Canonical Allele Identifier: CA2695221746
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088126_2088170del , CM000678.2:g.2088126_2088170del GRCh38
NC_000016.9:g.2138127_2138171del , CM000678.1:g.2138127_2138171del GRCh37
NC_000016.8:g.2078128_2078172del NCBI36
NG_005895.1:g.43821_43865del , LRG_487:g.43821_43865del
NG_008617.1:g.55054_55098del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3496_*3509+31del
ENST00000642206.2:c.4994_5007+31del
ENST00000642365.2:c.5144_5157+31del
ENST00000644417.2:c.*5660_*5673+31del
ENST00000646464.2:c.*7896_*7909+31del
ENST00000219476.9:c.5147_5160+31del
ENST00000350773.9:c.5078_5091+31del
ENST00000401874.7:c.4946_4959+31del
ENST00000568454.6:c.4979_4992+31del
ENST00000569110.2:c.1370_1383+31del
ENST00000569930.2:n.3029_3042+31del
ENST00000642365.1:c.3801_3814+31del
ENST00000642561.1:c.5018_5031+31del
ENST00000642791.1:n.744_757+31del
ENST00000642797.1:c.4949_4962+31del
ENST00000642936.1:c.5015_5028+31del
ENST00000643088.1:c.4940_4953+31del
ENST00000643426.1:n.2795_2808+31del
ENST00000643946.1:c.5072_5085+31del
ENST00000644043.1:c.5018_5031+31del
ENST00000644329.1:c.4946_4990del ENSP00000496611.1:p.Ala1649_Leu1663del
ENST00000644335.1:c.4943_4956+31del
ENST00000644399.1:c.5068_5081+31del
ENST00000645024.1:n.3231_3244+31del
ENST00000646388.1:c.5141_5154+31del
ENST00000646634.1:n.3962_3975+31del
ENST00000646674.1:n.2399_2412+31del
ENST00000647042.1:n.2370_2383+31del
ENST00000647180.1:n.2260_2273+31del
ENST00000219476.7:c.5147_5160+31del
ENST00000350773.8:c.5078_5091+31del
ENST00000382538.10:c.4802_4815+31del
ENST00000401874.6:c.4946_4959+31del
ENST00000439117.6:c.*4314_*4327+31del
ENST00000439673.6:c.4838_4851+31del
ENST00000497886.5:n.2870_2883+31del
ENST00000568454.5:c.4979_4992+31del
ENST00000569110.1:c.1329_1342+31del
ENST00000569930.1:n.2262_2275+31del
NM_000548.3:c.5147_5160+31del , LRG_487t1:c.5147_5160+31del
NM_001077183.1:c.4946_4959+31del
NM_001114382.1:c.5078_5091+31del
XM_005255529.3:c.5018_5031+31del
XM_005255531.3:c.4949_4962+31del
XM_011522636.1:c.5201_5214+31del
XM_011522637.1:c.5198_5211+31del
XM_011522638.1:c.5090_5103+31del
XM_011522639.1:c.5072_5085+31del
XM_011522640.1:c.5069_5082+31del
XM_011522641.1:c.4838_4851+31del
NM_000548.4:c.5147_5160+31del
NM_001077183.2:c.4946_4959+31del
NM_001114382.2:c.5078_5091+31del
NM_001318827.1:c.4838_4851+31del
NM_001318829.1:c.4802_4815+31del
NM_001318831.1:c.4415_4428+31del
NM_001318832.1:c.4979_4992+31del
NM_001363528.1:c.4949_4962+31del
NM_021055.2:c.5018_5031+31del
XM_005255531.4:c.4949_4962+31del
XM_011522636.2:c.5201_5214+31del
XM_011522637.2:c.5198_5211+31del
XM_011522638.2:c.5363_5376+31del
XM_011522639.2:c.5072_5085+31del
XM_011522640.2:c.5069_5082+31del
XM_017023615.1:c.5144_5157+31del
XM_017023616.1:c.5015_5028+31del
XM_017023617.1:c.5111_5124+31del
XM_017023618.1:c.3857_3870+31del
XM_024450413.1:c.4946_4990del XP_024306181.1:p.Ala1649_Leu1663del
NM_000548.5:c.5147_5160+31del
NM_001370404.1:c.5015_5028+31del
NM_001370405.1:c.5018_5031+31del
NM_001077183.3:c.4946_4959+31del
NM_001114382.3:c.5078_5091+31del
NM_001318827.2:c.4838_4851+31del
NM_001318829.2:c.4802_4815+31del
NM_001318831.2:c.4415_4428+31del
NM_001318832.2:c.4979_4992+31del
NM_001363528.2:c.4949_4962+31del
NM_021055.3:c.5018_5031+31del