Canonical Allele Identifier: CA2631118554

Gene: TSC2

Linked Data

• gnomAD v4: 16-2088268-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088268_2088269insC , CM000678.2:g.2088268_2088269insC	GRCh38
NC_000016.9:g.2138269_2138270insC , CM000678.1:g.2138269_2138270insC	GRCh37
NC_000016.8:g.2078270_2078271insC	NCBI36
NG_005895.1:g.43963_43964insC , LRG_487:g.43963_43964insC
NG_008617.1:g.54952_54953insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3551_*3552insC	ENSP00000455997.2:n.*3551_*3552insC
ENST00000642206.2:c.5049_5050insC	ENSP00000495146.2:p.Ile1684HisfsTer?
ENST00000642365.2:c.5199_5200insC	ENSP00000495459.2:p.Ile1734HisfsTer?
ENST00000644417.2:c.*5715_*5716insC	ENSP00000493912.2:n.*5715_*5716insC
ENST00000646464.2:c.*7951_*7952insC	ENSP00000496610.2:n.*7951_*7952insC
ENST00000219476.9:c.5202_5203insC MANE Select	ENSP00000219476.3:p.Ile1735HisfsTer?
ENST00000350773.9:c.5133_5134insC	ENSP00000344383.4:p.Ile1712HisfsTer?
ENST00000401874.7:c.5001_5002insC	ENSP00000384468.2:p.Ile1668HisfsTer?
ENST00000568454.6:c.5034_5035insC	ENSP00000454487.1:p.Ile1679HisfsTer?
ENST00000569110.2:c.1425_1426insC
ENST00000569930.2:n.3084_3085insC
ENST00000642365.1:c.3856_3857insC
ENST00000642561.1:c.5061_5062insC	ENSP00000495099.1:p.Ile1688HisfsTer?
ENST00000642791.1:n.799_800insC
ENST00000642797.1:c.5004_5005insC	ENSP00000493846.1:p.Ile1669HisfsTer?
ENST00000642936.1:c.5070_5071insC	ENSP00000494514.1:p.Ile1691HisfsTer?
ENST00000643088.1:c.4995_4996insC	ENSP00000494747.1:p.Ile1666HisfsTer?
ENST00000643426.1:n.2850_2851insC
ENST00000643946.1:c.5127_5128insC	ENSP00000495927.1:p.Ile1710HisfsTer?
ENST00000644043.1:c.5073_5074insC	ENSP00000496262.1:p.Ile1692HisfsTer?
ENST00000644329.1:c.5088_5089insC	ENSP00000496611.1:p.Ile1697HisfsTer?
ENST00000644335.1:c.4998_4999insC	ENSP00000496317.1:p.Ile1667HisfsTer?
ENST00000644399.1:c.5123_5124insC
ENST00000645024.1:n.3286_3287insC
ENST00000646388.1:c.5196_5197insC	ENSP00000495921.1:p.Ile1733HisfsTer?
ENST00000646634.1:n.4017_4018insC
ENST00000646674.1:n.2454_2455insC
ENST00000647042.1:n.2425_2426insC
ENST00000647180.1:n.2315_2316insC
ENST00000219476.7:c.5202_5203insC	ENSP00000219476.3:p.Ile1735HisfsTer?
ENST00000350773.8:c.5133_5134insC	ENSP00000344383.4:p.Ile1712HisfsTer?
ENST00000382538.10:c.4857_4858insC	ENSP00000371978.6:p.Ile1620HisfsTer?
ENST00000401874.6:c.5001_5002insC	ENSP00000384468.2:p.Ile1668HisfsTer?
ENST00000439117.6:c.*4369_*4370insC	ENSP00000406980.2:n.*4369_*4370insC
ENST00000439673.6:c.4893_4894insC	ENSP00000399232.2:p.Ile1632HisfsTer?
ENST00000497886.5:n.2925_2926insC
ENST00000568454.5:c.5034_5035insC	ENSP00000454487.1:p.Ile1679HisfsTer?
ENST00000569110.1:c.1384_1385insC
ENST00000569930.1:n.2317_2318insC
