Canonical Allele Identifier: CA018894

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079599_2079609del , CM000678.2:g.2079599_2079609del	GRCh38
NC_000016.9:g.2129600_2129610del , CM000678.1:g.2129600_2129610del	GRCh37
NC_000016.8:g.2069601_2069611del	NCBI36
NG_005895.1:g.35294_35304del , LRG_487:g.35294_35304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1745_*1755del	ENSP00000455997.2:n.*1745_*1755del
ENST00000642206.2:c.3243_3253del	ENSP00000495146.2:p.Ala1082ValfsTer?
ENST00000642365.2:c.3324_3334del	ENSP00000495459.2:p.Ala1109ValfsTer?
ENST00000644417.2:c.*3776_*3786del	ENSP00000493912.2:n.*3776_*3786del
ENST00000646464.2:c.*4249_*4259del	ENSP00000496610.2:n.*4249_*4259del
ENST00000219476.9:c.3327_3337del MANE Select	ENSP00000219476.3:p.Ala1110ValfsTer?
ENST00000350773.9:c.3327_3337del	ENSP00000344383.4:p.Ala1110ValfsTer?
ENST00000401874.7:c.3195_3205del	ENSP00000384468.2:p.Ala1066ValfsTer?
ENST00000471143.6:c.555_565del	ENSP00000458541.2:n.555_565del
ENST00000568454.6:c.3228_3238del	ENSP00000454487.1:p.Ala1077ValfsTer?
ENST00000642365.1:c.1981_1991del
ENST00000642561.1:c.3198_3208del	ENSP00000495099.1:p.Ala1067ValfsTer?
ENST00000642797.1:c.3198_3208del	ENSP00000493846.1:p.Ala1067ValfsTer?
ENST00000642936.1:c.3195_3205del	ENSP00000494514.1:p.Ala1066ValfsTer?
ENST00000643088.1:c.3195_3205del	ENSP00000494747.1:p.Ala1066ValfsTer?
ENST00000643946.1:c.3327_3337del	ENSP00000495927.1:p.Ala1110ValfsTer?
ENST00000644043.1:c.3198_3208del	ENSP00000496262.1:p.Ala1067ValfsTer?
ENST00000644329.1:c.3195_3205del	ENSP00000496611.1:p.Ala1066ValfsTer?
ENST00000644335.1:c.3198_3208del	ENSP00000496317.1:p.Ala1067ValfsTer?
ENST00000644399.1:c.3317_3327del
ENST00000644722.1:n.473_483del
ENST00000645024.1:n.1480_1490del
ENST00000646388.1:c.3327_3337del	ENSP00000495921.1:p.Ala1110ValfsTer?
ENST00000646634.1:n.2211_2221del
ENST00000647042.1:n.619_629del
ENST00000219476.7:c.3327_3337del	ENSP00000219476.3:p.Ala1110ValfsTer?
ENST00000350773.8:c.3327_3337del	ENSP00000344383.4:p.Ala1110ValfsTer?
ENST00000382538.10:c.3051_3061del	ENSP00000371978.6:p.Ala1018ValfsTer?
ENST00000401874.6:c.3195_3205del	ENSP00000384468.2:p.Ala1066ValfsTer?
ENST00000439117.6:c.*2494_*2504del	ENSP00000406980.2:n.*2494_*2504del
ENST00000439673.6:c.3087_3097del	ENSP00000399232.2:p.Ala1030ValfsTer?
ENST00000471143.5:c.553_563del
ENST00000497886.5:n.1154_1164del
ENST00000568366.5:n.684_694del
ENST00000568454.5:c.3228_3238del	ENSP00000454487.1:p.Ala1077ValfsTer?
NM_000548.3:c.3327_3337del , LRG_487t1:c.3327_3337del	NP_000539.2:p.Ala1110ValfsTer?
NM_001077183.1:c.3195_3205del	NP_001070651.1:p.Ala1066ValfsTer?
NM_001114382.1:c.3327_3337del	NP_001107854.1:p.Ala1110ValfsTer?
