Canonical Allele Identifier: CA2202038954

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081773_2081776delinsCCCT , CM000678.2:g.2081773_2081776delinsCCCT	GRCh38
NC_000016.9:g.2131774_2131777delinsCCCT , CM000678.1:g.2131774_2131777delinsCCCT	GRCh37
NC_000016.8:g.2071775_2071778delinsCCCT	NCBI36
NG_005895.1:g.37468_37471delinsCCCT , LRG_487:g.37468_37471delinsCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2207_*2210delinsCCCT	ENSP00000455997.2:n.*2207_*2210delinsCCCT...
ENST00000642206.2:c.3705_3708delinsCCCT	ENSP00000495146.2:p.Pro1235=
ENST00000642365.2:c.3786_3789delinsCCCT	ENSP00000495459.2:p.Pro1262=
ENST00000644417.2:c.*4238_*4241delinsCCCT	ENSP00000493912.2:n.*4238_*4241delinsCCCT...
ENST00000646464.2:c.*4711_*4714delinsCCCT	ENSP00000496610.2:n.*4711_*4714delinsCCCT...
ENST00000219476.9:c.3789_3792delinsCCCT MANE Select	ENSP00000219476.3:p.Pro1263=
ENST00000350773.9:c.3789_3792delinsCCCT	ENSP00000344383.4:p.Pro1263=
ENST00000401874.7:c.3657_3660delinsCCCT	ENSP00000384468.2:p.Pro1219=
ENST00000568454.6:c.3690_3693delinsCCCT	ENSP00000454487.1:p.Pro1230=
ENST00000642365.1:c.2443_2446delinsCCCT
ENST00000642561.1:c.3660_3663delinsCCCT	ENSP00000495099.1:p.Pro1220=
ENST00000642797.1:c.3660_3663delinsCCCT	ENSP00000493846.1:p.Pro1220=
ENST00000642936.1:c.3657_3660delinsCCCT	ENSP00000494514.1:p.Pro1219=
ENST00000643088.1:c.3657_3660delinsCCCT	ENSP00000494747.1:p.Pro1219=
ENST00000643426.1:n.1437_1440delinsCCCT
ENST00000643533.1:n.299_302delinsCCCT
ENST00000643946.1:c.3789_3792delinsCCCT	ENSP00000495927.1:p.Pro1263=
ENST00000644043.1:c.3660_3663delinsCCCT	ENSP00000496262.1:p.Pro1220=
ENST00000644329.1:c.3657_3660delinsCCCT	ENSP00000496611.1:p.Pro1219=
ENST00000644335.1:c.3660_3663delinsCCCT	ENSP00000496317.1:p.Pro1220=
ENST00000644399.1:c.3779_3782delinsCCCT
ENST00000644722.1:n.935_938delinsCCCT
ENST00000645024.1:n.1942_1945delinsCCCT
ENST00000646388.1:c.3789_3792delinsCCCT	ENSP00000495921.1:p.Pro1263=
ENST00000646634.1:n.2673_2676delinsCCCT
ENST00000646674.1:n.404_407delinsCCCT
ENST00000647042.1:n.1081_1084delinsCCCT
ENST00000647180.1:n.269_272delinsCCCT
ENST00000219476.7:c.3789_3792delinsCCCT	ENSP00000219476.3:p.Pro1263=
ENST00000350773.8:c.3789_3792delinsCCCT	ENSP00000344383.4:p.Pro1263=
ENST00000382538.10:c.3513_3516delinsCCCT	ENSP00000371978.6:p.Pro1171=
ENST00000401874.6:c.3657_3660delinsCCCT	ENSP00000384468.2:p.Pro1219=
ENST00000439117.6:c.*2956_*2959delinsCCCT	ENSP00000406980.2:n.*2956_*2959delinsCCCT...
