Canonical Allele Identifier: CA620705133

Gene: TSC2

Linked Data

• gnomAD v2: 16-2138523-A-ACGGC
• gnomAD v4: 16-2088522-A-ACGGC
• MyVariant Identifiers: chr16:g.2138523_2138524insCGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088522_2088523insCGGC , CM000678.2:g.2088522_2088523insCGGC	GRCh38
NC_000016.9:g.2138523_2138524insCGGC , CM000678.1:g.2138523_2138524insCGGC	GRCh37
NC_000016.8:g.2078524_2078525insCGGC	NCBI36
NG_005895.1:g.44217_44218insCGGC , LRG_487:g.44217_44218insCGGC
NG_008617.1:g.54698_54699insGCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3685_*3686insCGGC	ENSP00000455997.2:n.*3685_*3686insCGGC
ENST00000642206.2:c.5183_5184insCGGC	ENSP00000495146.2:p.Gln1728HisfsTer12
ENST00000642365.2:c.5333_5334insCGGC	ENSP00000495459.2:p.Gln1778HisfsTer12
ENST00000644417.2:c.*5849_*5850insCGGC	ENSP00000493912.2:n.*5849_*5850insCGGC
ENST00000646464.2:c.*8085_*8086insCGGC	ENSP00000496610.2:n.*8085_*8086insCGGC
ENST00000219476.9:c.5336_5337insCGGC MANE Select	ENSP00000219476.3:p.Gln1779HisfsTer12
ENST00000350773.9:c.5267_5268insCGGC	ENSP00000344383.4:p.Gln1756HisfsTer12
ENST00000401874.7:c.5135_5136insCGGC	ENSP00000384468.2:p.Gln1712HisfsTer12
ENST00000568454.6:c.5168_5169insCGGC	ENSP00000454487.1:p.Gln1723HisfsTer12
ENST00000569110.2:c.1559_1560insCGGC
ENST00000569930.2:n.3218_3219insCGGC
ENST00000642365.1:c.3990_3991insCGGC
ENST00000642561.1:c.5195_5196insCGGC	ENSP00000495099.1:p.Gln1732HisfsTer12
ENST00000642791.1:n.933_934insCGGC
ENST00000642797.1:c.5138_5139insCGGC	ENSP00000493846.1:p.Gln1713HisfsTer12
ENST00000642936.1:c.5204_5205insCGGC	ENSP00000494514.1:p.Gln1735HisfsTer12
ENST00000643088.1:c.5129_5130insCGGC	ENSP00000494747.1:p.Gln1710HisfsTer12
ENST00000643426.1:n.2984_2985insCGGC
ENST00000643946.1:c.5261_5262insCGGC	ENSP00000495927.1:p.Gln1754HisfsTer12
ENST00000644043.1:c.5207_5208insCGGC	ENSP00000496262.1:p.Gln1736HisfsTer12
ENST00000644329.1:c.5222_5223insCGGC	ENSP00000496611.1:p.Gln1741HisfsTer12
ENST00000644335.1:c.5132_5133insCGGC	ENSP00000496317.1:p.Gln1711HisfsTer12
ENST00000644399.1:c.5257_5258insCGGC
ENST00000645024.1:n.3420_3421insCGGC
ENST00000646388.1:c.5330_5331insCGGC	ENSP00000495921.1:p.Gln1777HisfsTer12
ENST00000646634.1:n.4151_4152insCGGC
ENST00000646674.1:n.2588_2589insCGGC
ENST00000647042.1:n.2559_2560insCGGC
ENST00000647180.1:n.2449_2450insCGGC
ENST00000219476.7:c.5336_5337insCGGC	ENSP00000219476.3:p.Gln1779HisfsTer12
ENST00000350773.8:c.5267_5268insCGGC	ENSP00000344383.4:p.Gln1756HisfsTer12
ENST00000382538.10:c.4991_4992insCGGC	ENSP00000371978.6:p.Gln1664HisfsTer12
ENST00000401874.6:c.5135_5136insCGGC	ENSP00000384468.2:p.Gln1712HisfsTer12
ENST00000439117.6:c.*4503_*4504insCGGC	ENSP00000406980.2:n.*4503_*4504insCGGC
ENST00000439673.6:c.5027_5028insCGGC	ENSP00000399232.2:p.Gln1676HisfsTer12
ENST00000497886.5:n.3059_3060insCGGC
ENST00000568454.5:c.5168_5169insCGGC	ENSP00000454487.1:p.Gln1723HisfsTer12
ENST00000569110.1:c.1518_1519insCGGC
