Canonical Allele Identifier: CA2695221749
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088217_2088227delinsCCCCAG , CM000678.2:g.2088217_2088227delinsCCCCAG GRCh38
NC_000016.9:g.2138218_2138228delinsCCCCAG , CM000678.1:g.2138218_2138228delinsCCCCAG GRCh37
NC_000016.8:g.2078219_2078229delinsCCCCAG NCBI36
NG_005895.1:g.43912_43922delinsCCCCAG , LRG_487:g.43912_43922delinsCCCCAG
NG_008617.1:g.54994_55004delinsCTGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3510-10_*3510delinsCCCCAG
ENST00000642206.2:c.5008-10_5008delinsCCCCAG
ENST00000642365.2:c.5158-10_5158delinsCCCCAG
ENST00000644417.2:c.*5674-10_*5674delinsCCCCAG
ENST00000646464.2:c.*7910-10_*7910delinsCCCCAG
ENST00000219476.9:c.5161-10_5161delinsCCCCAG
ENST00000350773.9:c.5092-10_5092delinsCCCCAG
ENST00000401874.7:c.4960-10_4960delinsCCCCAG
ENST00000568454.6:c.4993-10_4993delinsCCCCAG
ENST00000569110.2:c.1384-10_1384delinsCCCCAG
ENST00000569930.2:n.3043-10_3043delinsCCCCAG
ENST00000642365.1:c.3815-10_3815delinsCCCCAG
ENST00000642561.1:c.5032-22_5032-12delinsCCCCAG ENSP00000495099.1:n.5032-22_5032-12delinsCCCCAG
ENST00000642791.1:n.758-10_758delinsCCCCAG
ENST00000642797.1:c.4963-10_4963delinsCCCCAG
ENST00000642936.1:c.5029-10_5029delinsCCCCAG
ENST00000643088.1:c.4954-10_4954delinsCCCCAG
ENST00000643426.1:n.2809-10_2809delinsCCCCAG
ENST00000643946.1:c.5086-10_5086delinsCCCCAG
ENST00000644043.1:c.5032-10_5032delinsCCCCAG
ENST00000644329.1:c.5037_5047delinsCCCCAG ENSP00000496611.1:p.Arg1680ProfsTer9
ENST00000644335.1:c.4957-10_4957delinsCCCCAG
ENST00000644399.1:c.5082-10_5082delinsCCCCAG
ENST00000645024.1:n.3245-10_3245delinsCCCCAG
ENST00000646388.1:c.5155-10_5155delinsCCCCAG
ENST00000646634.1:n.3976-10_3976delinsCCCCAG
ENST00000646674.1:n.2413-10_2413delinsCCCCAG
ENST00000647042.1:n.2384-10_2384delinsCCCCAG
ENST00000647180.1:n.2274-10_2274delinsCCCCAG
ENST00000219476.7:c.5161-10_5161delinsCCCCAG
ENST00000350773.8:c.5092-10_5092delinsCCCCAG
ENST00000382538.10:c.4816-10_4816delinsCCCCAG
ENST00000401874.6:c.4960-10_4960delinsCCCCAG
ENST00000439117.6:c.*4328-10_*4328delinsCCCCAG
ENST00000439673.6:c.4852-10_4852delinsCCCCAG
ENST00000497886.5:n.2884-10_2884delinsCCCCAG
ENST00000568454.5:c.4993-10_4993delinsCCCCAG
ENST00000569110.1:c.1343-10_1343delinsCCCCAG
ENST00000569930.1:n.2276-10_2276delinsCCCCAG
NM_000548.3:c.5161-10_5161delinsCCCCAG , LRG_487t1:c.5161-10_5161delinsCCCCAG
NM_001077183.1:c.4960-10_4960delinsCCCCAG
NM_001114382.1:c.5092-10_5092delinsCCCCAG
XM_005255529.3:c.5032-10_5032delinsCCCCAG
XM_005255531.3:c.4963-10_4963delinsCCCCAG
XM_011522636.1:c.5215-10_5215delinsCCCCAG
XM_011522637.1:c.5212-10_5212delinsCCCCAG
XM_011522638.1:c.5104-10_5104delinsCCCCAG
XM_011522639.1:c.5086-10_5086delinsCCCCAG
XM_011522640.1:c.5083-10_5083delinsCCCCAG
XM_011522641.1:c.4852-10_4852delinsCCCCAG
NM_000548.4:c.5161-10_5161delinsCCCCAG
NM_001077183.2:c.4960-10_4960delinsCCCCAG
NM_001114382.2:c.5092-10_5092delinsCCCCAG
NM_001318827.1:c.4852-10_4852delinsCCCCAG
NM_001318829.1:c.4816-10_4816delinsCCCCAG
NM_001318831.1:c.4429-10_4429delinsCCCCAG
NM_001318832.1:c.4993-10_4993delinsCCCCAG
NM_001363528.1:c.4963-10_4963delinsCCCCAG
NM_021055.2:c.5032-10_5032delinsCCCCAG
XM_005255531.4:c.4963-10_4963delinsCCCCAG
XM_011522636.2:c.5215-10_5215delinsCCCCAG
XM_011522637.2:c.5212-10_5212delinsCCCCAG
XM_011522638.2:c.5377-10_5377delinsCCCCAG
XM_011522639.2:c.5086-10_5086delinsCCCCAG
XM_011522640.2:c.5083-10_5083delinsCCCCAG
XM_017023615.1:c.5158-10_5158delinsCCCCAG
XM_017023616.1:c.5029-10_5029delinsCCCCAG
XM_017023617.1:c.5125-10_5125delinsCCCCAG
XM_017023618.1:c.3871-10_3871delinsCCCCAG
XM_024450413.1:c.5037_5047delinsCCCCAG XP_024306181.1:p.Arg1680ProfsTer9
NM_000548.5:c.5161-10_5161delinsCCCCAG
NM_001370404.1:c.5029-10_5029delinsCCCCAG
NM_001370405.1:c.5032-22_5032-12delinsCCCCAG NP_001357334.1:n.5032-22_5032-12delinsCCCCAG
NM_001077183.3:c.4960-10_4960delinsCCCCAG
NM_001114382.3:c.5092-10_5092delinsCCCCAG
NM_001318827.2:c.4852-10_4852delinsCCCCAG
NM_001318829.2:c.4816-10_4816delinsCCCCAG
NM_001318831.2:c.4429-10_4429delinsCCCCAG
NM_001318832.2:c.4993-10_4993delinsCCCCAG
NM_001363528.2:c.4963-10_4963delinsCCCCAG
NM_021055.3:c.5032-10_5032delinsCCCCAG