Canonical Allele Identifier: CA2839343686

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088552del , CM000678.2:g.2088552del	GRCh38
NC_000016.9:g.2138553del , CM000678.1:g.2138553del	GRCh37
NC_000016.8:g.2078554del	NCBI36
NG_005895.1:g.44247del , LRG_487:g.44247del
NG_008617.1:g.54669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3715del	ENSP00000455997.2:n.*3715del
ENST00000642206.2:c.5213del	ENSP00000495146.2:p.Glu1738GlyfsTer?
ENST00000642365.2:c.5363del	ENSP00000495459.2:p.Glu1788GlyfsTer?
ENST00000644417.2:c.*5879del	ENSP00000493912.2:n.*5879del
ENST00000646464.2:c.*8115del	ENSP00000496610.2:n.*8115del
ENST00000219476.9:c.5366del MANE Select	ENSP00000219476.3:p.Glu1789GlyfsTer?
ENST00000350773.9:c.5297del	ENSP00000344383.4:p.Glu1766GlyfsTer?
ENST00000401874.7:c.5165del	ENSP00000384468.2:p.Glu1722GlyfsTer?
ENST00000568454.6:c.5198del	ENSP00000454487.1:p.Glu1733GlyfsTer?
ENST00000569110.2:c.1589del
ENST00000569930.2:n.3248del
ENST00000642365.1:c.4020del
ENST00000642561.1:c.5225del	ENSP00000495099.1:p.Glu1742GlyfsTer?
ENST00000642791.1:n.963del
ENST00000642797.1:c.5168del	ENSP00000493846.1:p.Glu1723GlyfsTer?
ENST00000642936.1:c.5234del	ENSP00000494514.1:p.Glu1745GlyfsTer?
ENST00000643088.1:c.5159del	ENSP00000494747.1:p.Glu1720GlyfsTer?
ENST00000643426.1:n.3014del
ENST00000643946.1:c.5291del	ENSP00000495927.1:p.Glu1764GlyfsTer?
ENST00000644043.1:c.5237del	ENSP00000496262.1:p.Glu1746GlyfsTer?
ENST00000644329.1:c.5252del	ENSP00000496611.1:p.Glu1751GlyfsTer?
ENST00000644335.1:c.5162del	ENSP00000496317.1:p.Glu1721GlyfsTer?
ENST00000644399.1:c.5287del
ENST00000645024.1:n.3450del
ENST00000646388.1:c.5360del	ENSP00000495921.1:p.Glu1787GlyfsTer?
ENST00000646634.1:n.4181del
ENST00000646674.1:n.2618del
ENST00000647042.1:n.2589del
ENST00000647180.1:n.2479del
ENST00000219476.7:c.5366del	ENSP00000219476.3:p.Glu1789GlyfsTer?
ENST00000350773.8:c.5297del	ENSP00000344383.4:p.Glu1766GlyfsTer?
ENST00000382538.10:c.5021del	ENSP00000371978.6:p.Glu1674GlyfsTer?
ENST00000401874.6:c.5165del	ENSP00000384468.2:p.Glu1722GlyfsTer?
ENST00000439117.6:c.*4533del	ENSP00000406980.2:n.*4533del
ENST00000439673.6:c.5057del	ENSP00000399232.2:p.Glu1686GlyfsTer?
ENST00000497886.5:n.3089del
ENST00000568454.5:c.5198del	ENSP00000454487.1:p.Glu1733GlyfsTer?
ENST00000569110.1:c.1548del
ENST00000569930.1:n.2481del
NM_000548.3:c.5366del , LRG_487t1:c.5366del	NP_000539.2:p.Glu1789GlyfsTer?
NM_001077183.1:c.5165del	NP_001070651.1:p.Glu1722GlyfsTer?
NM_001114382.1:c.5297del	NP_001107854.1:p.Glu1766GlyfsTer?
