Canonical Allele Identifier: CA2632489896
Gene: CLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28484023del , CM000678.2:g.28484023del GRCh38
NC_000016.9:g.28495344del , CM000678.1:g.28495344del GRCh37
NC_000016.8:g.28402845del NCBI36
NG_008654.2:g.13283del , LRG_689:g.13283del

Transcript Alleles

HGVS Amino-acid change
ENST00000333496.14:c.704del ENSP00000329171.9:p.Pro235ArgfsTer?
ENST00000355477.10:c.632del ENSP00000347660.7:p.Pro211ArgfsTer?
ENST00000357857.14:c.614del ENSP00000350523.9:p.Pro205ArgfsTer?
ENST00000359984.12:c.776del ENSP00000353073.9:p.Pro259ArgfsTer?
ENST00000360019.8:c.704del ENSP00000353116.3:p.Pro235ArgfsTer?
ENST00000395653.9:c.317del ENSP00000379014.5:p.Pro106ArgfsTer?
ENST00000561689.6:n.1061del
ENST00000564091.6:c.116del ENSP00000454466.2:p.Pro39ArgfsTer?
ENST00000565316.6:c.776del ENSP00000456117.1:p.Pro259ArgfsTer24
ENST00000565778.6:c.407del ENSP00000458015.1:p.Pro136ArgfsTer?
ENST00000566083.6:n.1234del
ENST00000566824.6:n.756del
ENST00000567963.6:c.614del ENSP00000455387.2:p.Pro205ArgfsTer?
ENST00000568076.6:n.903del
ENST00000568422.6:c.*13del ENSP00000455549.2:n.*13del
ENST00000568452.6:n.879del
ENST00000568472.6:n.652del
ENST00000568497.6:c.-194del ENSP00000456414.2:n.-194del
ENST00000568558.6:c.479del ENSP00000455603.2:p.Pro160ArgfsTer?
ENST00000569430.7:c.776del ENSP00000454229.1:p.Pro259ArgfsTer?
ENST00000628023.3:c.*72del ENSP00000486178.1:n.*72del
ENST00000635861.1:c.*300del ENSP00000490034.1:n.*300del
ENST00000635887.1:c.776del ENSP00000490709.1:p.Pro259ArgfsTer?
ENST00000635958.1:n.887del
ENST00000635973.1:c.527del ENSP00000490363.1:p.Pro176ArgfsTer?
ENST00000636017.1:c.*300del ENSP00000490538.1:n.*300del
ENST00000636078.1:n.818del
ENST00000636147.2:c.776del MANE Select ENSP00000490105.1:p.Pro259ArgfsTer?
ENST00000636172.1:c.*300del ENSP00000490505.1:n.*300del
ENST00000636228.1:c.470del ENSP00000489627.1:p.Pro157ArgfsTer?
ENST00000636351.1:n.496del
ENST00000636503.1:c.776del ENSP00000489824.1:p.Pro259ArgfsTer?
ENST00000636685.1:n.283del
ENST00000636766.1:c.776del ENSP00000489841.1:p.Pro259ArgfsTer?
ENST00000636839.1:n.928del
ENST00000636853.1:n.1691del
ENST00000636866.1:c.776del ENSP00000490880.1:p.Pro259ArgfsTer?
ENST00000636907.1:n.927del
ENST00000636977.1:n.1844del
ENST00000637050.1:n.863del
ENST00000637100.1:c.776del ENSP00000490394.1:p.Pro259ArgfsTer24
ENST00000637107.1:c.*300del ENSP00000490248.1:n.*300del
ENST00000637184.1:c.776del ENSP00000489952.1:p.Pro259ArgfsTer?
ENST00000637299.1:c.*585del ENSP00000489823.1:n.*585del
ENST00000637376.1:c.776del ENSP00000490758.1:p.Pro259ArgfsTer?
ENST00000637578.1:c.*300del ENSP00000490206.1:n.*300del
ENST00000637699.1:c.559del ENSP00000490049.1:n.559del
ENST00000637745.1:c.115del
ENST00000637871.1:c.*300del ENSP00000490670.1:n.*300del
ENST00000333496.13:c.704del ENSP00000329171.9:p.Pro235ArgfsTer?
ENST00000355477.9:c.*13del ENSP00000347660.6:n.*13del
ENST00000357806.11:c.479del ENSP00000350457.7:p.Pro160ArgfsTer?
ENST00000357857.13:c.614del ENSP00000350523.9:p.Pro205ArgfsTer?
ENST00000359984.11:c.470del ENSP00000353073.8:p.Pro157ArgfsTer?
ENST00000360019.6:c.776del ENSP00000353116.2:p.Pro259ArgfsTer?
ENST00000395653.8:c.476del ENSP00000379014.4:p.Pro159ArgfsTer?
ENST00000561689.5:n.617del
ENST00000563874.5:n.2130del
ENST00000564574.5:n.824del
ENST00000565047.1:n.370del
ENST00000565140.5:c.559del ENSP00000455342.1:n.559del
ENST00000565316.5:c.776del ENSP00000456117.1:p.Pro259ArgfsTer24
ENST00000565688.5:c.527del ENSP00000456122.1:p.Pro176ArgfsTer?
ENST00000565778.5:c.407del ENSP00000458015.1:p.Pro136ArgfsTer?
ENST00000566057.5:c.390del ENSP00000456693.1:n.390del
ENST00000566083.5:n.1007del
ENST00000566824.5:n.825del
ENST00000567495.5:c.*13del ENSP00000456013.1:n.*13del
ENST00000567963.5:c.776del ENSP00000455387.1:p.Pro259ArgfsTer?
ENST00000568076.5:n.559del
ENST00000568224.4:c.542del ENSP00000454253.1:p.Pro181ArgfsTer?
ENST00000568422.5:c.*13del ENSP00000455549.1:n.*13del
ENST00000568452.5:n.776del
ENST00000568472.5:n.256del
ENST00000568497.5:c.*72del ENSP00000456414.1:n.*72del
ENST00000568558.5:c.317del ENSP00000455603.1:p.Pro106ArgfsTer?
ENST00000569030.5:c.461-1348del ENSP00000454680.1:n.461-1348del
ENST00000569430.5:c.776del ENSP00000454229.1:p.Pro259ArgfsTer?
ENST00000628023.2:c.*72del ENSP00000486178.1:n.*72del
ENST00000631023.2:c.776del ENSP00000486616.1:p.Pro259ArgfsTer?
NM_000086.2:c.776del , LRG_689t1:c.776del NP_000077.1:p.Pro259ArgfsTer?
NM_001042432.1:c.776del , LRG_689t2:c.776del NP_001035897.1:p.Pro259ArgfsTer?
NM_001286104.1:c.704del NP_001273033.1:p.Pro235ArgfsTer?
NM_001286105.1:c.476del NP_001273034.1:p.Pro159ArgfsTer?
NM_001286109.1:c.542del NP_001273038.1:p.Pro181ArgfsTer?
NM_001286110.1:c.614del NP_001273039.1:p.Pro205ArgfsTer?
NM_001042432.2:c.776del MANE Select NP_001035897.1:p.Pro259ArgfsTer?
NM_001286104.2:c.704del NP_001273033.1:p.Pro235ArgfsTer?
NM_001286105.2:c.476del NP_001273034.1:p.Pro159ArgfsTer?
NM_001286109.2:c.542del NP_001273038.1:p.Pro181ArgfsTer?
NM_001286110.2:c.614del NP_001273039.1:p.Pro205ArgfsTer?