Canonical Allele Identifier: CA2575877687
Gene: TSC2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085148_2085160del , CM000678.2:g.2085148_2085160del GRCh38
NC_000016.9:g.2135149_2135161del , CM000678.1:g.2135149_2135161del GRCh37
NC_000016.8:g.2075150_2075162del NCBI36
NG_005895.1:g.40843_40855del , LRG_487:g.40843_40855del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2919-82_*2919-70del ENSP00000455997.2:n.*2919-82_*2919-70del
ENST00000642206.2:c.4417-82_4417-70del ENSP00000495146.2:n.4417-82_4417-70del
ENST00000642365.2:c.4567-82_4567-70del ENSP00000495459.2:n.4567-82_4567-70del
ENST00000644417.2:c.*4950-82_*4950-70del ENSP00000493912.2:n.*4950-82_*4950-70del
ENST00000646464.2:c.*7319-82_*7319-70del ENSP00000496610.2:n.*7319-82_*7319-70del
ENST00000219476.9:c.4570-82_4570-70del MANE Select ENSP00000219476.3:n.4570-82_4570-70del
ENST00000350773.9:c.4501-82_4501-70del ENSP00000344383.4:n.4501-82_4501-70del
ENST00000401874.7:c.4369-82_4369-70del ENSP00000384468.2:n.4369-82_4369-70del
ENST00000568454.6:c.4402-82_4402-70del ENSP00000454487.1:n.4402-82_4402-70del
ENST00000569110.2:c.793-82_793-70del
ENST00000569930.2:n.2452-82_2452-70del
ENST00000642365.1:c.3224-82_3224-70del
ENST00000642561.1:c.4441-82_4441-70del ENSP00000495099.1:n.4441-82_4441-70del
ENST00000642728.1:n.752-82_752-70del
ENST00000642791.1:n.85_97del
ENST00000642797.1:c.4372-82_4372-70del ENSP00000493846.1:n.4372-82_4372-70del
ENST00000642936.1:c.4438-82_4438-70del ENSP00000494514.1:n.4438-82_4438-70del
ENST00000643088.1:c.4369-88_4369-76del ENSP00000494747.1:n.4369-88_4369-76del
ENST00000643177.1:n.584-82_584-70del
ENST00000643426.1:n.2218-82_2218-70del
ENST00000643946.1:c.4501-88_4501-76del ENSP00000495927.1:n.4501-88_4501-76del
ENST00000644043.1:c.4441-82_4441-70del ENSP00000496262.1:n.4441-82_4441-70del
ENST00000644329.1:c.4369-82_4369-70del ENSP00000496611.1:n.4369-82_4369-70del
ENST00000644335.1:c.4372-88_4372-76del ENSP00000496317.1:n.4372-88_4372-76del
ENST00000644399.1:c.4491-82_4491-70del
ENST00000645024.1:n.2654-82_2654-70del
ENST00000646388.1:c.4570-88_4570-76del ENSP00000495921.1:n.4570-88_4570-76del
ENST00000646634.1:n.3385-82_3385-70del
ENST00000646674.1:n.1822-82_1822-70del
ENST00000647042.1:n.1793-82_1793-70del
ENST00000647180.1:n.1683-82_1683-70del
ENST00000219476.7:c.4570-82_4570-70del ENSP00000219476.3:n.4570-82_4570-70del
ENST00000350773.8:c.4501-82_4501-70del ENSP00000344383.4:n.4501-82_4501-70del
ENST00000382538.10:c.4225-82_4225-70del ENSP00000371978.6:n.4225-82_4225-70del
ENST00000401874.6:c.4369-82_4369-70del ENSP00000384468.2:n.4369-82_4369-70del
ENST00000439117.6:c.*3737-82_*3737-70del ENSP00000406980.2:n.*3737-82_*3737-70del
ENST00000439673.6:c.4261-82_4261-70del ENSP00000399232.2:n.4261-82_4261-70del
ENST00000497886.5:n.2328-82_2328-70del
ENST00000568454.5:c.4402-82_4402-70del ENSP00000454487.1:n.4402-82_4402-70del
ENST00000569110.1:c.752-82_752-70del
ENST00000569930.1:n.1685-82_1685-70del
NM_000548.3:c.4570-82_4570-70del , LRG_487t1:c.4570-82_4570-70del NP_000539.2:n.4570-82_4570-70del
