Canonical Allele Identifier: CA2505700218

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484078del , CM000678.2:g.28484078del	GRCh38
NC_000016.9:g.28495399del , CM000678.1:g.28495399del	GRCh37
NC_000016.8:g.28402900del	NCBI36
NG_008654.2:g.13226del , LRG_689:g.13226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.647del	ENSP00000329171.9:p.Gly216GlufsTer15
ENST00000355477.10:c.575del	ENSP00000347660.7:p.Gly192GlufsTer15
ENST00000357857.14:c.557del	ENSP00000350523.9:p.Gly186GlufsTer15
ENST00000359984.12:c.719del	ENSP00000353073.9:p.Gly240GlufsTer15
ENST00000360019.8:c.647del	ENSP00000353116.3:p.Gly216GlufsTer15
ENST00000395653.9:c.260del	ENSP00000379014.5:p.Gly87GlufsTer15
ENST00000561689.6:n.1004del
ENST00000564091.6:c.59del	ENSP00000454466.2:p.Gly20GlufsTer15
ENST00000565316.6:c.719del	ENSP00000456117.1:p.Gly240GlufsTer15
ENST00000565778.6:c.350del	ENSP00000458015.1:p.Gly117GlufsTer15
ENST00000566083.6:n.1177del
ENST00000566824.6:n.699del
ENST00000567495.6:c.*178del	ENSP00000456013.2:n.*178del
ENST00000567963.6:c.557del	ENSP00000455387.2:p.Gly186GlufsTer15
ENST00000568076.6:n.846del
ENST00000568422.6:c.502del	ENSP00000455549.2:p.Glu168ArgfsTer?
ENST00000568452.6:n.822del
ENST00000568472.6:n.595del
ENST00000568497.6:c.-251del	ENSP00000456414.2:n.-251del
ENST00000568558.6:c.422del	ENSP00000455603.2:p.Gly141GlufsTer15
ENST00000569430.7:c.719del	ENSP00000454229.1:p.Gly240GlufsTer15
ENST00000628023.3:c.*15del	ENSP00000486178.1:n.*15del
ENST00000635861.1:c.*243del	ENSP00000490034.1:n.*243del
ENST00000635887.1:c.719del	ENSP00000490709.1:p.Gly240GlufsTer15
ENST00000635958.1:n.830del
ENST00000635973.1:c.470del	ENSP00000490363.1:p.Gly157GlufsTer15
ENST00000636017.1:c.*243del	ENSP00000490538.1:n.*243del
ENST00000636078.1:n.761del
ENST00000636147.2:c.719del MANE Select	ENSP00000490105.1:p.Gly240GlufsTer15
ENST00000636172.1:c.*243del	ENSP00000490505.1:n.*243del
ENST00000636228.1:c.413del	ENSP00000489627.1:p.Gly138GlufsTer15
ENST00000636351.1:n.439del
ENST00000636503.1:c.719del	ENSP00000489824.1:p.Gly240GlufsTer15
ENST00000636685.1:n.226del
ENST00000636766.1:c.719del	ENSP00000489841.1:p.Gly240GlufsTer15
ENST00000636839.1:n.871del
ENST00000636853.1:n.1634del
ENST00000636866.1:c.719del	ENSP00000490880.1:p.Gly240GlufsTer15
ENST00000636907.1:n.870del
ENST00000636977.1:n.1787del
ENST00000637050.1:n.806del
ENST00000637100.1:c.719del	ENSP00000490394.1:p.Gly240GlufsTer15
ENST00000637107.1:c.*243del	ENSP00000490248.1:n.*243del
ENST00000637184.1:c.719del	ENSP00000489952.1:p.Gly240GlufsTer15
ENST00000637299.1:c.*528del	ENSP00000489823.1:n.*528del
ENST00000637376.1:c.719del	ENSP00000490758.1:p.Gly240GlufsTer15
ENST00000637578.1:c.*243del	ENSP00000490206.1:n.*243del
ENST00000637699.1:c.502del	ENSP00000490049.1:p.Glu168ArgfsTer?
