Canonical Allele Identifier: CA2580613370

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2060806_2060808del , CM000678.2:g.2060806_2060808del	GRCh38
NC_000016.9:g.2110807_2110809del , CM000678.1:g.2110807_2110809del	GRCh37
NC_000016.8:g.2050808_2050810del	NCBI36
NG_005895.1:g.16501_16503del , LRG_487:g.16501_16503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.1112_1114del	ENSP00000455997.2:p.Gln371del
ENST00000642206.2:c.1157_1159del	ENSP00000495146.2:p.Gln386del
ENST00000642365.2:c.1112_1114del	ENSP00000495459.2:p.Gln371del
ENST00000644417.2:c.*549_*551del	ENSP00000493912.2:n.*549_*551del
ENST00000646464.2:c.*717_*719del	ENSP00000496610.2:n.*717_*719del
ENST00000219476.9:c.1112_1114del MANE Select	ENSP00000219476.3:p.Gln371del
ENST00000350773.9:c.1112_1114del	ENSP00000344383.4:p.Gln371del
ENST00000401874.7:c.1112_1114del	ENSP00000384468.2:p.Gln371del
ENST00000467949.2:n.428-1691_428-1689del
ENST00000568454.6:c.1145_1147del	ENSP00000454487.1:p.Gln382del
ENST00000642561.1:c.1112_1114del	ENSP00000495099.1:p.Gln371del
ENST00000642797.1:c.1112_1114del	ENSP00000493846.1:p.Gln371del
ENST00000642812.1:n.1157_1159del
ENST00000642936.1:c.1112_1114del	ENSP00000494514.1:p.Gln371del
ENST00000643088.1:c.1112_1114del	ENSP00000494747.1:p.Gln371del
ENST00000643149.1:n.2065_2067del
ENST00000643298.1:c.*614_*616del	ENSP00000494393.1:n.*614_*616del
ENST00000643745.1:c.1112_1114del	ENSP00000495948.1:p.Gln371del
ENST00000643946.1:c.1112_1114del	ENSP00000495927.1:p.Gln371del
ENST00000644043.1:c.1112_1114del	ENSP00000496262.1:p.Gln371del
ENST00000644135.1:c.1112_1114del	ENSP00000495644.1:p.Gln371del
ENST00000644222.1:n.1199_1201del
ENST00000644329.1:c.1112_1114del	ENSP00000496611.1:p.Gln371del
ENST00000644335.1:c.1112_1114del	ENSP00000496317.1:p.Gln371del
ENST00000644399.1:c.1105_1107del
ENST00000644665.1:n.1229_1231del
ENST00000645591.1:n.2083_2085del
ENST00000646388.1:c.1112_1114del	ENSP00000495921.1:p.Gln371del
ENST00000646823.1:n.1526_1528del
ENST00000647234.1:n.1813_1815del
ENST00000647242.1:n.1780_1782del
ENST00000219476.7:c.1112_1114del	ENSP00000219476.3:p.Gln371del
ENST00000350773.8:c.1112_1114del	ENSP00000344383.4:p.Gln371del
ENST00000382538.10:c.965_967del	ENSP00000371978.6:p.Gln322del
ENST00000401874.6:c.1112_1114del	ENSP00000384468.2:p.Gln371del
ENST00000439117.6:c.*411_*413del	ENSP00000406980.2:n.*411_*413del
ENST00000439673.6:c.1001_1003del	ENSP00000399232.2:p.Gln334del
ENST00000467949.1:c.412-1691_412-1689del	ENSP00000454997.1:n.412-1691_412-1689del
ENST00000568454.5:c.1145_1147del	ENSP00000454487.1:p.Gln382del
NM_000548.3:c.1112_1114del , LRG_487t1:c.1112_1114del	NP_000539.2:p.Gln371del
NM_001077183.1:c.1112_1114del	NP_001070651.1:p.Gln371del
NM_001114382.1:c.1112_1114del	NP_001107854.1:p.Gln371del
XM_005255529.3:c.1112_1114del	XP_005255586.2:p.Gln371del
XM_005255531.3:c.1112_1114del	XP_005255588.2:p.Gln371del
XM_011522636.1:c.1112_1114del	XP_011520938.1:p.Gln371del
XM_011522637.1:c.1112_1114del	XP_011520939.1:p.Gln371del
XM_011522638.1:c.1001_1003del	XP_011520940.1:p.Gln334del
XM_011522639.1:c.1112_1114del	XP_011520941.1:p.Gln371del
XM_011522640.1:c.1112_1114del	XP_011520942.1:p.Gln371del
XM_011522641.1:c.1001_1003del	XP_011520943.1:p.Gln334del
NM_000548.4:c.1112_1114del	NP_000539.2:p.Gln371del
NM_001077183.2:c.1112_1114del	NP_001070651.1:p.Gln371del
NM_001114382.2:c.1112_1114del	NP_001107854.1:p.Gln371del
NM_001318827.1:c.1001_1003del	NP_001305756.1:p.Gln334del
NM_001318829.1:c.965_967del	NP_001305758.1:p.Gln322del
NM_001318831.1:c.512_514del	NP_001305760.1:p.Gln171del
NM_001318832.1:c.1145_1147del	NP_001305761.1:p.Gln382del
NM_001363528.1:c.1112_1114del	NP_001350457.1:p.Gln371del
NM_021055.2:c.1112_1114del	NP_066399.2:p.Gln371del
XM_005255531.4:c.1112_1114del	XP_005255588.2:p.Gln371del
XM_011522636.2:c.1112_1114del	XP_011520938.1:p.Gln371del
XM_011522637.2:c.1112_1114del	XP_011520939.1:p.Gln371del
XM_011522638.2:c.1274_1276del	XP_011520940.2:p.Gln425del
XM_011522639.2:c.1112_1114del	XP_011520941.1:p.Gln371del
XM_011522640.2:c.1112_1114del	XP_011520942.1:p.Gln371del
XM_017023615.1:c.1112_1114del	XP_016879104.1:p.Gln371del
XM_017023616.1:c.1112_1114del	XP_016879105.1:p.Gln371del
XM_017023617.1:c.1274_1276del	XP_016879106.1:p.Gln425del
XM_017023618.1:c.-320_-318del	XP_016879107.1:n.-320_-318del
XM_024450413.1:c.1112_1114del	XP_024306181.1:p.Gln371del
NM_000548.5:c.1112_1114del MANE Select	NP_000539.2:p.Gln371del
NM_001370404.1:c.1112_1114del	NP_001357333.1:p.Gln371del
NM_001370405.1:c.1112_1114del	NP_001357334.1:p.Gln371del
NM_001077183.3:c.1112_1114del	NP_001070651.1:p.Gln371del
NM_001114382.3:c.1112_1114del	NP_001107854.1:p.Gln371del
NM_001318827.2:c.1001_1003del	NP_001305756.1:p.Gln334del
NM_001318829.2:c.965_967del	NP_001305758.1:p.Gln322del
NM_001318831.2:c.512_514del	NP_001305760.1:p.Gln171del
NM_001318832.2:c.1145_1147del	NP_001305761.1:p.Gln382del
NM_001363528.2:c.1112_1114del	NP_001350457.1:p.Gln371del
NM_021055.3:c.1112_1114del	NP_066399.2:p.Gln371del