Canonical Allele Identifier: CA2201991351

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2048657_2048664delinsGTTTAAGA , CM000678.2:g.2048657_2048664delinsGTTTAAGA	GRCh38
NC_000016.9:g.2098658_2098665delinsGTTTAAGA , CM000678.1:g.2098658_2098665delinsGTTTAAGA	GRCh37
NC_000016.8:g.2038659_2038666delinsGTTTAAGA	NCBI36
NG_005895.1:g.4352_4359delinsGTTTAAGA , LRG_487:g.4352_4359delinsGTTTAAGA
NG_008412.1:g.4203_4210delinsTCTTAAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.42_49delinsGTTTAAGA	ENSP00000455997.2:p.Lys14=
ENST00000642206.2:c.42_49delinsGTTTAAGA	ENSP00000495146.2:p.Lys14=
ENST00000642365.2:c.42_49delinsGTTTAAGA	ENSP00000495459.2:p.Lys14=
ENST00000644417.2:c.42_49delinsGTTTAAGA	ENSP00000493912.2:p.Lys14=
ENST00000646464.2:c.42_49delinsGTTTAAGA	ENSP00000496610.2:p.Lys14=
ENST00000219476.9:c.42_49delinsGTTTAAGA MANE Select	ENSP00000219476.3:p.Lys14=
ENST00000350773.9:c.42_49delinsGTTTAAGA	ENSP00000344383.4:p.Lys14=
ENST00000401874.7:c.42_49delinsGTTTAAGA	ENSP00000384468.2:p.Lys14=
ENST00000461648.3:n.152_159delinsGTTTAAGA
ENST00000568454.6:c.75_82delinsGTTTAAGA	ENSP00000454487.1:p.Lys25=
ENST00000642206.1:c.42_49delinsGTTTAAGA	ENSP00000495146.1:p.Lys14=
ENST00000642561.1:c.42_49delinsGTTTAAGA	ENSP00000495099.1:p.Lys14=
ENST00000642797.1:c.42_49delinsGTTTAAGA	ENSP00000493846.1:p.Lys14=
ENST00000642812.1:n.99_106delinsGTTTAAGA
ENST00000642936.1:c.42_49delinsGTTTAAGA	ENSP00000494514.1:p.Lys14=
ENST00000643088.1:c.42_49delinsGTTTAAGA	ENSP00000494747.1:p.Lys14=
ENST00000643149.1:n.152_159delinsGTTTAAGA
ENST00000643298.1:c.42_49delinsGTTTAAGA	ENSP00000494393.1:p.Lys14=
ENST00000643745.1:c.42_49delinsGTTTAAGA	ENSP00000495948.1:p.Lys14=
ENST00000643946.1:c.42_49delinsGTTTAAGA	ENSP00000495927.1:p.Lys14=
ENST00000644043.1:c.42_49delinsGTTTAAGA	ENSP00000496262.1:p.Lys14=
ENST00000644135.1:c.42_49delinsGTTTAAGA	ENSP00000495644.1:p.Lys14=
ENST00000644222.1:n.129_136delinsGTTTAAGA
ENST00000644329.1:c.42_49delinsGTTTAAGA	ENSP00000496611.1:p.Lys14=
ENST00000644335.1:c.42_49delinsGTTTAAGA	ENSP00000496317.1:p.Lys14=
ENST00000644399.1:c.35_42delinsGTTTAAGA
ENST00000644665.1:n.159_166delinsGTTTAAGA
ENST00000645591.1:n.170_177delinsGTTTAAGA
ENST00000646388.1:c.42_49delinsGTTTAAGA	ENSP00000495921.1:p.Lys14=
ENST00000219476.7:c.42_49delinsGTTTAAGA	ENSP00000219476.3:p.Lys14=
ENST00000350773.8:c.42_49delinsGTTTAAGA	ENSP00000344383.4:p.Lys14=
ENST00000382538.10:c.-10+592_-10+599delinsGTTTAAGA	ENSP00000371978.6:n.-10+592_-10+599delins...
