Canonical Allele Identifier: CA973770579

Gene: TSC2

Linked Data

• gnomAD v3: 16-2088242-C-CTTTTTTTA
• gnomAD v4: 16-2088242-C-CTTTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088242_2088243insTTTTTTTA , CM000678.2:g.2088242_2088243insTTTTTTTA	GRCh38
NC_000016.9:g.2138243_2138244insTTTTTTTA , CM000678.1:g.2138243_2138244insTTTTTTTA	GRCh37
NC_000016.8:g.2078244_2078245insTTTTTTTA	NCBI36
NG_005895.1:g.43937_43938insTTTTTTTA , LRG_487:g.43937_43938insTTTTTTTA
NG_008617.1:g.54978_54979insTAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3525_*3526insTTTTTTTA	ENSP00000455997.2:n.*3525_*3526insTTTTTTTA
ENST00000642206.2:c.5023_5024insTTTTTTTA	ENSP00000495146.2:p.His1675LeufsTer?
ENST00000642365.2:c.5173_5174insTTTTTTTA	ENSP00000495459.2:p.His1725LeufsTer?
ENST00000644417.2:c.*5689_*5690insTTTTTTTA	ENSP00000493912.2:n.*5689_*5690insTTTTTTTA
ENST00000646464.2:c.*7925_*7926insTTTTTTTA	ENSP00000496610.2:n.*7925_*7926insTTTTTTTA
ENST00000219476.9:c.5176_5177insTTTTTTTA MANE Select	ENSP00000219476.3:p.His1726LeufsTer?
ENST00000350773.9:c.5107_5108insTTTTTTTA	ENSP00000344383.4:p.His1703LeufsTer?
ENST00000401874.7:c.4975_4976insTTTTTTTA	ENSP00000384468.2:p.His1659LeufsTer?
ENST00000568454.6:c.5008_5009insTTTTTTTA	ENSP00000454487.1:p.His1670LeufsTer?
ENST00000569110.2:c.1399_1400insTTTTTTTA
ENST00000569930.2:n.3058_3059insTTTTTTTA
ENST00000642365.1:c.3830_3831insTTTTTTTA
ENST00000642561.1:c.5035_5036insTTTTTTTA	ENSP00000495099.1:p.His1679LeufsTer?
ENST00000642791.1:n.773_774insTTTTTTTA
ENST00000642797.1:c.4978_4979insTTTTTTTA	ENSP00000493846.1:p.His1660LeufsTer?
ENST00000642936.1:c.5044_5045insTTTTTTTA	ENSP00000494514.1:p.His1682LeufsTer?
ENST00000643088.1:c.4969_4970insTTTTTTTA	ENSP00000494747.1:p.His1657LeufsTer?
ENST00000643426.1:n.2824_2825insTTTTTTTA
ENST00000643946.1:c.5101_5102insTTTTTTTA	ENSP00000495927.1:p.His1701LeufsTer?
ENST00000644043.1:c.5047_5048insTTTTTTTA	ENSP00000496262.1:p.His1683LeufsTer?
ENST00000644329.1:c.5062_5063insTTTTTTTA	ENSP00000496611.1:p.His1688LeufsTer?
ENST00000644335.1:c.4972_4973insTTTTTTTA	ENSP00000496317.1:p.His1658LeufsTer?
ENST00000644399.1:c.5097_5098insTTTTTTTA
ENST00000645024.1:n.3260_3261insTTTTTTTA
ENST00000646388.1:c.5170_5171insTTTTTTTA	ENSP00000495921.1:p.His1724LeufsTer?
ENST00000646634.1:n.3991_3992insTTTTTTTA
ENST00000646674.1:n.2428_2429insTTTTTTTA
ENST00000647042.1:n.2399_2400insTTTTTTTA
ENST00000647180.1:n.2289_2290insTTTTTTTA
ENST00000219476.7:c.5176_5177insTTTTTTTA	ENSP00000219476.3:p.His1726LeufsTer?
ENST00000350773.8:c.5107_5108insTTTTTTTA	ENSP00000344383.4:p.His1703LeufsTer?
ENST00000382538.10:c.4831_4832insTTTTTTTA	ENSP00000371978.6:p.His1611LeufsTer?
ENST00000401874.6:c.4975_4976insTTTTTTTA	ENSP00000384468.2:p.His1659LeufsTer?
ENST00000439117.6:c.*4343_*4344insTTTTTTTA	ENSP00000406980.2:n.*4343_*4344insTTTTTTTA
ENST00000439673.6:c.4867_4868insTTTTTTTA	ENSP00000399232.2:p.His1623LeufsTer?
ENST00000497886.5:n.2899_2900insTTTTTTTA
ENST00000568454.5:c.5008_5009insTTTTTTTA	ENSP00000454487.1:p.His1670LeufsTer?
ENST00000569110.1:c.1358_1359insTTTTTTTA
