENST00000350773.9:c.4500+91_4500+93del ENSP00000344383.4:n.4500+91_4500+93del
ENST00000401874.7:c.4368+91_4368+93del ENSP00000384468.2:n.4368+91_4368+93del
ENST00000568454.6:c.4401+91_4401+93del ENSP00000454487.1:n.4401+91_4401+93del
ENST00000569110.2:c.792+91_792+93del
ENST00000569930.2:n.2451+91_2451+93del
ENST00000642365.1:c.3223+91_3223+93del
ENST00000642561.1:c.4440+91_4440+93del ENSP00000495099.1:n.4440+91_4440+93del
ENST00000642728.1:n.751+91_751+93del
ENST00000642791.1:n.54_56del
ENST00000642797.1:c.4371+91_4371+93del ENSP00000493846.1:n.4371+91_4371+93del
ENST00000642936.1:c.4437+91_4437+93del ENSP00000494514.1:n.4437+91_4437+93del
ENST00000643088.1:c.4368+91_4368+93del ENSP00000494747.1:n.4368+91_4368+93del
ENST00000643177.1:n.583+91_583+93del
ENST00000643426.1:n.2217+91_2217+93del
ENST00000643946.1:c.4500+91_4500+93del ENSP00000495927.1:n.4500+91_4500+93del
ENST00000644043.1:c.4440+91_4440+93del ENSP00000496262.1:n.4440+91_4440+93del
ENST00000644329.1:c.4368+91_4368+93del ENSP00000496611.1:n.4368+91_4368+93del
ENST00000644335.1:c.4371+91_4371+93del ENSP00000496317.1:n.4371+91_4371+93del
ENST00000644399.1:c.4490+91_4490+93del
ENST00000645024.1:n.2653+91_2653+93del
ENST00000646388.1:c.4569+91_4569+93del ENSP00000495921.1:n.4569+91_4569+93del
ENST00000646634.1:n.3384+91_3384+93del
ENST00000646674.1:n.1821+91_1821+93del
ENST00000647042.1:n.1792+91_1792+93del
ENST00000647180.1:n.1682+91_1682+93del
ENST00000219476.7:c.4569+91_4569+93del ENSP00000219476.3:n.4569+91_4569+93del
ENST00000350773.8:c.4500+91_4500+93del ENSP00000344383.4:n.4500+91_4500+93del
ENST00000382538.10:c.4224+91_4224+93del ENSP00000371978.6:n.4224+91_4224+93del
ENST00000401874.6:c.4368+91_4368+93del ENSP00000384468.2:n.4368+91_4368+93del
ENST00000439117.6:c.*3736+91_*3736+93del ENSP00000406980.2:n.*3736+91_*3736+93del
ENST00000439673.6:c.4260+91_4260+93del ENSP00000399232.2:n.4260+91_4260+93del
ENST00000497886.5:n.2327+91_2327+93del
ENST00000568454.5:c.4401+91_4401+93del ENSP00000454487.1:n.4401+91_4401+93del
ENST00000569110.1:c.751+91_751+93del
ENST00000569930.1:n.1684+91_1684+93del
NM_000548.3:c.4569+91_4569+93del , LRG_487t1:c.4569+91_4569+93del NP_000539.2:n.4569+91_4569+93del
NM_001077183.1:c.4368+91_4368+93del NP_001070651.1:n.4368+91_4368+93del
NM_001114382.1:c.4500+91_4500+93del NP_001107854.1:n.4500+91_4500+93del
XM_005255529.3:c.4440+91_4440+93del XP_005255586.2:n.4440+91_4440+93del
XM_005255531.3:c.4371+91_4371+93del XP_005255588.2:n.4371+91_4371+93del
XM_011522636.1:c.4623+91_4623+93del XP_011520938.1:n.4623+91_4623+93del
