Canonical Allele Identifier: CA2831039418

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088074del , CM000678.2:g.2088074del	GRCh38
NC_000016.9:g.2138075del , CM000678.1:g.2138075del	GRCh37
NC_000016.8:g.2078076del	NCBI36
NG_005895.1:g.43769del , LRG_487:g.43769del
NG_008617.1:g.55147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3444del	ENSP00000455997.2:n.*3444del
ENST00000642206.2:c.4942del	ENSP00000495146.2:p.Val1648TrpfsTer?
ENST00000642365.2:c.5092del	ENSP00000495459.2:p.Val1698TrpfsTer?
ENST00000644417.2:c.*5608del	ENSP00000493912.2:n.*5608del
ENST00000646464.2:c.*7844del	ENSP00000496610.2:n.*7844del
ENST00000219476.9:c.5095del MANE Select	ENSP00000219476.3:p.Val1699TrpfsTer?
ENST00000350773.9:c.5026del	ENSP00000344383.4:p.Val1676TrpfsTer?
ENST00000401874.7:c.4894del	ENSP00000384468.2:p.Val1632TrpfsTer?
ENST00000568454.6:c.4927del	ENSP00000454487.1:p.Val1643TrpfsTer?
ENST00000569110.2:c.1318del
ENST00000569930.2:n.2977del
ENST00000642365.1:c.3749del
ENST00000642561.1:c.4966del	ENSP00000495099.1:p.Val1656TrpfsTer?
ENST00000642791.1:n.692del
ENST00000642797.1:c.4897del	ENSP00000493846.1:p.Val1633TrpfsTer?
ENST00000642936.1:c.4963del	ENSP00000494514.1:p.Val1655TrpfsTer?
ENST00000643088.1:c.4888del	ENSP00000494747.1:p.Val1630TrpfsTer?
ENST00000643426.1:n.2743del
ENST00000643946.1:c.5020del	ENSP00000495927.1:p.Val1674TrpfsTer?
ENST00000644043.1:c.4966del	ENSP00000496262.1:p.Val1656TrpfsTer?
ENST00000644329.1:c.4894del	ENSP00000496611.1:p.Val1632TrpfsTer23
ENST00000644335.1:c.4891del	ENSP00000496317.1:p.Val1631TrpfsTer?
ENST00000644399.1:c.5016del
ENST00000645024.1:n.3179del
ENST00000646388.1:c.5089del	ENSP00000495921.1:p.Val1697TrpfsTer?
ENST00000646634.1:n.3910del
ENST00000646674.1:n.2347del
ENST00000647042.1:n.2318del
ENST00000647180.1:n.2208del
ENST00000219476.7:c.5095del	ENSP00000219476.3:p.Val1699TrpfsTer?
ENST00000350773.8:c.5026del	ENSP00000344383.4:p.Val1676TrpfsTer?
ENST00000382538.10:c.4750del	ENSP00000371978.6:p.Val1584TrpfsTer?
ENST00000401874.6:c.4894del	ENSP00000384468.2:p.Val1632TrpfsTer?
ENST00000439117.6:c.*4262del	ENSP00000406980.2:n.*4262del
ENST00000439673.6:c.4786del	ENSP00000399232.2:p.Val1596TrpfsTer?
ENST00000497886.5:n.2818del
ENST00000568454.5:c.4927del	ENSP00000454487.1:p.Val1643TrpfsTer?
ENST00000569110.1:c.1277del
ENST00000569930.1:n.2210del
NM_000548.3:c.5095del , LRG_487t1:c.5095del	NP_000539.2:p.Val1699TrpfsTer?
NM_001077183.1:c.4894del	NP_001070651.1:p.Val1632TrpfsTer?
NM_001114382.1:c.5026del	NP_001107854.1:p.Val1676TrpfsTer?
XM_005255529.3:c.4966del	XP_005255586.2:p.Val1656TrpfsTer?
XM_005255531.3:c.4897del	XP_005255588.2:p.Val1633TrpfsTer?
XM_011522636.1:c.5149del	XP_011520938.1:p.Val1717TrpfsTer?
XM_011522637.1:c.5146del	XP_011520939.1:p.Val1716TrpfsTer?
XM_011522638.1:c.5038del	XP_011520940.1:p.Val1680TrpfsTer?
XM_011522639.1:c.5020del	XP_011520941.1:p.Val1674TrpfsTer?
XM_011522640.1:c.5017del	XP_011520942.1:p.Val1673TrpfsTer?
XM_011522641.1:c.4786del	XP_011520943.1:p.Val1596TrpfsTer?
NM_000548.4:c.5095del	NP_000539.2:p.Val1699TrpfsTer?
NM_001077183.2:c.4894del	NP_001070651.1:p.Val1632TrpfsTer?
NM_001114382.2:c.5026del	NP_001107854.1:p.Val1676TrpfsTer?
NM_001318827.1:c.4786del	NP_001305756.1:p.Val1596TrpfsTer?
NM_001318829.1:c.4750del	NP_001305758.1:p.Val1584TrpfsTer?
NM_001318831.1:c.4363del	NP_001305760.1:p.Val1455TrpfsTer?
NM_001318832.1:c.4927del	NP_001305761.1:p.Val1643TrpfsTer?
NM_001363528.1:c.4897del	NP_001350457.1:p.Val1633TrpfsTer?
NM_021055.2:c.4966del	NP_066399.2:p.Val1656TrpfsTer?
XM_005255531.4:c.4897del	XP_005255588.2:p.Val1633TrpfsTer?
XM_011522636.2:c.5149del	XP_011520938.1:p.Val1717TrpfsTer?
XM_011522637.2:c.5146del	XP_011520939.1:p.Val1716TrpfsTer?
XM_011522638.2:c.5311del	XP_011520940.2:p.Val1771TrpfsTer?
XM_011522639.2:c.5020del	XP_011520941.1:p.Val1674TrpfsTer?
XM_011522640.2:c.5017del	XP_011520942.1:p.Val1673TrpfsTer?
XM_017023615.1:c.5092del	XP_016879104.1:p.Val1698TrpfsTer?
XM_017023616.1:c.4963del	XP_016879105.1:p.Val1655TrpfsTer?
XM_017023617.1:c.5059del	XP_016879106.1:p.Val1687TrpfsTer?
XM_017023618.1:c.3805del	XP_016879107.1:p.Val1269TrpfsTer?
XM_024450413.1:c.4894del	XP_024306181.1:p.Val1632TrpfsTer23
NM_000548.5:c.5095del MANE Select	NP_000539.2:p.Val1699TrpfsTer?
NM_001370404.1:c.4963del	NP_001357333.1:p.Val1655TrpfsTer?
NM_001370405.1:c.4966del	NP_001357334.1:p.Val1656TrpfsTer?
NM_001077183.3:c.4894del	NP_001070651.1:p.Val1632TrpfsTer?
NM_001114382.3:c.5026del	NP_001107854.1:p.Val1676TrpfsTer?
NM_001318827.2:c.4786del	NP_001305756.1:p.Val1596TrpfsTer?
NM_001318829.2:c.4750del	NP_001305758.1:p.Val1584TrpfsTer?
NM_001318831.2:c.4363del	NP_001305760.1:p.Val1455TrpfsTer?
NM_001318832.2:c.4927del	NP_001305761.1:p.Val1643TrpfsTer?
NM_001363528.2:c.4897del	NP_001350457.1:p.Val1633TrpfsTer?
NM_021055.3:c.4966del	NP_066399.2:p.Val1656TrpfsTer?