Canonical Allele Identifier: CA2215682188
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28489370_28489371delinsTG , CM000678.2:g.28489370_28489371delinsTG GRCh38
NC_000016.9:g.28500691_28500692delinsTG , CM000678.1:g.28500691_28500692delinsTG GRCh37
NC_000016.8:g.28408192_28408193delinsTG NCBI36
NG_008654.2:g.7932_7933delinsCA , LRG_689:g.7932_7933delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.141_142delinsCA ENSP00000329171.9:p.Cys47=
ENST00000355477.10:c.141_142delinsCA ENSP00000347660.7:p.Cys47=
ENST00000357857.14:c.-22_-21delinsCA ENSP00000350523.9:n.-22_-21delinsCA
ENST00000359984.12:c.141_142delinsCA ENSP00000353073.9:p.Cys47=
ENST00000360019.8:c.141_142delinsCA ENSP00000353116.3:p.Cys47=
ENST00000395653.9:c.-22_-21delinsCA ENSP00000379014.5:n.-22_-21delinsCA
ENST00000561505.2:c.-22_-21delinsCA ENSP00000457615.2:n.-22_-21delinsCA
ENST00000561689.6:n.426_427delinsCA
ENST00000565316.6:c.141_142delinsCA ENSP00000456117.1:p.Cys47=
ENST00000565778.6:c.141_142delinsCA ENSP00000458015.1:p.Cys47=
ENST00000566083.6:n.599_600delinsCA
ENST00000566824.6:n.121_122delinsCA
ENST00000567495.6:c.141_142delinsCA ENSP00000456013.2:p.Cys47=
ENST00000567963.6:c.-22_-21delinsCA ENSP00000455387.2:n.-22_-21delinsCA
ENST00000568076.6:n.268_269delinsCA
ENST00000568422.6:c.141_142delinsCA ENSP00000455549.2:p.Cys47=
ENST00000568443.2:c.294_295delinsCA ENSP00000454899.2:p.Cys98=
ENST00000568452.6:n.244_245delinsCA
ENST00000568472.6:n.314_315delinsCA
ENST00000568497.6:c.-374_-373delinsCA ENSP00000456414.2:n.-374_-373delinsCA
ENST00000568558.6:c.141_142delinsCA ENSP00000455603.2:p.Cys47=
ENST00000569430.7:c.141_142delinsCA ENSP00000454229.1:p.Cys47=
ENST00000628023.3:c.141_142delinsCA ENSP00000486178.1:p.Cys47=
ENST00000635861.1:c.-22_-21delinsCA ENSP00000490034.1:n.-22_-21delinsCA
ENST00000635887.1:c.141_142delinsCA ENSP00000490709.1:p.Cys47=
ENST00000635958.1:n.252_253delinsCA
ENST00000635973.1:c.126-1830_126-1829delinsCA ENSP00000490363.1:n.126-1830_126-1829delinsCA
ENST00000636017.1:c.141_142delinsCA ENSP00000490538.1:p.Cys47=
ENST00000636078.1:n.183_184delinsCA
ENST00000636147.2:c.141_142delinsCA MANE Select ENSP00000490105.1:p.Cys47=
ENST00000636172.1:c.141_142delinsCA ENSP00000490505.1:p.Cys47=
ENST00000636228.1:c.-22_-21delinsCA ENSP00000489627.1:n.-22_-21delinsCA
ENST00000636503.1:c.141_142delinsCA ENSP00000489824.1:p.Cys47=
ENST00000636766.1:c.141_142delinsCA ENSP00000489841.1:p.Cys47=
ENST00000636839.1:n.293_294delinsCA
ENST00000636853.1:n.217_218delinsCA
ENST00000636866.1:c.141_142delinsCA ENSP00000490880.1:p.Cys47=
ENST00000636977.1:n.240_241delinsCA
ENST00000637100.1:c.141_142delinsCA ENSP00000490394.1:p.Cys47=
ENST00000637107.1:c.294_295delinsCA ENSP00000490248.1:p.Cys98=
ENST00000637184.1:c.141_142delinsCA ENSP00000489952.1:p.Cys47=
ENST00000637299.1:c.94_95delinsCA ENSP00000489823.1:p.Gln32=
ENST00000637376.1:c.141_142delinsCA ENSP00000490758.1:p.Cys47=
ENST00000637578.1:c.-22_-21delinsCA ENSP00000490206.1:n.-22_-21delinsCA