ENST00000569930.1:n.2291_2292insTTTTTTTA
NM_000548.3:c.5176_5177insTTTTTTTA , LRG_487t1:c.5176_5177insTTTTTTTA	NP_000539.2:p.His1726LeufsTer?
NM_001077183.1:c.4975_4976insTTTTTTTA	NP_001070651.1:p.His1659LeufsTer?
NM_001114382.1:c.5107_5108insTTTTTTTA	NP_001107854.1:p.His1703LeufsTer?
XM_005255529.3:c.5047_5048insTTTTTTTA	XP_005255586.2:p.His1683LeufsTer?
XM_005255531.3:c.4978_4979insTTTTTTTA	XP_005255588.2:p.His1660LeufsTer?
XM_011522636.1:c.5230_5231insTTTTTTTA	XP_011520938.1:p.His1744LeufsTer?
XM_011522637.1:c.5227_5228insTTTTTTTA	XP_011520939.1:p.His1743LeufsTer?
XM_011522638.1:c.5119_5120insTTTTTTTA	XP_011520940.1:p.His1707LeufsTer?
XM_011522639.1:c.5101_5102insTTTTTTTA	XP_011520941.1:p.His1701LeufsTer?
XM_011522640.1:c.5098_5099insTTTTTTTA	XP_011520942.1:p.His1700LeufsTer?
XM_011522641.1:c.4867_4868insTTTTTTTA	XP_011520943.1:p.His1623LeufsTer?
NM_000548.4:c.5176_5177insTTTTTTTA	NP_000539.2:p.His1726LeufsTer?
NM_001077183.2:c.4975_4976insTTTTTTTA	NP_001070651.1:p.His1659LeufsTer?
NM_001114382.2:c.5107_5108insTTTTTTTA	NP_001107854.1:p.His1703LeufsTer?
NM_001318827.1:c.4867_4868insTTTTTTTA	NP_001305756.1:p.His1623LeufsTer?
NM_001318829.1:c.4831_4832insTTTTTTTA	NP_001305758.1:p.His1611LeufsTer?
NM_001318831.1:c.4444_4445insTTTTTTTA	NP_001305760.1:p.His1482LeufsTer?
NM_001318832.1:c.5008_5009insTTTTTTTA	NP_001305761.1:p.His1670LeufsTer?
NM_001363528.1:c.4978_4979insTTTTTTTA	NP_001350457.1:p.His1660LeufsTer?
NM_021055.2:c.5047_5048insTTTTTTTA	NP_066399.2:p.His1683LeufsTer?
XM_005255531.4:c.4978_4979insTTTTTTTA	XP_005255588.2:p.His1660LeufsTer?
XM_011522636.2:c.5230_5231insTTTTTTTA	XP_011520938.1:p.His1744LeufsTer?
XM_011522637.2:c.5227_5228insTTTTTTTA	XP_011520939.1:p.His1743LeufsTer?
XM_011522638.2:c.5392_5393insTTTTTTTA	XP_011520940.2:p.His1798LeufsTer?
XM_011522639.2:c.5101_5102insTTTTTTTA	XP_011520941.1:p.His1701LeufsTer?
XM_011522640.2:c.5098_5099insTTTTTTTA	XP_011520942.1:p.His1700LeufsTer?
XM_017023615.1:c.5173_5174insTTTTTTTA	XP_016879104.1:p.His1725LeufsTer?
XM_017023616.1:c.5044_5045insTTTTTTTA	XP_016879105.1:p.His1682LeufsTer?
XM_017023617.1:c.5140_5141insTTTTTTTA	XP_016879106.1:p.His1714LeufsTer?
XM_017023618.1:c.3886_3887insTTTTTTTA	XP_016879107.1:p.His1296LeufsTer?
XM_024450413.1:c.5062_5063insTTTTTTTA	XP_024306181.1:p.His1688LeufsTer?
NM_000548.5:c.5176_5177insTTTTTTTA MANE Select	NP_000539.2:p.His1726LeufsTer?
NM_001370404.1:c.5044_5045insTTTTTTTA	NP_001357333.1:p.His1682LeufsTer?
NM_001370405.1:c.5035_5036insTTTTTTTA	NP_001357334.1:p.His1679LeufsTer?
NM_001077183.3:c.4975_4976insTTTTTTTA	NP_001070651.1:p.His1659LeufsTer?
NM_001114382.3:c.5107_5108insTTTTTTTA	NP_001107854.1:p.His1703LeufsTer?
NM_001318827.2:c.4867_4868insTTTTTTTA	NP_001305756.1:p.His1623LeufsTer?
NM_001318829.2:c.4831_4832insTTTTTTTA	NP_001305758.1:p.His1611LeufsTer?
NM_001318831.2:c.4444_4445insTTTTTTTA	NP_001305760.1:p.His1482LeufsTer?
NM_001318832.2:c.5008_5009insTTTTTTTA	NP_001305761.1:p.His1670LeufsTer?
NM_001363528.2:c.4978_4979insTTTTTTTA	NP_001350457.1:p.His1660LeufsTer?
NM_021055.3:c.5047_5048insTTTTTTTA	NP_066399.2:p.His1683LeufsTer?