Canonical Allele Identifier: CA2215673797
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28484045_28484046delinsGC , CM000678.2:g.28484045_28484046delinsGC GRCh38
NC_000016.9:g.28495366_28495367delinsGC , CM000678.1:g.28495366_28495367delinsGC GRCh37
NC_000016.8:g.28402867_28402868delinsGC NCBI36
NG_008654.2:g.13257_13258delinsGC , LRG_689:g.13257_13258delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.678_679delinsGC ENSP00000329171.9:p.Arg226=
ENST00000355477.10:c.606_607delinsGC ENSP00000347660.7:p.Arg202=
ENST00000357857.14:c.588_589delinsGC ENSP00000350523.9:p.Arg196=
ENST00000359984.12:c.750_751delinsGC ENSP00000353073.9:p.Arg250=
ENST00000360019.8:c.678_679delinsGC ENSP00000353116.3:p.Arg226=
ENST00000395653.9:c.291_292delinsGC ENSP00000379014.5:p.Arg97=
ENST00000561689.6:n.1035_1036delinsGC
ENST00000564091.6:c.90_91delinsGC ENSP00000454466.2:p.Arg30=
ENST00000565316.6:c.750_751delinsGC ENSP00000456117.1:p.Arg250=
ENST00000565778.6:c.381_382delinsGC ENSP00000458015.1:p.Arg127=
ENST00000566083.6:n.1208_1209delinsGC
ENST00000566824.6:n.730_731delinsGC
ENST00000567963.6:c.588_589delinsGC ENSP00000455387.2:p.Arg196=
ENST00000568076.6:n.877_878delinsGC
ENST00000568422.6:c.533_534delinsGC ENSP00000455549.2:p.Gly178=
ENST00000568452.6:n.853_854delinsGC
ENST00000568472.6:n.626_627delinsGC
ENST00000568497.6:c.-220_-219delinsGC ENSP00000456414.2:n.-220_-219delinsGC
ENST00000568558.6:c.453_454delinsGC ENSP00000455603.2:p.Arg151=
ENST00000569430.7:c.750_751delinsGC ENSP00000454229.1:p.Arg250=
ENST00000628023.3:c.*46_*47delinsGC ENSP00000486178.1:n.*46_*47delinsGC
ENST00000635861.1:c.*274_*275delinsGC ENSP00000490034.1:n.*274_*275delinsGC
ENST00000635887.1:c.750_751delinsGC ENSP00000490709.1:p.Arg250=
ENST00000635958.1:n.861_862delinsGC
ENST00000635973.1:c.501_502delinsGC ENSP00000490363.1:p.Arg167=
ENST00000636017.1:c.*274_*275delinsGC ENSP00000490538.1:n.*274_*275delinsGC
ENST00000636078.1:n.792_793delinsGC
ENST00000636147.2:c.750_751delinsGC MANE Select ENSP00000490105.1:p.Arg250=
ENST00000636172.1:c.*274_*275delinsGC ENSP00000490505.1:n.*274_*275delinsGC
ENST00000636228.1:c.444_445delinsGC ENSP00000489627.1:p.Arg148=
ENST00000636351.1:n.470_471delinsGC
ENST00000636503.1:c.750_751delinsGC ENSP00000489824.1:p.Arg250=
ENST00000636685.1:n.257_258delinsGC
ENST00000636766.1:c.750_751delinsGC ENSP00000489841.1:p.Arg250=
ENST00000636839.1:n.902_903delinsGC
ENST00000636853.1:n.1665_1666delinsGC
ENST00000636866.1:c.750_751delinsGC ENSP00000490880.1:p.Arg250=
ENST00000636907.1:n.901_902delinsGC
ENST00000636977.1:n.1818_1819delinsGC
ENST00000637050.1:n.837_838delinsGC
ENST00000637100.1:c.750_751delinsGC ENSP00000490394.1:p.Arg250=
ENST00000637107.1:c.*274_*275delinsGC ENSP00000490248.1:n.*274_*275delinsGC
ENST00000637184.1:c.750_751delinsGC ENSP00000489952.1:p.Arg250=
