Canonical Allele Identifier: CA2215697636

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482024_28482025delinsTG , CM000678.2:g.28482024_28482025delinsTG	GRCh38
NC_000016.9:g.28493345_28493346delinsTG , CM000678.1:g.28493345_28493346delinsTG	GRCh37
NC_000016.8:g.28400846_28400847delinsTG	NCBI36
NG_008654.2:g.15278_15279delinsCA , LRG_689:g.15278_15279delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.984+80_984+81delinsCA	ENSP00000329171.9:n.984+80_984+81delinsCA
ENST00000355477.10:c.912+80_912+81delinsCA	ENSP00000347660.7:n.912+80_912+81delinsCA
ENST00000357857.14:c.894+80_894+81delinsCA	ENSP00000350523.9:n.894+80_894+81delinsCA
ENST00000359984.12:c.1056+80_1056+81delinsCA	ENSP00000353073.9:n.1056+80_1056+81delinsCA
ENST00000360019.8:c.984+80_984+81delinsCA	ENSP00000353116.3:n.984+80_984+81delinsCA
ENST00000395653.9:c.597+80_597+81delinsCA	ENSP00000379014.5:n.597+80_597+81delinsCA
ENST00000561689.6:n.1469+80_1469+81delinsCA
ENST00000564091.6:c.396+80_396+81delinsCA	ENSP00000454466.2:n.396+80_396+81delinsCA
ENST00000565316.6:c.1005+80_1005+81delinsCA	ENSP00000456117.1:n.1005+80_1005+81delinsCA
ENST00000566824.6:n.1116+80_1116+81delinsCA
ENST00000567963.6:c.894+80_894+81delinsCA	ENSP00000455387.2:n.894+80_894+81delinsCA
ENST00000568076.6:n.1485+80_1485+81delinsCA
ENST00000568422.6:c.*293+80_*293+81delinsCA	ENSP00000455549.2:n.*293+80_*293+81delinsCA
ENST00000568452.6:n.1287+80_1287+81delinsCA
ENST00000569430.7:c.1056+80_1056+81delinsCA	ENSP00000454229.1:n.1056+80_1056+81delinsCA
ENST00000628023.3:c.*352+80_*352+81delinsCA	ENSP00000486178.1:n.*352+80_*352+81delinsCA
ENST00000635861.1:c.*708+80_*708+81delinsCA	ENSP00000490034.1:n.*708+80_*708+81delinsCA
ENST00000635887.1:c.1056+80_1056+81delinsCA	ENSP00000490709.1:n.1056+80_1056+81delinsCA
ENST00000635958.1:n.1341+80_1341+81delinsCA
ENST00000636017.1:c.*580+80_*580+81delinsCA	ENSP00000490538.1:n.*580+80_*580+81delinsCA
ENST00000636078.1:n.1178+80_1178+81delinsCA
ENST00000636147.2:c.1056+80_1056+81delinsCA MANE Select	ENSP00000490105.1:n.1056+80_1056+81delinsCA
ENST00000636172.1:c.*580+80_*580+81delinsCA	ENSP00000490505.1:n.*580+80_*580+81delinsCA
ENST00000636228.1:c.750+80_750+81delinsCA	ENSP00000489627.1:n.750+80_750+81delinsCA
ENST00000636351.1:n.950+80_950+81delinsCA
ENST00000636503.1:c.1056+80_1056+81delinsCA	ENSP00000489824.1:n.1056+80_1056+81delinsCA
ENST00000636685.1:n.737+80_737+81delinsCA
ENST00000636766.1:c.1056+80_1056+81delinsCA	ENSP00000489841.1:n.1056+80_1056+81delinsCA
ENST00000636839.1:n.1430+80_1430+81delinsCA
ENST00000636853.1:n.1971+80_1971+81delinsCA
ENST00000636866.1:c.1056+80_1056+81delinsCA	ENSP00000490880.1:n.1056+80_1056+81delinsCA
ENST00000636907.1:n.1207+80_1207+81delinsCA
ENST00000636977.1:n.2426+80_2426+81delinsCA
ENST00000637050.1:n.1445+80_1445+81delinsCA
ENST00000637100.1:c.1005+80_1005+81delinsCA	ENSP00000490394.1:n.1005+80_1005+81delinsCA
ENST00000637107.1:c.*580+80_*580+81delinsCA	ENSP00000490248.1:n.*580+80_*580+81delinsCA
ENST00000637184.1:c.1056+80_1056+81delinsCA	ENSP00000489952.1:n.1056+80_1056+81delinsCA
ENST00000637299.1:c.*865+80_*865+81delinsCA	ENSP00000489823.1:n.*865+80_*865+81delinsCA