NM_001077183.1:c.4369-82_4369-70del NP_001070651.1:n.4369-82_4369-70del
NM_001114382.1:c.4501-82_4501-70del NP_001107854.1:n.4501-82_4501-70del
XM_005255529.3:c.4441-82_4441-70del XP_005255586.2:n.4441-82_4441-70del
XM_005255531.3:c.4372-82_4372-70del XP_005255588.2:n.4372-82_4372-70del
XM_011522636.1:c.4624-82_4624-70del XP_011520938.1:n.4624-82_4624-70del
XM_011522637.1:c.4621-82_4621-70del XP_011520939.1:n.4621-82_4621-70del
XM_011522638.1:c.4513-82_4513-70del XP_011520940.1:n.4513-82_4513-70del
XM_011522639.1:c.4495-82_4495-70del XP_011520941.1:n.4495-82_4495-70del
XM_011522640.1:c.4492-82_4492-70del XP_011520942.1:n.4492-82_4492-70del
XM_011522641.1:c.4261-82_4261-70del XP_011520943.1:n.4261-82_4261-70del
NM_000548.4:c.4570-82_4570-70del NP_000539.2:n.4570-82_4570-70del
NM_001077183.2:c.4369-82_4369-70del NP_001070651.1:n.4369-82_4369-70del
NM_001114382.2:c.4501-82_4501-70del NP_001107854.1:n.4501-82_4501-70del
NM_001318827.1:c.4261-82_4261-70del NP_001305756.1:n.4261-82_4261-70del
NM_001318829.1:c.4225-82_4225-70del NP_001305758.1:n.4225-82_4225-70del
NM_001318831.1:c.3838-82_3838-70del NP_001305760.1:n.3838-82_3838-70del
NM_001318832.1:c.4402-82_4402-70del NP_001305761.1:n.4402-82_4402-70del
NM_001363528.1:c.4372-82_4372-70del NP_001350457.1:n.4372-82_4372-70del
NM_021055.2:c.4441-82_4441-70del NP_066399.2:n.4441-82_4441-70del
XM_005255531.4:c.4372-82_4372-70del XP_005255588.2:n.4372-82_4372-70del
XM_011522636.2:c.4624-82_4624-70del XP_011520938.1:n.4624-82_4624-70del
XM_011522637.2:c.4621-82_4621-70del XP_011520939.1:n.4621-82_4621-70del
XM_011522638.2:c.4786-82_4786-70del XP_011520940.2:n.4786-82_4786-70del
XM_011522639.2:c.4495-82_4495-70del XP_011520941.1:n.4495-82_4495-70del
XM_011522640.2:c.4492-82_4492-70del XP_011520942.1:n.4492-82_4492-70del
XM_017023615.1:c.4567-82_4567-70del XP_016879104.1:n.4567-82_4567-70del
XM_017023616.1:c.4438-82_4438-70del XP_016879105.1:n.4438-82_4438-70del
XM_017023617.1:c.4534-82_4534-70del XP_016879106.1:n.4534-82_4534-70del
XM_017023618.1:c.3280-82_3280-70del XP_016879107.1:n.3280-82_3280-70del
XM_024450413.1:c.4369-82_4369-70del XP_024306181.1:n.4369-82_4369-70del
NM_000548.5:c.4570-82_4570-70del MANE Select NP_000539.2:n.4570-82_4570-70del
NM_001370404.1:c.4438-82_4438-70del NP_001357333.1:n.4438-82_4438-70del
NM_001370405.1:c.4441-82_4441-70del NP_001357334.1:n.4441-82_4441-70del
NM_001077183.3:c.4369-82_4369-70del NP_001070651.1:n.4369-82_4369-70del
NM_001114382.3:c.4501-82_4501-70del NP_001107854.1:n.4501-82_4501-70del
NM_001318827.2:c.4261-82_4261-70del NP_001305756.1:n.4261-82_4261-70del
NM_001318829.2:c.4225-82_4225-70del NP_001305758.1:n.4225-82_4225-70del
NM_001318831.2:c.3838-82_3838-70del NP_001305760.1:n.3838-82_3838-70del
NM_001318832.2:c.4402-82_4402-70del NP_001305761.1:n.4402-82_4402-70del
NM_001363528.2:c.4372-82_4372-70del NP_001350457.1:n.4372-82_4372-70del
NM_021055.3:c.4441-82_4441-70del NP_066399.2:n.4441-82_4441-70del
Search 100 bp 5'
Search 100 bp 3'