ENST00000439673.6:c.3549_3552delinsCCCT	ENSP00000399232.2:p.Pro1183=
ENST00000497886.5:n.1616_1619delinsCCCT
ENST00000568454.5:c.3690_3693delinsCCCT	ENSP00000454487.1:p.Pro1230=
NM_000548.3:c.3789_3792delinsCCCT , LRG_487t1:c.3789_3792delinsCCCT	NP_000539.2:p.Pro1263=
NM_001077183.1:c.3657_3660delinsCCCT	NP_001070651.1:p.Pro1219=
NM_001114382.1:c.3789_3792delinsCCCT	NP_001107854.1:p.Pro1263=
XM_005255529.3:c.3660_3663delinsCCCT	XP_005255586.2:p.Pro1220=
XM_005255531.3:c.3660_3663delinsCCCT	XP_005255588.2:p.Pro1220=
XM_011522636.1:c.3789_3792delinsCCCT	XP_011520938.1:p.Pro1263=
XM_011522637.1:c.3786_3789delinsCCCT	XP_011520939.1:p.Pro1262=
XM_011522638.1:c.3678_3681delinsCCCT	XP_011520940.1:p.Pro1226=
XM_011522639.1:c.3660_3663delinsCCCT	XP_011520941.1:p.Pro1220=
XM_011522640.1:c.3657_3660delinsCCCT	XP_011520942.1:p.Pro1219=
XM_011522641.1:c.3549_3552delinsCCCT	XP_011520943.1:p.Pro1183=
NM_000548.4:c.3789_3792delinsCCCT	NP_000539.2:p.Pro1263=
NM_001077183.2:c.3657_3660delinsCCCT	NP_001070651.1:p.Pro1219=
NM_001114382.2:c.3789_3792delinsCCCT	NP_001107854.1:p.Pro1263=
NM_001318827.1:c.3549_3552delinsCCCT	NP_001305756.1:p.Pro1183=
NM_001318829.1:c.3513_3516delinsCCCT	NP_001305758.1:p.Pro1171=
NM_001318831.1:c.3057_3060delinsCCCT	NP_001305760.1:p.Pro1019=
NM_001318832.1:c.3690_3693delinsCCCT	NP_001305761.1:p.Pro1230=
NM_001363528.1:c.3660_3663delinsCCCT	NP_001350457.1:p.Pro1220=
NM_021055.2:c.3660_3663delinsCCCT	NP_066399.2:p.Pro1220=
XM_005255531.4:c.3660_3663delinsCCCT	XP_005255588.2:p.Pro1220=
XM_011522636.2:c.3789_3792delinsCCCT	XP_011520938.1:p.Pro1263=
XM_011522637.2:c.3786_3789delinsCCCT	XP_011520939.1:p.Pro1262=
XM_011522638.2:c.3951_3954delinsCCCT	XP_011520940.2:p.Pro1317=
XM_011522639.2:c.3660_3663delinsCCCT	XP_011520941.1:p.Pro1220=
XM_011522640.2:c.3657_3660delinsCCCT	XP_011520942.1:p.Pro1219=
XM_017023615.1:c.3786_3789delinsCCCT	XP_016879104.1:p.Pro1262=
XM_017023616.1:c.3657_3660delinsCCCT	XP_016879105.1:p.Pro1219=
XM_017023617.1:c.3822_3825delinsCCCT	XP_016879106.1:p.Pro1274=
XM_017023618.1:c.2445_2448delinsCCCT	XP_016879107.1:p.Pro815=
XM_024450413.1:c.3657_3660delinsCCCT	XP_024306181.1:p.Pro1219=
NM_000548.5:c.3789_3792delinsCCCT MANE Select	NP_000539.2:p.Pro1263=
NM_001370404.1:c.3657_3660delinsCCCT	NP_001357333.1:p.Pro1219=
NM_001370405.1:c.3660_3663delinsCCCT	NP_001357334.1:p.Pro1220=
NM_001077183.3:c.3657_3660delinsCCCT	NP_001070651.1:p.Pro1219=
NM_001114382.3:c.3789_3792delinsCCCT	NP_001107854.1:p.Pro1263=
NM_001318827.2:c.3549_3552delinsCCCT	NP_001305756.1:p.Pro1183=
NM_001318829.2:c.3513_3516delinsCCCT	NP_001305758.1:p.Pro1171=
NM_001318831.2:c.3057_3060delinsCCCT	NP_001305760.1:p.Pro1019=
NM_001318832.2:c.3690_3693delinsCCCT	NP_001305761.1:p.Pro1230=
NM_001363528.2:c.3660_3663delinsCCCT	NP_001350457.1:p.Pro1220=
NM_021055.3:c.3660_3663delinsCCCT	NP_066399.2:p.Pro1220=