Canonical Allele Identifier: CA263666
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28487540_28487541dup , CM000678.2:g.28487540_28487541dup GRCh38
NC_000016.9:g.28498861_28498862dup , CM000678.1:g.28498861_28498862dup GRCh37
NC_000016.8:g.28406362_28406363dup NCBI36
NG_008654.2:g.9765_9766dup , LRG_689:g.9765_9766dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.306_307dup ENSP00000329171.9:p.Arg103ProfsTer?
ENST00000355477.10:c.378_379dup ENSP00000347660.7:p.Arg127ProfsTer?
ENST00000357857.14:c.216_217dup ENSP00000350523.9:p.Arg73ProfsTer?
ENST00000359984.12:c.378_379dup ENSP00000353073.9:p.Arg127ProfsTer?
ENST00000360019.8:c.306_307dup ENSP00000353116.3:p.Arg103ProfsTer?
ENST00000395653.9:c.136_137dup ENSP00000379014.5:p.Gly47ArgfsTer?
ENST00000561505.2:c.64_65dup ENSP00000457615.2:p.Gly23ArgfsTer?
ENST00000561689.6:n.663_664dup
ENST00000565316.6:c.378_379dup ENSP00000456117.1:p.Arg127ProfsTer?
ENST00000565778.6:c.226_227dup ENSP00000458015.1:p.Gly77ArgfsTer?
ENST00000566083.6:n.836_837dup
ENST00000566824.6:n.358_359dup
ENST00000567495.6:c.378_379dup ENSP00000456013.2:p.Arg127ProfsTer?
ENST00000567963.6:c.216_217dup ENSP00000455387.2:p.Arg73ProfsTer?
ENST00000568076.6:n.505_506dup
ENST00000568422.6:c.378_379dup ENSP00000455549.2:p.Arg127ProfsTer?
ENST00000568443.2:c.531_532dup ENSP00000454899.2:p.Arg178ProfsTer?
ENST00000568452.6:n.481_482dup
ENST00000568472.6:n.471_472dup
ENST00000568497.6:c.-293+1752_-293+1753dup ENSP00000456414.2:n.-293+1752_-293+1753dup
ENST00000568558.6:c.298_299dup ENSP00000455603.2:p.Gly101ArgfsTer?
ENST00000569430.7:c.378_379dup ENSP00000454229.1:p.Arg127ProfsTer?
ENST00000628023.3:c.222+1752_222+1753dup ENSP00000486178.1:n.222+1752_222+1753dup
ENST00000635861.1:c.136_137dup ENSP00000490034.1:p.Gly47ArgfsTer?
ENST00000635887.1:c.378_379dup ENSP00000490709.1:p.Arg127ProfsTer?
ENST00000635958.1:n.489_490dup
ENST00000635973.1:c.129_130dup ENSP00000490363.1:p.Arg44ProfsTer?
ENST00000636017.1:c.298_299dup ENSP00000490538.1:p.Gly101ArgfsTer?
ENST00000636078.1:n.420_421dup
ENST00000636147.2:c.378_379dup MANE Select ENSP00000490105.1:p.Arg127ProfsTer?
ENST00000636172.1:c.298_299dup ENSP00000490505.1:p.Gly101ArgfsTer?
ENST00000636228.1:c.216_217dup ENSP00000489627.1:p.Arg73ProfsTer?
ENST00000636351.1:n.98_99dup
ENST00000636503.1:c.378_379dup ENSP00000489824.1:p.Arg127ProfsTer?
ENST00000636766.1:c.378_379dup ENSP00000489841.1:p.Arg127ProfsTer?
ENST00000636839.1:n.530_531dup
ENST00000636853.1:n.454_455dup
ENST00000636866.1:c.378_379dup ENSP00000490880.1:p.Arg127ProfsTer?
ENST00000636977.1:n.1446_1447dup
ENST00000637100.1:c.378_379dup ENSP00000490394.1:p.Arg127ProfsTer?
ENST00000637107.1:c.451_452dup ENSP00000490248.1:p.Gly152ArgfsTer?
ENST00000637184.1:c.378_379dup ENSP00000489952.1:p.Arg127ProfsTer?
ENST00000637299.1:c.*187_*188dup ENSP00000489823.1:n.*187_*188dup
ENST00000637376.1:c.378_379dup ENSP00000490758.1:p.Arg127ProfsTer?
ENST00000637578.1:c.136_137dup ENSP00000490206.1:p.Gly47ArgfsTer?