XM_005255529.3:c.5237del	XP_005255586.2:p.Glu1746GlyfsTer?
XM_005255531.3:c.5168del	XP_005255588.2:p.Glu1723GlyfsTer?
XM_011522636.1:c.5420del	XP_011520938.1:p.Glu1807GlyfsTer?
XM_011522637.1:c.5417del	XP_011520939.1:p.Glu1806GlyfsTer?
XM_011522638.1:c.5309del	XP_011520940.1:p.Glu1770GlyfsTer?
XM_011522639.1:c.5291del	XP_011520941.1:p.Glu1764GlyfsTer?
XM_011522640.1:c.5288del	XP_011520942.1:p.Glu1763GlyfsTer?
XM_011522641.1:c.5057del	XP_011520943.1:p.Glu1686GlyfsTer?
NM_000548.4:c.5366del	NP_000539.2:p.Glu1789GlyfsTer?
NM_001077183.2:c.5165del	NP_001070651.1:p.Glu1722GlyfsTer?
NM_001114382.2:c.5297del	NP_001107854.1:p.Glu1766GlyfsTer?
NM_001318827.1:c.5057del	NP_001305756.1:p.Glu1686GlyfsTer?
NM_001318829.1:c.5021del	NP_001305758.1:p.Glu1674GlyfsTer?
NM_001318831.1:c.4634del	NP_001305760.1:p.Glu1545GlyfsTer?
NM_001318832.1:c.5198del	NP_001305761.1:p.Glu1733GlyfsTer?
NM_001363528.1:c.5168del	NP_001350457.1:p.Glu1723GlyfsTer?
NM_021055.2:c.5237del	NP_066399.2:p.Glu1746GlyfsTer?
XM_005255531.4:c.5168del	XP_005255588.2:p.Glu1723GlyfsTer?
XM_011522636.2:c.5420del	XP_011520938.1:p.Glu1807GlyfsTer?
XM_011522637.2:c.5417del	XP_011520939.1:p.Glu1806GlyfsTer?
XM_011522638.2:c.5582del	XP_011520940.2:p.Glu1861GlyfsTer?
XM_011522639.2:c.5291del	XP_011520941.1:p.Glu1764GlyfsTer?
XM_011522640.2:c.5288del	XP_011520942.1:p.Glu1763GlyfsTer?
XM_017023615.1:c.5363del	XP_016879104.1:p.Glu1788GlyfsTer?
XM_017023616.1:c.5234del	XP_016879105.1:p.Glu1745GlyfsTer?
XM_017023617.1:c.5330del	XP_016879106.1:p.Glu1777GlyfsTer?
XM_017023618.1:c.4076del	XP_016879107.1:p.Glu1359GlyfsTer?
XM_024450413.1:c.5252del	XP_024306181.1:p.Glu1751GlyfsTer?
NM_000548.5:c.5366del MANE Select	NP_000539.2:p.Glu1789GlyfsTer?
NM_001370404.1:c.5234del	NP_001357333.1:p.Glu1745GlyfsTer?
NM_001370405.1:c.5225del	NP_001357334.1:p.Glu1742GlyfsTer?
NM_001077183.3:c.5165del	NP_001070651.1:p.Glu1722GlyfsTer?
NM_001114382.3:c.5297del	NP_001107854.1:p.Glu1766GlyfsTer?
NM_001318827.2:c.5057del	NP_001305756.1:p.Glu1686GlyfsTer?
NM_001318829.2:c.5021del	NP_001305758.1:p.Glu1674GlyfsTer?
NM_001318831.2:c.4634del	NP_001305760.1:p.Glu1545GlyfsTer?
NM_001318832.2:c.5198del	NP_001305761.1:p.Glu1733GlyfsTer?
NM_001363528.2:c.5168del	NP_001350457.1:p.Glu1723GlyfsTer?
NM_021055.3:c.5237del	NP_066399.2:p.Glu1746GlyfsTer?