Canonical Allele Identifier: CA3057286430
Community Standard Title: NM_000548.5(TSC2):c.5260-20_5260-6del
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088426_2088440del , CM000678.2:g.2088426_2088440del GRCh38
NC_000016.9:g.2138427_2138441del , CM000678.1:g.2138427_2138441del GRCh37
NC_000016.8:g.2078428_2078442del NCBI36
NG_005895.1:g.44121_44135del , LRG_487:g.44121_44135del
NG_008617.1:g.54786_54800del

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5260-20_5260-6del MANE Select NP_000539.2:n.5260-20_5260-6del
ENST00000219476.9:c.5260-20_5260-6del MANE Select ENSP00000219476.3:n.5260-20_5260-6del
NM_000548.3:c.5260-20_5260-6del , LRG_487t1:c.5260-20_5260-6del NP_000539.2:n.5260-20_5260-6del
NM_000548.4:c.5260-20_5260-6del NP_000539.2:n.5260-20_5260-6del
NM_001077183.1:c.5059-20_5059-6del NP_001070651.1:n.5059-20_5059-6del
NM_001077183.2:c.5059-20_5059-6del NP_001070651.1:n.5059-20_5059-6del
NM_001077183.3:c.5059-20_5059-6del NP_001070651.1:n.5059-20_5059-6del
NM_001114382.1:c.5191-20_5191-6del NP_001107854.1:n.5191-20_5191-6del
NM_001114382.2:c.5191-20_5191-6del NP_001107854.1:n.5191-20_5191-6del
NM_001114382.3:c.5191-20_5191-6del NP_001107854.1:n.5191-20_5191-6del
NM_001318827.1:c.4951-20_4951-6del NP_001305756.1:n.4951-20_4951-6del
NM_001318827.2:c.4951-20_4951-6del NP_001305756.1:n.4951-20_4951-6del
NM_001318829.1:c.4915-20_4915-6del NP_001305758.1:n.4915-20_4915-6del
NM_001318829.2:c.4915-20_4915-6del NP_001305758.1:n.4915-20_4915-6del
NM_001318831.1:c.4528-20_4528-6del NP_001305760.1:n.4528-20_4528-6del
NM_001318831.2:c.4528-20_4528-6del NP_001305760.1:n.4528-20_4528-6del
NM_001318832.1:c.5092-20_5092-6del NP_001305761.1:n.5092-20_5092-6del
NM_001318832.2:c.5092-20_5092-6del NP_001305761.1:n.5092-20_5092-6del
NM_001363528.1:c.5062-20_5062-6del NP_001350457.1:n.5062-20_5062-6del
NM_001363528.2:c.5062-20_5062-6del NP_001350457.1:n.5062-20_5062-6del
NM_001370404.1:c.5128-20_5128-6del NP_001357333.1:n.5128-20_5128-6del
NM_001370405.1:c.5119-20_5119-6del NP_001357334.1:n.5119-20_5119-6del
NM_021055.2:c.5131-20_5131-6del NP_066399.2:n.5131-20_5131-6del
NM_021055.3:c.5131-20_5131-6del NP_066399.2:n.5131-20_5131-6del
ENST00000219476.7:c.5260-20_5260-6del ENSP00000219476.3:n.5260-20_5260-6del
ENST00000350773.8:c.5191-20_5191-6del ENSP00000344383.4:n.5191-20_5191-6del
ENST00000350773.9:c.5191-20_5191-6del ENSP00000344383.4:n.5191-20_5191-6del
ENST00000382538.10:c.4915-20_4915-6del ENSP00000371978.6:n.4915-20_4915-6del
ENST00000401874.6:c.5059-20_5059-6del ENSP00000384468.2:n.5059-20_5059-6del
ENST00000401874.7:c.5059-20_5059-6del ENSP00000384468.2:n.5059-20_5059-6del
ENST00000439117.6:c.*4427-20_*4427-6del ENSP00000406980.2:n.*4427-20_*4427-6del
ENST00000439673.6:c.4951-20_4951-6del ENSP00000399232.2:n.4951-20_4951-6del
ENST00000497886.5:n.2983-20_2983-6del
ENST00000568454.5:c.5092-20_5092-6del ENSP00000454487.1:n.5092-20_5092-6del
ENST00000568454.6:c.5092-20_5092-6del ENSP00000454487.1:n.5092-20_5092-6del