XM_005255529.3:c.3198_3208del	XP_005255586.2:p.Ala1067ValfsTer?
XM_005255531.3:c.3198_3208del	XP_005255588.2:p.Ala1067ValfsTer?
XM_011522636.1:c.3327_3337del	XP_011520938.1:p.Ala1110ValfsTer?
XM_011522637.1:c.3324_3334del	XP_011520939.1:p.Ala1109ValfsTer?
XM_011522638.1:c.3216_3226del	XP_011520940.1:p.Ala1073ValfsTer?
XM_011522639.1:c.3198_3208del	XP_011520941.1:p.Ala1067ValfsTer?
XM_011522640.1:c.3195_3205del	XP_011520942.1:p.Ala1066ValfsTer?
XM_011522641.1:c.3087_3097del	XP_011520943.1:p.Ala1030ValfsTer?
NM_000548.4:c.3327_3337del	NP_000539.2:p.Ala1110ValfsTer?
NM_001077183.2:c.3195_3205del	NP_001070651.1:p.Ala1066ValfsTer?
NM_001114382.2:c.3327_3337del	NP_001107854.1:p.Ala1110ValfsTer?
NM_001318827.1:c.3087_3097del	NP_001305756.1:p.Ala1030ValfsTer?
NM_001318829.1:c.3051_3061del	NP_001305758.1:p.Ala1018ValfsTer?
NM_001318831.1:c.2595_2605del	NP_001305760.1:p.Ala866ValfsTer?
NM_001318832.1:c.3228_3238del	NP_001305761.1:p.Ala1077ValfsTer?
NM_001363528.1:c.3198_3208del	NP_001350457.1:p.Ala1067ValfsTer?
NM_021055.2:c.3198_3208del	NP_066399.2:p.Ala1067ValfsTer?
XM_005255531.4:c.3198_3208del	XP_005255588.2:p.Ala1067ValfsTer?
XM_011522636.2:c.3327_3337del	XP_011520938.1:p.Ala1110ValfsTer?
XM_011522637.2:c.3324_3334del	XP_011520939.1:p.Ala1109ValfsTer?
XM_011522638.2:c.3489_3499del	XP_011520940.2:p.Ala1164ValfsTer?
XM_011522639.2:c.3198_3208del	XP_011520941.1:p.Ala1067ValfsTer?
XM_011522640.2:c.3195_3205del	XP_011520942.1:p.Ala1066ValfsTer?
XM_017023615.1:c.3324_3334del	XP_016879104.1:p.Ala1109ValfsTer?
XM_017023616.1:c.3195_3205del	XP_016879105.1:p.Ala1066ValfsTer?
XM_017023617.1:c.3360_3370del	XP_016879106.1:p.Ala1121ValfsTer?
XM_017023618.1:c.1983_1993del	XP_016879107.1:p.Ala662ValfsTer?
XM_024450413.1:c.3195_3205del	XP_024306181.1:p.Ala1066ValfsTer?
NM_000548.5:c.3327_3337del MANE Select	NP_000539.2:p.Ala1110ValfsTer?
NM_001370404.1:c.3195_3205del	NP_001357333.1:p.Ala1066ValfsTer?
NM_001370405.1:c.3198_3208del	NP_001357334.1:p.Ala1067ValfsTer?
NM_001077183.3:c.3195_3205del	NP_001070651.1:p.Ala1066ValfsTer?
NM_001114382.3:c.3327_3337del	NP_001107854.1:p.Ala1110ValfsTer?
NM_001318827.2:c.3087_3097del	NP_001305756.1:p.Ala1030ValfsTer?
NM_001318829.2:c.3051_3061del	NP_001305758.1:p.Ala1018ValfsTer?
NM_001318831.2:c.2595_2605del	NP_001305760.1:p.Ala866ValfsTer?
NM_001318832.2:c.3228_3238del	NP_001305761.1:p.Ala1077ValfsTer?
NM_001363528.2:c.3198_3208del	NP_001350457.1:p.Ala1067ValfsTer?
NM_021055.3:c.3198_3208del	NP_066399.2:p.Ala1067ValfsTer?