XM_011522637.1:c.4620+91_4620+93del XP_011520939.1:n.4620+91_4620+93del
XM_011522638.1:c.4512+91_4512+93del XP_011520940.1:n.4512+91_4512+93del
XM_011522639.1:c.4494+91_4494+93del XP_011520941.1:n.4494+91_4494+93del
XM_011522640.1:c.4491+91_4491+93del XP_011520942.1:n.4491+91_4491+93del
XM_011522641.1:c.4260+91_4260+93del XP_011520943.1:n.4260+91_4260+93del
NM_000548.4:c.4569+91_4569+93del NP_000539.2:n.4569+91_4569+93del
NM_001077183.2:c.4368+91_4368+93del NP_001070651.1:n.4368+91_4368+93del
NM_001114382.2:c.4500+91_4500+93del NP_001107854.1:n.4500+91_4500+93del
NM_001318827.1:c.4260+91_4260+93del NP_001305756.1:n.4260+91_4260+93del
NM_001318829.1:c.4224+91_4224+93del NP_001305758.1:n.4224+91_4224+93del
NM_001318831.1:c.3837+91_3837+93del NP_001305760.1:n.3837+91_3837+93del
NM_001318832.1:c.4401+91_4401+93del NP_001305761.1:n.4401+91_4401+93del
NM_001363528.1:c.4371+91_4371+93del NP_001350457.1:n.4371+91_4371+93del
NM_021055.2:c.4440+91_4440+93del NP_066399.2:n.4440+91_4440+93del
XM_005255531.4:c.4371+91_4371+93del XP_005255588.2:n.4371+91_4371+93del
XM_011522636.2:c.4623+91_4623+93del XP_011520938.1:n.4623+91_4623+93del
XM_011522637.2:c.4620+91_4620+93del XP_011520939.1:n.4620+91_4620+93del
XM_011522638.2:c.4785+91_4785+93del XP_011520940.2:n.4785+91_4785+93del
XM_011522639.2:c.4494+91_4494+93del XP_011520941.1:n.4494+91_4494+93del
XM_011522640.2:c.4491+91_4491+93del XP_011520942.1:n.4491+91_4491+93del
XM_017023615.1:c.4566+91_4566+93del XP_016879104.1:n.4566+91_4566+93del
XM_017023616.1:c.4437+91_4437+93del XP_016879105.1:n.4437+91_4437+93del
XM_017023617.1:c.4533+91_4533+93del XP_016879106.1:n.4533+91_4533+93del
XM_017023618.1:c.3279+91_3279+93del XP_016879107.1:n.3279+91_3279+93del
XM_024450413.1:c.4368+91_4368+93del XP_024306181.1:n.4368+91_4368+93del
NM_000548.5:c.4569+91_4569+93del MANE Select NP_000539.2:n.4569+91_4569+93del
NM_001370404.1:c.4437+91_4437+93del NP_001357333.1:n.4437+91_4437+93del
NM_001370405.1:c.4440+91_4440+93del NP_001357334.1:n.4440+91_4440+93del
NM_001077183.3:c.4368+91_4368+93del NP_001070651.1:n.4368+91_4368+93del
NM_001114382.3:c.4500+91_4500+93del NP_001107854.1:n.4500+91_4500+93del
NM_001318827.2:c.4260+91_4260+93del NP_001305756.1:n.4260+91_4260+93del
NM_001318829.2:c.4224+91_4224+93del NP_001305758.1:n.4224+91_4224+93del
NM_001318831.2:c.3837+91_3837+93del NP_001305760.1:n.3837+91_3837+93del
NM_001318832.2:c.4401+91_4401+93del NP_001305761.1:n.4401+91_4401+93del
NM_001363528.2:c.4371+91_4371+93del NP_001350457.1:n.4371+91_4371+93del
NM_021055.3:c.4440+91_4440+93del NP_066399.2:n.4440+91_4440+93del
Search 100 bp 5'
Search 100 bp 3'