ENST00000637299.1:c.*559_*560delinsGC ENSP00000489823.1:n.*559_*560delinsGC
ENST00000637376.1:c.750_751delinsGC ENSP00000490758.1:p.Arg250=
ENST00000637578.1:c.*274_*275delinsGC ENSP00000490206.1:n.*274_*275delinsGC
ENST00000637699.1:c.533_534delinsGC ENSP00000490049.1:p.Gly178=
ENST00000637745.1:c.89_90delinsGC
ENST00000637871.1:c.*274_*275delinsGC ENSP00000490670.1:n.*274_*275delinsGC
ENST00000333496.13:c.678_679delinsGC ENSP00000329171.9:p.Arg226=
ENST00000355477.9:c.533_534delinsGC ENSP00000347660.6:p.Gly178=
ENST00000357806.11:c.453_454delinsGC ENSP00000350457.7:p.Arg151=
ENST00000357857.13:c.588_589delinsGC ENSP00000350523.9:p.Arg196=
ENST00000359984.11:c.444_445delinsGC ENSP00000353073.8:p.Arg148=
ENST00000360019.6:c.750_751delinsGC ENSP00000353116.2:p.Arg250=
ENST00000395653.8:c.450_451delinsGC ENSP00000379014.4:p.Arg150=
ENST00000561689.5:n.591_592delinsGC
ENST00000563874.5:n.2104_2105delinsGC
ENST00000564574.5:n.798_799delinsGC
ENST00000565047.1:n.344_345delinsGC
ENST00000565140.5:c.533_534delinsGC ENSP00000455342.1:p.Gly178=
ENST00000565316.5:c.750_751delinsGC ENSP00000456117.1:p.Arg250=
ENST00000565688.5:c.501_502delinsGC ENSP00000456122.1:p.Arg167=
ENST00000565778.5:c.381_382delinsGC ENSP00000458015.1:p.Arg127=
ENST00000566057.5:c.364_365delinsGC ENSP00000456693.1:n.364_365delinsGC
ENST00000566083.5:n.981_982delinsGC
ENST00000566824.5:n.799_800delinsGC
ENST00000567495.5:c.533_534delinsGC ENSP00000456013.1:p.Gly178=
ENST00000567963.5:c.750_751delinsGC ENSP00000455387.1:p.Arg250=
ENST00000568076.5:n.533_534delinsGC
ENST00000568224.4:c.516_517delinsGC ENSP00000454253.1:p.Arg172=
ENST00000568422.5:c.386_387delinsGC ENSP00000455549.1:p.Gly129=
ENST00000568452.5:n.750_751delinsGC
ENST00000568472.5:n.230_231delinsGC
ENST00000568497.5:c.*46_*47delinsGC ENSP00000456414.1:n.*46_*47delinsGC
ENST00000568558.5:c.291_292delinsGC ENSP00000455603.1:p.Arg97=
ENST00000569030.5:c.461-1374_461-1373delinsGC ENSP00000454680.1:n.461-1374_461-1373delinsGC
ENST00000569430.5:c.750_751delinsGC ENSP00000454229.1:p.Arg250=
ENST00000628023.2:c.*46_*47delinsGC ENSP00000486178.1:n.*46_*47delinsGC
ENST00000631023.2:c.750_751delinsGC ENSP00000486616.1:p.Arg250=
NM_000086.2:c.750_751delinsGC , LRG_689t1:c.750_751delinsGC NP_000077.1:p.Arg250=
NM_001042432.1:c.750_751delinsGC , LRG_689t2:c.750_751delinsGC NP_001035897.1:p.Arg250=
NM_001286104.1:c.678_679delinsGC NP_001273033.1:p.Arg226=
NM_001286105.1:c.450_451delinsGC NP_001273034.1:p.Arg150=
NM_001286109.1:c.516_517delinsGC NP_001273038.1:p.Arg172=
NM_001286110.1:c.588_589delinsGC NP_001273039.1:p.Arg196=
NM_001042432.2:c.750_751delinsGC MANE Select NP_001035897.1:p.Arg250=
NM_001286104.2:c.678_679delinsGC NP_001273033.1:p.Arg226=
NM_001286105.2:c.450_451delinsGC NP_001273034.1:p.Arg150=
NM_001286109.2:c.516_517delinsGC NP_001273038.1:p.Arg172=
NM_001286110.2:c.588_589delinsGC NP_001273039.1:p.Arg196=