NM_000548.3:c.5202_5203insC , LRG_487t1:c.5202_5203insC	NP_000539.2:p.Ile1735HisfsTer?
NM_001077183.1:c.5001_5002insC	NP_001070651.1:p.Ile1668HisfsTer?
NM_001114382.1:c.5133_5134insC	NP_001107854.1:p.Ile1712HisfsTer?
XM_005255529.3:c.5073_5074insC	XP_005255586.2:p.Ile1692HisfsTer?
XM_005255531.3:c.5004_5005insC	XP_005255588.2:p.Ile1669HisfsTer?
XM_011522636.1:c.5256_5257insC	XP_011520938.1:p.Ile1753HisfsTer?
XM_011522637.1:c.5253_5254insC	XP_011520939.1:p.Ile1752HisfsTer?
XM_011522638.1:c.5145_5146insC	XP_011520940.1:p.Ile1716HisfsTer?
XM_011522639.1:c.5127_5128insC	XP_011520941.1:p.Ile1710HisfsTer?
XM_011522640.1:c.5124_5125insC	XP_011520942.1:p.Ile1709HisfsTer?
XM_011522641.1:c.4893_4894insC	XP_011520943.1:p.Ile1632HisfsTer?
NM_000548.4:c.5202_5203insC	NP_000539.2:p.Ile1735HisfsTer?
NM_001077183.2:c.5001_5002insC	NP_001070651.1:p.Ile1668HisfsTer?
NM_001114382.2:c.5133_5134insC	NP_001107854.1:p.Ile1712HisfsTer?
NM_001318827.1:c.4893_4894insC	NP_001305756.1:p.Ile1632HisfsTer?
NM_001318829.1:c.4857_4858insC	NP_001305758.1:p.Ile1620HisfsTer?
NM_001318831.1:c.4470_4471insC	NP_001305760.1:p.Ile1491HisfsTer?
NM_001318832.1:c.5034_5035insC	NP_001305761.1:p.Ile1679HisfsTer?
NM_001363528.1:c.5004_5005insC	NP_001350457.1:p.Ile1669HisfsTer?
NM_021055.2:c.5073_5074insC	NP_066399.2:p.Ile1692HisfsTer?
XM_005255531.4:c.5004_5005insC	XP_005255588.2:p.Ile1669HisfsTer?
XM_011522636.2:c.5256_5257insC	XP_011520938.1:p.Ile1753HisfsTer?
XM_011522637.2:c.5253_5254insC	XP_011520939.1:p.Ile1752HisfsTer?
XM_011522638.2:c.5418_5419insC	XP_011520940.2:p.Ile1807HisfsTer?
XM_011522639.2:c.5127_5128insC	XP_011520941.1:p.Ile1710HisfsTer?
XM_011522640.2:c.5124_5125insC	XP_011520942.1:p.Ile1709HisfsTer?
XM_017023615.1:c.5199_5200insC	XP_016879104.1:p.Ile1734HisfsTer?
XM_017023616.1:c.5070_5071insC	XP_016879105.1:p.Ile1691HisfsTer?
XM_017023617.1:c.5166_5167insC	XP_016879106.1:p.Ile1723HisfsTer?
XM_017023618.1:c.3912_3913insC	XP_016879107.1:p.Ile1305HisfsTer?
XM_024450413.1:c.5088_5089insC	XP_024306181.1:p.Ile1697HisfsTer?
NM_000548.5:c.5202_5203insC MANE Select	NP_000539.2:p.Ile1735HisfsTer?
NM_001370404.1:c.5070_5071insC	NP_001357333.1:p.Ile1691HisfsTer?
NM_001370405.1:c.5061_5062insC	NP_001357334.1:p.Ile1688HisfsTer?
NM_001077183.3:c.5001_5002insC	NP_001070651.1:p.Ile1668HisfsTer?
NM_001114382.3:c.5133_5134insC	NP_001107854.1:p.Ile1712HisfsTer?
NM_001318827.2:c.4893_4894insC	NP_001305756.1:p.Ile1632HisfsTer?
NM_001318829.2:c.4857_4858insC	NP_001305758.1:p.Ile1620HisfsTer?
NM_001318831.2:c.4470_4471insC	NP_001305760.1:p.Ile1491HisfsTer?
NM_001318832.2:c.5034_5035insC	NP_001305761.1:p.Ile1679HisfsTer?
NM_001363528.2:c.5004_5005insC	NP_001350457.1:p.Ile1669HisfsTer?
NM_021055.3:c.5073_5074insC	NP_066399.2:p.Ile1692HisfsTer?