ENST00000568566.6:c.*3609-20_*3609-6del ENSP00000455997.2:n.*3609-20_*3609-6del
ENST00000569110.1:c.1442-20_1442-6del
ENST00000569110.2:c.1483-20_1483-6del
ENST00000569930.1:n.2375-20_2375-6del
ENST00000569930.2:n.3142-20_3142-6del
ENST00000642206.2:c.5107-20_5107-6del ENSP00000495146.2:n.5107-20_5107-6del
ENST00000642365.1:c.3914-20_3914-6del
ENST00000642365.2:c.5257-20_5257-6del ENSP00000495459.2:n.5257-20_5257-6del
ENST00000642561.1:c.5119-20_5119-6del ENSP00000495099.1:n.5119-20_5119-6del
ENST00000642791.1:n.857-20_857-6del
ENST00000642797.1:c.5062-20_5062-6del ENSP00000493846.1:n.5062-20_5062-6del
ENST00000642936.1:c.5128-20_5128-6del ENSP00000494514.1:n.5128-20_5128-6del
ENST00000643088.1:c.5053-20_5053-6del ENSP00000494747.1:n.5053-20_5053-6del
ENST00000643426.1:n.2908-20_2908-6del
ENST00000643946.1:c.5185-20_5185-6del ENSP00000495927.1:n.5185-20_5185-6del
ENST00000644043.1:c.5131-20_5131-6del ENSP00000496262.1:n.5131-20_5131-6del
ENST00000644329.1:c.5146-20_5146-6del ENSP00000496611.1:n.5146-20_5146-6del
ENST00000644335.1:c.5056-20_5056-6del ENSP00000496317.1:n.5056-20_5056-6del
ENST00000644399.1:c.5181-20_5181-6del
ENST00000644417.2:c.*5773-20_*5773-6del ENSP00000493912.2:n.*5773-20_*5773-6del
ENST00000645024.1:n.3344-20_3344-6del
ENST00000646388.1:c.5254-20_5254-6del ENSP00000495921.1:n.5254-20_5254-6del
ENST00000646464.2:c.*8009-20_*8009-6del ENSP00000496610.2:n.*8009-20_*8009-6del
ENST00000646634.1:n.4075-20_4075-6del
ENST00000646674.1:n.2512-20_2512-6del
ENST00000647042.1:n.2483-20_2483-6del
ENST00000647180.1:n.2373-20_2373-6del
XM_005255529.3:c.5131-20_5131-6del XP_005255586.2:n.5131-20_5131-6del
XM_005255531.3:c.5062-20_5062-6del XP_005255588.2:n.5062-20_5062-6del
XM_005255531.4:c.5062-20_5062-6del XP_005255588.2:n.5062-20_5062-6del
XM_011522636.1:c.5314-20_5314-6del XP_011520938.1:n.5314-20_5314-6del
XM_011522636.2:c.5314-20_5314-6del XP_011520938.1:n.5314-20_5314-6del
XM_011522637.1:c.5311-20_5311-6del XP_011520939.1:n.5311-20_5311-6del
XM_011522637.2:c.5311-20_5311-6del XP_011520939.1:n.5311-20_5311-6del
XM_011522638.1:c.5203-20_5203-6del XP_011520940.1:n.5203-20_5203-6del
XM_011522638.2:c.5476-20_5476-6del XP_011520940.2:n.5476-20_5476-6del
XM_011522639.1:c.5185-20_5185-6del XP_011520941.1:n.5185-20_5185-6del
XM_011522639.2:c.5185-20_5185-6del XP_011520941.1:n.5185-20_5185-6del
XM_011522640.1:c.5182-20_5182-6del XP_011520942.1:n.5182-20_5182-6del
XM_011522640.2:c.5182-20_5182-6del XP_011520942.1:n.5182-20_5182-6del
XM_011522641.1:c.4951-20_4951-6del XP_011520943.1:n.4951-20_4951-6del
XM_017023615.1:c.5257-20_5257-6del XP_016879104.1:n.5257-20_5257-6del
XM_017023616.1:c.5128-20_5128-6del XP_016879105.1:n.5128-20_5128-6del
XM_017023617.1:c.5224-20_5224-6del XP_016879106.1:n.5224-20_5224-6del
XM_017023618.1:c.3970-20_3970-6del XP_016879107.1:n.3970-20_3970-6del
XM_024450413.1:c.5146-20_5146-6del XP_024306181.1:n.5146-20_5146-6del
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