ENST00000637699.1:c.141_142delinsCA ENSP00000490049.1:p.Cys47=
ENST00000637871.1:c.141_142delinsCA ENSP00000490670.1:p.Cys47=
ENST00000637985.1:c.*80_*81delinsCA ENSP00000490932.1:n.*80_*81delinsCA
ENST00000333496.13:c.141_142delinsCA ENSP00000329171.9:p.Cys47=
ENST00000355477.9:c.141_142delinsCA ENSP00000347660.6:p.Cys47=
ENST00000357806.11:c.141_142delinsCA ENSP00000350457.7:p.Cys47=
ENST00000357857.13:c.-22_-21delinsCA ENSP00000350523.9:n.-22_-21delinsCA
ENST00000359984.11:c.-22_-21delinsCA ENSP00000353073.8:n.-22_-21delinsCA
ENST00000360019.6:c.141_142delinsCA ENSP00000353116.2:p.Cys47=
ENST00000395653.8:c.-80_-79delinsCA ENSP00000379014.4:n.-80_-79delinsCA
ENST00000561505.1:c.-80_-79delinsCA ENSP00000457615.1:n.-80_-79delinsCA
ENST00000561689.5:n.62_63delinsCA
ENST00000563874.5:n.1495_1496delinsCA
ENST00000564574.5:n.189_190delinsCA
ENST00000565047.1:n.114-709_114-708delinsCA
ENST00000565140.5:c.141_142delinsCA ENSP00000455342.1:p.Cys47=
ENST00000565236.1:n.525_526delinsCA
ENST00000565316.5:c.141_142delinsCA ENSP00000456117.1:p.Cys47=
ENST00000565688.5:c.126-1830_126-1829delinsCA ENSP00000456122.1:n.126-1830_126-1829delinsCA
ENST00000565778.5:c.141_142delinsCA ENSP00000458015.1:p.Cys47=
ENST00000566057.5:c.126-1630_126-1629delinsCA ENSP00000456693.1:n.126-1630_126-1629delinsCA
ENST00000566083.5:n.372_373delinsCA
ENST00000566824.5:n.270_271delinsCA
ENST00000567495.5:c.141_142delinsCA ENSP00000456013.1:p.Cys47=
ENST00000567804.1:c.141_142delinsCA ENSP00000455365.1:p.Cys47=
ENST00000567963.5:c.141_142delinsCA ENSP00000455387.1:p.Cys47=
ENST00000568076.5:n.141_142delinsCA
ENST00000568224.4:c.-22_-21delinsCA ENSP00000454253.1:n.-22_-21delinsCA
ENST00000568422.5:c.-80_-79delinsCA ENSP00000455549.1:n.-80_-79delinsCA
ENST00000568443.1:c.294_295delinsCA ENSP00000454899.1:p.Cys98=
ENST00000568452.5:n.141_142delinsCA
ENST00000568472.5:n.76_77delinsCA
ENST00000568497.5:c.141_142delinsCA ENSP00000456414.1:p.Cys47=
ENST00000568558.5:c.-22_-21delinsCA ENSP00000455603.1:n.-22_-21delinsCA
ENST00000569030.5:c.141_142delinsCA ENSP00000454680.1:p.Cys47=
ENST00000569430.5:c.141_142delinsCA ENSP00000454229.1:p.Cys47=
ENST00000628023.2:c.141_142delinsCA ENSP00000486178.1:p.Cys47=
ENST00000631023.2:c.141_142delinsCA ENSP00000486616.1:p.Cys47=
NM_000086.2:c.141_142delinsCA , LRG_689t1:c.141_142delinsCA NP_000077.1:p.Cys47=
NM_001042432.1:c.141_142delinsCA , LRG_689t2:c.141_142delinsCA NP_001035897.1:p.Cys47=
NM_001286104.1:c.141_142delinsCA NP_001273033.1:p.Cys47=
NM_001286105.1:c.-80_-79delinsCA NP_001273034.1:n.-80_-79delinsCA
NM_001286109.1:c.-22_-21delinsCA NP_001273038.1:n.-22_-21delinsCA
NM_001286110.1:c.-22_-21delinsCA NP_001273039.1:n.-22_-21delinsCA
NM_001042432.2:c.141_142delinsCA MANE Select NP_001035897.1:p.Cys47=
NM_001286104.2:c.141_142delinsCA NP_001273033.1:p.Cys47=
NM_001286105.2:c.-80_-79delinsCA NP_001273034.1:n.-80_-79delinsCA
NM_001286109.2:c.-22_-21delinsCA NP_001273038.1:n.-22_-21delinsCA
NM_001286110.2:c.-22_-21delinsCA NP_001273039.1:n.-22_-21delinsCA