Canonical Allele Identifier: CA2805573929
Gene: TSC2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088366_2088390del , CM000678.2:g.2088366_2088390del GRCh38
NC_000016.9:g.2138367_2138391del , CM000678.1:g.2138367_2138391del GRCh37
NC_000016.8:g.2078368_2078392del NCBI36
NG_005895.1:g.44061_44085del , LRG_487:g.44061_44085del
NG_008617.1:g.54832_54856del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3608+41_*3609-56del ENSP00000455997.2:n.*3608+41_*3609-56del
ENST00000642206.2:c.5106+41_5107-56del ENSP00000495146.2:n.5106+41_5107-56del
ENST00000642365.2:c.5256+41_5257-56del ENSP00000495459.2:n.5256+41_5257-56del
ENST00000644417.2:c.*5772+41_*5773-56del ENSP00000493912.2:n.*5772+41_*5773-56del
ENST00000646464.2:c.*8008+41_*8009-56del ENSP00000496610.2:n.*8008+41_*8009-56del
ENST00000219476.9:c.5259+41_5260-56del MANE Select ENSP00000219476.3:n.5259+41_5260-56del
ENST00000350773.9:c.5190+41_5191-56del ENSP00000344383.4:n.5190+41_5191-56del
ENST00000401874.7:c.5058+41_5059-56del ENSP00000384468.2:n.5058+41_5059-56del
ENST00000568454.6:c.5091+41_5092-56del ENSP00000454487.1:n.5091+41_5092-56del
ENST00000569110.2:c.1482+41_1483-56del
ENST00000569930.2:n.3141+41_3142-56del
ENST00000642365.1:c.3913+41_3914-56del
ENST00000642561.1:c.5118+41_5119-56del ENSP00000495099.1:n.5118+41_5119-56del
ENST00000642791.1:n.856+41_857-56del
ENST00000642797.1:c.5061+41_5062-56del ENSP00000493846.1:n.5061+41_5062-56del
ENST00000642936.1:c.5127+41_5128-56del ENSP00000494514.1:n.5127+41_5128-56del
ENST00000643088.1:c.5052+41_5053-56del ENSP00000494747.1:n.5052+41_5053-56del
ENST00000643426.1:n.2907+41_2908-56del
ENST00000643946.1:c.5184+41_5185-56del ENSP00000495927.1:n.5184+41_5185-56del
ENST00000644043.1:c.5130+41_5131-56del ENSP00000496262.1:n.5130+41_5131-56del
ENST00000644329.1:c.5145+41_5146-56del ENSP00000496611.1:n.5145+41_5146-56del
ENST00000644335.1:c.5055+41_5056-56del ENSP00000496317.1:n.5055+41_5056-56del
ENST00000644399.1:c.5180+41_5181-56del
ENST00000645024.1:n.3343+41_3344-56del
ENST00000646388.1:c.5253+41_5254-56del ENSP00000495921.1:n.5253+41_5254-56del
ENST00000646634.1:n.4074+41_4075-56del
ENST00000646674.1:n.2511+41_2512-56del
ENST00000647042.1:n.2482+41_2483-56del
ENST00000647180.1:n.2372+41_2373-56del
ENST00000219476.7:c.5259+41_5260-56del ENSP00000219476.3:n.5259+41_5260-56del
ENST00000350773.8:c.5190+41_5191-56del ENSP00000344383.4:n.5190+41_5191-56del
ENST00000382538.10:c.4914+41_4915-56del ENSP00000371978.6:n.4914+41_4915-56del
ENST00000401874.6:c.5058+41_5059-56del ENSP00000384468.2:n.5058+41_5059-56del
ENST00000439117.6:c.*4426+41_*4427-56del ENSP00000406980.2:n.*4426+41_*4427-56del
ENST00000439673.6:c.4950+41_4951-56del ENSP00000399232.2:n.4950+41_4951-56del
ENST00000497886.5:n.2982+41_2983-56del
ENST00000568454.5:c.5091+41_5092-56del ENSP00000454487.1:n.5091+41_5092-56del
ENST00000569110.1:c.1441+41_1442-56del
ENST00000569930.1:n.2374+41_2375-56del
NM_000548.3:c.5259+41_5260-56del , LRG_487t1:c.5259+41_5260-56del NP_000539.2:n.5259+41_5260-56del