ENST00000637745.1:c.58del
ENST00000637871.1:c.*243del	ENSP00000490670.1:n.*243del
ENST00000333496.13:c.647del	ENSP00000329171.9:p.Gly216GlufsTer15
ENST00000355477.9:c.502del	ENSP00000347660.6:p.Glu168ArgfsTer?
ENST00000357806.11:c.422del	ENSP00000350457.7:p.Gly141GlufsTer15
ENST00000357857.13:c.557del	ENSP00000350523.9:p.Gly186GlufsTer15
ENST00000359984.11:c.413del	ENSP00000353073.8:p.Gly138GlufsTer15
ENST00000360019.6:c.719del	ENSP00000353116.2:p.Gly240GlufsTer15
ENST00000395653.8:c.419del	ENSP00000379014.4:p.Gly140GlufsTer15
ENST00000561689.5:n.560del
ENST00000563874.5:n.2073del
ENST00000564574.5:n.767del
ENST00000565047.1:n.313del
ENST00000565140.5:c.502del	ENSP00000455342.1:p.Glu168ArgfsTer?
ENST00000565316.5:c.719del	ENSP00000456117.1:p.Gly240GlufsTer15
ENST00000565688.5:c.470del	ENSP00000456122.1:p.Gly157GlufsTer15
ENST00000565778.5:c.350del	ENSP00000458015.1:p.Gly117GlufsTer15
ENST00000566057.5:c.333del	ENSP00000456693.1:n.333del
ENST00000566083.5:n.950del
ENST00000566824.5:n.768del
ENST00000567495.5:c.502del	ENSP00000456013.1:p.Glu168ArgfsTer?
ENST00000567963.5:c.719del	ENSP00000455387.1:p.Gly240GlufsTer15
ENST00000568076.5:n.502del
ENST00000568224.4:c.485del	ENSP00000454253.1:p.Gly162GlufsTer15
ENST00000568422.5:c.355del	ENSP00000455549.1:p.Glu119ArgfsTer?
ENST00000568452.5:n.719del
ENST00000568472.5:n.199del
ENST00000568497.5:c.*15del	ENSP00000456414.1:n.*15del
ENST00000568558.5:c.260del	ENSP00000455603.1:p.Gly87GlufsTer15
ENST00000569030.5:c.461-1405del	ENSP00000454680.1:n.461-1405del
ENST00000569430.5:c.719del	ENSP00000454229.1:p.Gly240GlufsTer15
ENST00000628023.2:c.*15del	ENSP00000486178.1:n.*15del
ENST00000631023.2:c.719del	ENSP00000486616.1:p.Gly240GlufsTer15
NM_000086.2:c.719del , LRG_689t1:c.719del	NP_000077.1:p.Gly240GlufsTer15
NM_001042432.1:c.719del , LRG_689t2:c.719del	NP_001035897.1:p.Gly240GlufsTer15
NM_001286104.1:c.647del	NP_001273033.1:p.Gly216GlufsTer15
NM_001286105.1:c.419del	NP_001273034.1:p.Gly140GlufsTer15
NM_001286109.1:c.485del	NP_001273038.1:p.Gly162GlufsTer15
NM_001286110.1:c.557del	NP_001273039.1:p.Gly186GlufsTer15
NM_001042432.2:c.719del MANE Select	NP_001035897.1:p.Gly240GlufsTer15
NM_001286104.2:c.647del	NP_001273033.1:p.Gly216GlufsTer15
NM_001286105.2:c.419del	NP_001273034.1:p.Gly140GlufsTer15
NM_001286109.2:c.485del	NP_001273038.1:p.Gly162GlufsTer15
NM_001286110.2:c.557del	NP_001273039.1:p.Gly186GlufsTer15