ENST00000401874.6:c.42_49delinsGTTTAAGA	ENSP00000384468.2:p.Lys14=
ENST00000439117.6:c.42_49delinsGTTTAAGA	ENSP00000406980.2:p.Lys14=
ENST00000439673.6:c.42_49delinsGTTTAAGA	ENSP00000399232.2:p.Lys14=
ENST00000461648.2:n.147_154delinsGTTTAAGA
ENST00000568454.5:c.75_82delinsGTTTAAGA	ENSP00000454487.1:p.Lys25=
NM_000548.3:c.42_49delinsGTTTAAGA , LRG_487t1:c.42_49delinsGTTTAAGA	NP_000539.2:p.Lys14=
NM_001077183.1:c.42_49delinsGTTTAAGA	NP_001070651.1:p.Lys14=
NM_001114382.1:c.42_49delinsGTTTAAGA	NP_001107854.1:p.Lys14=
XM_005255529.3:c.42_49delinsGTTTAAGA	XP_005255586.2:p.Lys14=
XM_005255531.3:c.42_49delinsGTTTAAGA	XP_005255588.2:p.Lys14=
XM_011522636.1:c.42_49delinsGTTTAAGA	XP_011520938.1:p.Lys14=
XM_011522637.1:c.42_49delinsGTTTAAGA	XP_011520939.1:p.Lys14=
XM_011522638.1:c.42_49delinsGTTTAAGA	XP_011520940.1:p.Lys14=
XM_011522639.1:c.42_49delinsGTTTAAGA	XP_011520941.1:p.Lys14=
XM_011522640.1:c.42_49delinsGTTTAAGA	XP_011520942.1:p.Lys14=
XM_011522641.1:c.42_49delinsGTTTAAGA	XP_011520943.1:p.Lys14=
NM_000548.4:c.42_49delinsGTTTAAGA	NP_000539.2:p.Lys14=
NM_001077183.2:c.42_49delinsGTTTAAGA	NP_001070651.1:p.Lys14=
NM_001114382.2:c.42_49delinsGTTTAAGA	NP_001107854.1:p.Lys14=
NM_001318827.1:c.42_49delinsGTTTAAGA	NP_001305756.1:p.Lys14=
NM_001318829.1:c.-10+592_-10+599delinsGTTTAAGA	NP_001305758.1:n.-10+592_-10+599delinsGTT...
NM_001318831.1:c.-185_-178delinsGTTTAAGA	NP_001305760.1:n.-185_-178delinsGTTTAAGA
NM_001318832.1:c.75_82delinsGTTTAAGA	NP_001305761.1:p.Lys25=
NM_001363528.1:c.42_49delinsGTTTAAGA	NP_001350457.1:p.Lys14=
NM_021055.2:c.42_49delinsGTTTAAGA	NP_066399.2:p.Lys14=
XM_005255531.4:c.42_49delinsGTTTAAGA	XP_005255588.2:p.Lys14=
XM_011522636.2:c.42_49delinsGTTTAAGA	XP_011520938.1:p.Lys14=
XM_011522637.2:c.42_49delinsGTTTAAGA	XP_011520939.1:p.Lys14=
XM_011522638.2:c.315_322delinsGTTTAAGA	XP_011520940.2:p.Lys105=
XM_011522639.2:c.42_49delinsGTTTAAGA	XP_011520941.1:p.Lys14=
XM_011522640.2:c.42_49delinsGTTTAAGA	XP_011520942.1:p.Lys14=
XM_017023615.1:c.42_49delinsGTTTAAGA	XP_016879104.1:p.Lys14=
XM_017023616.1:c.42_49delinsGTTTAAGA	XP_016879105.1:p.Lys14=
XM_017023617.1:c.315_322delinsGTTTAAGA	XP_016879106.1:p.Lys105=
XM_017023618.1:c.-1390_-1383delinsGTTTAAGA	XP_016879107.1:n.-1390_-1383delinsGTTTAAG...
XM_024450413.1:c.42_49delinsGTTTAAGA	XP_024306181.1:p.Lys14=
NM_000548.5:c.42_49delinsGTTTAAGA MANE Select	NP_000539.2:p.Lys14=
NM_001370404.1:c.42_49delinsGTTTAAGA	NP_001357333.1:p.Lys14=
NM_001370405.1:c.42_49delinsGTTTAAGA	NP_001357334.1:p.Lys14=
NM_001077183.3:c.42_49delinsGTTTAAGA	NP_001070651.1:p.Lys14=
NM_001114382.3:c.42_49delinsGTTTAAGA	NP_001107854.1:p.Lys14=
NM_001318827.2:c.42_49delinsGTTTAAGA	NP_001305756.1:p.Lys14=
NM_001318829.2:c.-10+592_-10+599delinsGTTTAAGA	NP_001305758.1:n.-10+592_-10+599delinsGTT...
NM_001318831.2:c.-185_-178delinsGTTTAAGA	NP_001305760.1:n.-185_-178delinsGTTTAAGA
NM_001318832.2:c.75_82delinsGTTTAAGA	NP_001305761.1:p.Lys25=
NM_001363528.2:c.42_49delinsGTTTAAGA	NP_001350457.1:p.Lys14=
NM_021055.3:c.42_49delinsGTTTAAGA	NP_066399.2:p.Lys14=