NM_001077183.1:c.5058+41_5059-56del NP_001070651.1:n.5058+41_5059-56del
NM_001114382.1:c.5190+41_5191-56del NP_001107854.1:n.5190+41_5191-56del
XM_005255529.3:c.5130+41_5131-56del XP_005255586.2:n.5130+41_5131-56del
XM_005255531.3:c.5061+41_5062-56del XP_005255588.2:n.5061+41_5062-56del
XM_011522636.1:c.5313+41_5314-56del XP_011520938.1:n.5313+41_5314-56del
XM_011522637.1:c.5310+41_5311-56del XP_011520939.1:n.5310+41_5311-56del
XM_011522638.1:c.5202+41_5203-56del XP_011520940.1:n.5202+41_5203-56del
XM_011522639.1:c.5184+41_5185-56del XP_011520941.1:n.5184+41_5185-56del
XM_011522640.1:c.5181+41_5182-56del XP_011520942.1:n.5181+41_5182-56del
XM_011522641.1:c.4950+41_4951-56del XP_011520943.1:n.4950+41_4951-56del
NM_000548.4:c.5259+41_5260-56del NP_000539.2:n.5259+41_5260-56del
NM_001077183.2:c.5058+41_5059-56del NP_001070651.1:n.5058+41_5059-56del
NM_001114382.2:c.5190+41_5191-56del NP_001107854.1:n.5190+41_5191-56del
NM_001318827.1:c.4950+41_4951-56del NP_001305756.1:n.4950+41_4951-56del
NM_001318829.1:c.4914+41_4915-56del NP_001305758.1:n.4914+41_4915-56del
NM_001318831.1:c.4527+41_4528-56del NP_001305760.1:n.4527+41_4528-56del
NM_001318832.1:c.5091+41_5092-56del NP_001305761.1:n.5091+41_5092-56del
NM_001363528.1:c.5061+41_5062-56del NP_001350457.1:n.5061+41_5062-56del
NM_021055.2:c.5130+41_5131-56del NP_066399.2:n.5130+41_5131-56del
XM_005255531.4:c.5061+41_5062-56del XP_005255588.2:n.5061+41_5062-56del
XM_011522636.2:c.5313+41_5314-56del XP_011520938.1:n.5313+41_5314-56del
XM_011522637.2:c.5310+41_5311-56del XP_011520939.1:n.5310+41_5311-56del
XM_011522638.2:c.5475+41_5476-56del XP_011520940.2:n.5475+41_5476-56del
XM_011522639.2:c.5184+41_5185-56del XP_011520941.1:n.5184+41_5185-56del
XM_011522640.2:c.5181+41_5182-56del XP_011520942.1:n.5181+41_5182-56del
XM_017023615.1:c.5256+41_5257-56del XP_016879104.1:n.5256+41_5257-56del
XM_017023616.1:c.5127+41_5128-56del XP_016879105.1:n.5127+41_5128-56del
XM_017023617.1:c.5223+41_5224-56del XP_016879106.1:n.5223+41_5224-56del
XM_017023618.1:c.3969+41_3970-56del XP_016879107.1:n.3969+41_3970-56del
XM_024450413.1:c.5145+41_5146-56del XP_024306181.1:n.5145+41_5146-56del
NM_000548.5:c.5259+41_5260-56del MANE Select NP_000539.2:n.5259+41_5260-56del
NM_001370404.1:c.5127+41_5128-56del NP_001357333.1:n.5127+41_5128-56del
NM_001370405.1:c.5118+41_5119-56del NP_001357334.1:n.5118+41_5119-56del
NM_001077183.3:c.5058+41_5059-56del NP_001070651.1:n.5058+41_5059-56del
NM_001114382.3:c.5190+41_5191-56del NP_001107854.1:n.5190+41_5191-56del
NM_001318827.2:c.4950+41_4951-56del NP_001305756.1:n.4950+41_4951-56del
NM_001318829.2:c.4914+41_4915-56del NP_001305758.1:n.4914+41_4915-56del
NM_001318831.2:c.4527+41_4528-56del NP_001305760.1:n.4527+41_4528-56del
NM_001318832.2:c.5091+41_5092-56del NP_001305761.1:n.5091+41_5092-56del
NM_001363528.2:c.5061+41_5062-56del NP_001350457.1:n.5061+41_5062-56del
NM_021055.3:c.5130+41_5131-56del NP_066399.2:n.5130+41_5131-56del
Search 100 bp 5'
Search 100 bp 3'