ENST00000637376.1:c.1056+80_1056+81delinsCA	ENSP00000490758.1:n.1056+80_1056+81delinsCA
ENST00000637378.1:c.228+80_228+81delinsCA	ENSP00000490831.1:n.228+80_228+81delinsCA
ENST00000637578.1:c.*580+80_*580+81delinsCA	ENSP00000490206.1:n.*580+80_*580+81delinsCA
ENST00000637699.1:c.967+80_967+81delinsCA	ENSP00000490049.1:n.967+80_967+81delinsCA
ENST00000637745.1:c.395+80_395+81delinsCA
ENST00000637871.1:c.*754+80_*754+81delinsCA	ENSP00000490670.1:n.*754+80_*754+81delinsCA
ENST00000638036.1:c.218+80_218+81delinsCA
ENST00000333496.13:c.984+80_984+81delinsCA	ENSP00000329171.9:n.984+80_984+81delinsCA
ENST00000355477.9:c.*293+80_*293+81delinsCA	ENSP00000347660.6:n.*293+80_*293+81delinsCA
ENST00000357806.11:c.759+80_759+81delinsCA	ENSP00000350457.7:n.759+80_759+81delinsCA
ENST00000357857.13:c.894+80_894+81delinsCA	ENSP00000350523.9:n.894+80_894+81delinsCA
ENST00000359984.11:c.750+80_750+81delinsCA	ENSP00000353073.8:n.750+80_750+81delinsCA
ENST00000360019.6:c.1056+80_1056+81delinsCA	ENSP00000353116.2:n.1056+80_1056+81delinsCA
ENST00000395653.8:c.756+80_756+81delinsCA	ENSP00000379014.4:n.756+80_756+81delinsCA
ENST00000561689.5:n.1025+80_1025+81delinsCA
ENST00000563874.5:n.2584+80_2584+81delinsCA
ENST00000564091.5:c.145+80_145+81delinsCA
ENST00000565140.5:c.839+80_839+81delinsCA	ENSP00000455342.1:n.839+80_839+81delinsCA
ENST00000565316.5:c.1005+80_1005+81delinsCA	ENSP00000456117.1:n.1005+80_1005+81delinsCA
ENST00000565354.5:n.369+80_369+81delinsCA
ENST00000566057.5:c.670+80_670+81delinsCA	ENSP00000456693.1:n.670+80_670+81delinsCA
ENST00000567963.5:c.906+452_906+453delinsCA	ENSP00000455387.1:n.906+452_906+453delinsCA
ENST00000568076.5:n.967+80_967+81delinsCA
ENST00000568224.4:c.822+80_822+81delinsCA	ENSP00000454253.1:n.822+80_822+81delinsCA
ENST00000568422.5:c.*293+80_*293+81delinsCA	ENSP00000455549.1:n.*293+80_*293+81delinsCA
ENST00000568452.5:n.1184+80_1184+81delinsCA
ENST00000569030.5:c.726+80_726+81delinsCA	ENSP00000454680.1:n.726+80_726+81delinsCA
ENST00000569430.5:c.1056+80_1056+81delinsCA	ENSP00000454229.1:n.1056+80_1056+81delinsCA
ENST00000628023.2:c.*352+80_*352+81delinsCA	ENSP00000486178.1:n.*352+80_*352+81delinsCA
ENST00000631023.2:c.906+452_906+453delinsCA	ENSP00000486616.1:n.906+452_906+453delinsCA
NM_000086.2:c.1056+80_1056+81delinsCA , LRG_689t1:c.1056+80_1056+81delinsCA	NP_000077.1:n.1056+80_1056+81delinsCA
NM_001042432.1:c.1056+80_1056+81delinsCA , LRG_689t2:c.1056+80_1056+81delinsCA	NP_001035897.1:n.1056+80_1056+81delinsCA
NM_001286104.1:c.984+80_984+81delinsCA	NP_001273033.1:n.984+80_984+81delinsCA
NM_001286105.1:c.756+80_756+81delinsCA	NP_001273034.1:n.756+80_756+81delinsCA
NM_001286109.1:c.822+80_822+81delinsCA	NP_001273038.1:n.822+80_822+81delinsCA
NM_001286110.1:c.894+80_894+81delinsCA	NP_001273039.1:n.894+80_894+81delinsCA
NM_001042432.2:c.1056+80_1056+81delinsCA MANE Select	NP_001035897.1:n.1056+80_1056+81delinsCA
NM_001286104.2:c.984+80_984+81delinsCA	NP_001273033.1:n.984+80_984+81delinsCA
NM_001286105.2:c.756+80_756+81delinsCA	NP_001273034.1:n.756+80_756+81delinsCA
NM_001286109.2:c.822+80_822+81delinsCA	NP_001273038.1:n.822+80_822+81delinsCA
NM_001286110.2:c.894+80_894+81delinsCA	NP_001273039.1:n.894+80_894+81delinsCA