Canonical Allele Identifier: CA2202034691
Gene: TSC2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088617_2088629delinsGGCCCTCCCTCCT , CM000678.2:g.2088617_2088629delinsGGCCCTCCCTCCT GRCh38
NC_000016.9:g.2138618_2138630delinsGGCCCTCCCTCCT , CM000678.1:g.2138618_2138630delinsGGCCCTCCCTCCT GRCh37
NC_000016.8:g.2078619_2078631delinsGGCCCTCCCTCCT NCBI36
NG_005895.1:g.44312_44324delinsGGCCCTCCCTCCT , LRG_487:g.44312_44324delinsGGCCCTCCCTCCT
NG_008617.1:g.54592_54604delinsAGGAGGGAGGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3780_*3792delinsGGCCCTCCCTCCT ENSP00000455997.2:n.*3780_*3792delinsGGCCCTCCCTCCT
ENST00000642206.2:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000495146.2:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000642365.2:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000495459.2:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000644417.2:c.*5944_*5956delinsGGCCCTCCCTCCT ENSP00000493912.2:n.*5944_*5956delinsGGCCCTCCCTCCT
ENST00000646464.2:c.*8180_*8192delinsGGCCCTCCCTCCT ENSP00000496610.2:n.*8180_*8192delinsGGCCCTCCCTCCT
ENST00000219476.9:c.*7_*19delinsGGCCCTCCCTCCT MANE Select ENSP00000219476.3:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000350773.9:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000344383.4:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000401874.7:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000384468.2:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000568454.6:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000454487.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000569110.2:c.1654_1666delinsGGCCCTCCCTCCT
ENST00000569930.2:n.3313_3325delinsGGCCCTCCCTCCT
ENST00000642365.1:c.4085_4097delinsGGCCCTCCCTCCT
ENST00000642561.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000495099.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000642791.1:n.1028_1040delinsGGCCCTCCCTCCT
ENST00000642797.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000493846.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000642936.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000494514.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000643088.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000494747.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000643426.1:n.3079_3091delinsGGCCCTCCCTCCT
ENST00000643946.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000495927.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000644043.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000496262.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000644329.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000496611.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000644335.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000496317.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000644399.1:c.5352_5364delinsGGCCCTCCCTCCT
ENST00000646388.1:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000495921.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000646634.1:n.4246_4258delinsGGCCCTCCCTCCT
ENST00000646674.1:n.2683_2695delinsGGCCCTCCCTCCT
ENST00000647042.1:n.2654_2666delinsGGCCCTCCCTCCT
ENST00000647180.1:n.2544_2556delinsGGCCCTCCCTCCT
ENST00000219476.7:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000219476.3:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000350773.8:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000344383.4:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000382538.10:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000371978.6:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000401874.6:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000384468.2:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000439117.6:c.*4598_*4610delinsGGCCCTCCCTCCT ENSP00000406980.2:n.*4598_*4610delinsGGCCCTCCCTCCT
ENST00000439673.6:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000399232.2:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000497886.5:n.3154_3166delinsGGCCCTCCCTCCT
ENST00000568454.5:c.*7_*19delinsGGCCCTCCCTCCT ENSP00000454487.1:n.*7_*19delinsGGCCCTCCCTCCT
ENST00000569110.1:c.1613_1625delinsGGCCCTCCCTCCT
ENST00000569930.1:n.2546_2558delinsGGCCCTCCCTCCT
NM_000548.3:c.*7_*19delinsGGCCCTCCCTCCT , LRG_487t1:c.*7_*19delinsGGCCCTCCCTCCT NP_000539.2:n.*7_*19delinsGGCCCTCCCTCCT
NM_001077183.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001070651.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001114382.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001107854.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_005255529.3:c.*7_*19delinsGGCCCTCCCTCCT XP_005255586.2:n.*7_*19delinsGGCCCTCCCTCCT
XM_005255531.3:c.*7_*19delinsGGCCCTCCCTCCT XP_005255588.2:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522636.1:c.*7_*19delinsGGCCCTCCCTCCT XP_011520938.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522637.1:c.*7_*19delinsGGCCCTCCCTCCT XP_011520939.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522638.1:c.*7_*19delinsGGCCCTCCCTCCT XP_011520940.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522639.1:c.*7_*19delinsGGCCCTCCCTCCT XP_011520941.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522640.1:c.*7_*19delinsGGCCCTCCCTCCT XP_011520942.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522641.1:c.*7_*19delinsGGCCCTCCCTCCT XP_011520943.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_000548.4:c.*7_*19delinsGGCCCTCCCTCCT NP_000539.2:n.*7_*19delinsGGCCCTCCCTCCT
NM_001077183.2:c.*7_*19delinsGGCCCTCCCTCCT NP_001070651.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001114382.2:c.*7_*19delinsGGCCCTCCCTCCT NP_001107854.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001318827.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001305756.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001318829.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001305758.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001318831.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001305760.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001318832.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001305761.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001363528.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001350457.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_021055.2:c.*7_*19delinsGGCCCTCCCTCCT NP_066399.2:n.*7_*19delinsGGCCCTCCCTCCT
XM_005255531.4:c.*7_*19delinsGGCCCTCCCTCCT XP_005255588.2:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522636.2:c.*7_*19delinsGGCCCTCCCTCCT XP_011520938.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522637.2:c.*7_*19delinsGGCCCTCCCTCCT XP_011520939.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522638.2:c.*7_*19delinsGGCCCTCCCTCCT XP_011520940.2:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522639.2:c.*7_*19delinsGGCCCTCCCTCCT XP_011520941.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_011522640.2:c.*7_*19delinsGGCCCTCCCTCCT XP_011520942.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_017023615.1:c.*7_*19delinsGGCCCTCCCTCCT XP_016879104.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_017023616.1:c.*7_*19delinsGGCCCTCCCTCCT XP_016879105.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_017023617.1:c.*7_*19delinsGGCCCTCCCTCCT XP_016879106.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_017023618.1:c.*7_*19delinsGGCCCTCCCTCCT XP_016879107.1:n.*7_*19delinsGGCCCTCCCTCCT
XM_024450413.1:c.*7_*19delinsGGCCCTCCCTCCT XP_024306181.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_000548.5:c.*7_*19delinsGGCCCTCCCTCCT MANE Select NP_000539.2:n.*7_*19delinsGGCCCTCCCTCCT
NM_001370404.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001357333.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001370405.1:c.*7_*19delinsGGCCCTCCCTCCT NP_001357334.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001077183.3:c.*7_*19delinsGGCCCTCCCTCCT NP_001070651.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001114382.3:c.*7_*19delinsGGCCCTCCCTCCT NP_001107854.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001318827.2:c.*7_*19delinsGGCCCTCCCTCCT NP_001305756.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001318829.2:c.*7_*19delinsGGCCCTCCCTCCT NP_001305758.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001318831.2:c.*7_*19delinsGGCCCTCCCTCCT NP_001305760.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001318832.2:c.*7_*19delinsGGCCCTCCCTCCT NP_001305761.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_001363528.2:c.*7_*19delinsGGCCCTCCCTCCT NP_001350457.1:n.*7_*19delinsGGCCCTCCCTCCT
NM_021055.3:c.*7_*19delinsGGCCCTCCCTCCT NP_066399.2:n.*7_*19delinsGGCCCTCCCTCCT
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