ENST00000637699.1:c.378_379dup ENSP00000490049.1:p.Arg127ProfsTer?
ENST00000637871.1:c.298_299dup ENSP00000490670.1:p.Gly101ArgfsTer?
ENST00000637985.1:c.*317_*318dup ENSP00000490932.1:n.*317_*318dup
ENST00000333496.13:c.306_307dup ENSP00000329171.9:p.Arg103ProfsTer?
ENST00000355477.9:c.378_379dup ENSP00000347660.6:p.Arg127ProfsTer?
ENST00000357806.11:c.298_299dup ENSP00000350457.7:p.Gly101ArgfsTer?
ENST00000357857.13:c.216_217dup ENSP00000350523.9:p.Arg73ProfsTer?
ENST00000359984.11:c.216_217dup ENSP00000353073.8:p.Arg73ProfsTer?
ENST00000360019.6:c.378_379dup ENSP00000353116.2:p.Arg127ProfsTer?
ENST00000395653.8:c.78_79dup ENSP00000379014.4:p.Arg27ProfsTer?
ENST00000561505.1:c.78_79dup ENSP00000457615.1:p.Arg27ProfsTer?
ENST00000561689.5:n.219_220dup
ENST00000563874.5:n.1732_1733dup
ENST00000564574.5:n.426_427dup
ENST00000565047.1:n.189_190dup
ENST00000565140.5:c.378_379dup ENSP00000455342.1:p.Arg127ProfsTer?
ENST00000565316.5:c.378_379dup ENSP00000456117.1:p.Arg127ProfsTer?
ENST00000565688.5:c.129_130dup ENSP00000456122.1:p.Arg44ProfsTer?
ENST00000565778.5:c.226_227dup ENSP00000458015.1:p.Gly77ArgfsTer?
ENST00000566057.5:c.209_210dup ENSP00000456693.1:p.Gly71ProfsTer?
ENST00000566083.5:n.609_610dup
ENST00000566824.5:n.427_428dup
ENST00000567495.5:c.378_379dup ENSP00000456013.1:p.Arg127ProfsTer?
ENST00000567963.5:c.378_379dup ENSP00000455387.1:p.Arg127ProfsTer?
ENST00000568076.5:n.378_379dup
ENST00000568224.4:c.144_145dup ENSP00000454253.1:p.Arg49ProfsTer?
ENST00000568422.5:c.158_159dup ENSP00000455549.1:p.Gly54ProfsTer?
ENST00000568452.5:n.378_379dup
ENST00000568472.5:n.157+1752_157+1753dup
ENST00000568497.5:c.222+1752_222+1753dup ENSP00000456414.1:n.222+1752_222+1753dup
ENST00000568558.5:c.136_137dup ENSP00000455603.1:p.Gly47ArgfsTer?
ENST00000569030.5:c.378_379dup ENSP00000454680.1:p.Arg127ProfsTer?
ENST00000569430.5:c.378_379dup ENSP00000454229.1:p.Arg127ProfsTer?
ENST00000628023.2:c.222+1752_222+1753dup ENSP00000486178.1:n.222+1752_222+1753dup
ENST00000631023.2:c.378_379dup ENSP00000486616.1:p.Arg127ProfsTer?
NM_000086.2:c.378_379dup , LRG_689t1:c.378_379dup NP_000077.1:p.Arg127ProfsTer?
NM_001042432.1:c.378_379dup , LRG_689t2:c.378_379dup NP_001035897.1:p.Arg127ProfsTer?
NM_001286104.1:c.306_307dup NP_001273033.1:p.Arg103ProfsTer?
NM_001286105.1:c.78_79dup NP_001273034.1:p.Arg27ProfsTer?
NM_001286109.1:c.144_145dup NP_001273038.1:p.Arg49ProfsTer?
NM_001286110.1:c.216_217dup NP_001273039.1:p.Arg73ProfsTer?
NM_001042432.2:c.378_379dup MANE Select NP_001035897.1:p.Arg127ProfsTer?
NM_001286104.2:c.306_307dup NP_001273033.1:p.Arg103ProfsTer?
NM_001286105.2:c.78_79dup NP_001273034.1:p.Arg27ProfsTer?
NM_001286109.2:c.144_145dup NP_001273038.1:p.Arg49ProfsTer?
NM_001286110.2:c.216_217dup NP_001273039.1:p.Arg73ProfsTer?