ENST00000569930.1:n.2451_2452insCGGC
NM_000548.3:c.5336_5337insCGGC , LRG_487t1:c.5336_5337insCGGC	NP_000539.2:p.Gln1779HisfsTer12
NM_001077183.1:c.5135_5136insCGGC	NP_001070651.1:p.Gln1712HisfsTer12
NM_001114382.1:c.5267_5268insCGGC	NP_001107854.1:p.Gln1756HisfsTer12
XM_005255529.3:c.5207_5208insCGGC	XP_005255586.2:p.Gln1736HisfsTer12
XM_005255531.3:c.5138_5139insCGGC	XP_005255588.2:p.Gln1713HisfsTer12
XM_011522636.1:c.5390_5391insCGGC	XP_011520938.1:p.Gln1797HisfsTer12
XM_011522637.1:c.5387_5388insCGGC	XP_011520939.1:p.Gln1796HisfsTer12
XM_011522638.1:c.5279_5280insCGGC	XP_011520940.1:p.Gln1760HisfsTer12
XM_011522639.1:c.5261_5262insCGGC	XP_011520941.1:p.Gln1754HisfsTer12
XM_011522640.1:c.5258_5259insCGGC	XP_011520942.1:p.Gln1753HisfsTer12
XM_011522641.1:c.5027_5028insCGGC	XP_011520943.1:p.Gln1676HisfsTer12
NM_000548.4:c.5336_5337insCGGC	NP_000539.2:p.Gln1779HisfsTer12
NM_001077183.2:c.5135_5136insCGGC	NP_001070651.1:p.Gln1712HisfsTer12
NM_001114382.2:c.5267_5268insCGGC	NP_001107854.1:p.Gln1756HisfsTer12
NM_001318827.1:c.5027_5028insCGGC	NP_001305756.1:p.Gln1676HisfsTer12
NM_001318829.1:c.4991_4992insCGGC	NP_001305758.1:p.Gln1664HisfsTer12
NM_001318831.1:c.4604_4605insCGGC	NP_001305760.1:p.Gln1535HisfsTer12
NM_001318832.1:c.5168_5169insCGGC	NP_001305761.1:p.Gln1723HisfsTer12
NM_001363528.1:c.5138_5139insCGGC	NP_001350457.1:p.Gln1713HisfsTer12
NM_021055.2:c.5207_5208insCGGC	NP_066399.2:p.Gln1736HisfsTer12
XM_005255531.4:c.5138_5139insCGGC	XP_005255588.2:p.Gln1713HisfsTer12
XM_011522636.2:c.5390_5391insCGGC	XP_011520938.1:p.Gln1797HisfsTer12
XM_011522637.2:c.5387_5388insCGGC	XP_011520939.1:p.Gln1796HisfsTer12
XM_011522638.2:c.5552_5553insCGGC	XP_011520940.2:p.Gln1851HisfsTer12
XM_011522639.2:c.5261_5262insCGGC	XP_011520941.1:p.Gln1754HisfsTer12
XM_011522640.2:c.5258_5259insCGGC	XP_011520942.1:p.Gln1753HisfsTer12
XM_017023615.1:c.5333_5334insCGGC	XP_016879104.1:p.Gln1778HisfsTer12
XM_017023616.1:c.5204_5205insCGGC	XP_016879105.1:p.Gln1735HisfsTer12
XM_017023617.1:c.5300_5301insCGGC	XP_016879106.1:p.Gln1767HisfsTer12
XM_017023618.1:c.4046_4047insCGGC	XP_016879107.1:p.Gln1349HisfsTer12
XM_024450413.1:c.5222_5223insCGGC	XP_024306181.1:p.Gln1741HisfsTer12
NM_000548.5:c.5336_5337insCGGC MANE Select	NP_000539.2:p.Gln1779HisfsTer12
NM_001370404.1:c.5204_5205insCGGC	NP_001357333.1:p.Gln1735HisfsTer12
NM_001370405.1:c.5195_5196insCGGC	NP_001357334.1:p.Gln1732HisfsTer12
NM_001077183.3:c.5135_5136insCGGC	NP_001070651.1:p.Gln1712HisfsTer12
NM_001114382.3:c.5267_5268insCGGC	NP_001107854.1:p.Gln1756HisfsTer12
NM_001318827.2:c.5027_5028insCGGC	NP_001305756.1:p.Gln1676HisfsTer12
NM_001318829.2:c.4991_4992insCGGC	NP_001305758.1:p.Gln1664HisfsTer12
NM_001318831.2:c.4604_4605insCGGC	NP_001305760.1:p.Gln1535HisfsTer12
NM_001318832.2:c.5168_5169insCGGC	NP_001305761.1:p.Gln1723HisfsTer12
NM_001363528.2:c.5138_5139insCGGC	NP_001350457.1:p.Gln1713HisfsTer12
NM_021055.3:c.5207_5208insCGGC	NP_066399.2:p.Gln1736HisfsTer12