Canonical Allele Identifier: CA2215697478

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28481972_28481980delinsGCGAGACTC , CM000678.2:g.28481972_28481980delinsGCGAGACTC	GRCh38
NC_000016.9:g.28493293_28493301delinsGCGAGACTC , CM000678.1:g.28493293_28493301delinsGCGAGACTC	GRCh37
NC_000016.8:g.28400794_28400802delinsGCGAGACTC	NCBI36
NG_008654.2:g.15323_15331delinsGAGTCTCGC , LRG_689:g.15323_15331delinsGAGTCTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.984+125_984+133delinsGAGTCTCGC	ENSP00000329171.9:n.984+125_984+133delinsGAGTCTCGC
ENST00000355477.10:c.912+125_912+133delinsGAGTCTCGC	ENSP00000347660.7:n.912+125_912+133delinsGAGTCTCGC
ENST00000357857.14:c.894+125_894+133delinsGAGTCTCGC	ENSP00000350523.9:n.894+125_894+133delinsGAGTCTCGC
ENST00000359984.12:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000353073.9:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000360019.8:c.984+125_984+133delinsGAGTCTCGC	ENSP00000353116.3:n.984+125_984+133delinsGAGTCTCGC
ENST00000395653.9:c.597+125_597+133delinsGAGTCTCGC	ENSP00000379014.5:n.597+125_597+133delinsGAGTCTCGC
ENST00000561689.6:n.1469+125_1469+133delinsGAGTCTCGC
ENST00000564091.6:c.396+125_396+133delinsGAGTCTCGC	ENSP00000454466.2:n.396+125_396+133delinsGAGTCTCGC
ENST00000565316.6:c.1005+125_1005+133delinsGAGTCTCGC	ENSP00000456117.1:n.1005+125_1005+133delinsGAGTCTCGC
ENST00000566824.6:n.1116+125_1116+133delinsGAGTCTCGC
ENST00000567963.6:c.894+125_894+133delinsGAGTCTCGC	ENSP00000455387.2:n.894+125_894+133delinsGAGTCTCGC
ENST00000568076.6:n.1485+125_1485+133delinsGAGTCTCGC
ENST00000568422.6:c.*293+125_*293+133delinsGAGTCTCGC	ENSP00000455549.2:n.*293+125_*293+133delinsGAGTCTCGC
ENST00000568452.6:n.1287+125_1287+133delinsGAGTCTCGC
ENST00000569430.7:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000454229.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000628023.3:c.*352+125_*352+133delinsGAGTCTCGC	ENSP00000486178.1:n.*352+125_*352+133delinsGAGTCTCGC
ENST00000635861.1:c.*708+125_*708+133delinsGAGTCTCGC	ENSP00000490034.1:n.*708+125_*708+133delinsGAGTCTCGC
ENST00000635887.1:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000490709.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000635958.1:n.1341+125_1341+133delinsGAGTCTCGC
ENST00000636017.1:c.*580+125_*580+133delinsGAGTCTCGC	ENSP00000490538.1:n.*580+125_*580+133delinsGAGTCTCGC
ENST00000636078.1:n.1178+125_1178+133delinsGAGTCTCGC
ENST00000636147.2:c.1056+125_1056+133delinsGAGTCTCGC MANE Select	ENSP00000490105.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000636172.1:c.*580+125_*580+133delinsGAGTCTCGC	ENSP00000490505.1:n.*580+125_*580+133delinsGAGTCTCGC
ENST00000636228.1:c.750+125_750+133delinsGAGTCTCGC	ENSP00000489627.1:n.750+125_750+133delinsGAGTCTCGC
ENST00000636351.1:n.950+125_950+133delinsGAGTCTCGC
ENST00000636503.1:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000489824.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000636685.1:n.737+125_737+133delinsGAGTCTCGC
ENST00000636766.1:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000489841.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000636839.1:n.1430+125_1430+133delinsGAGTCTCGC
ENST00000636853.1:n.1971+125_1971+133delinsGAGTCTCGC
ENST00000636866.1:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000490880.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000636907.1:n.1207+125_1207+133delinsGAGTCTCGC
ENST00000636977.1:n.2426+125_2426+133delinsGAGTCTCGC
ENST00000637050.1:n.1445+125_1445+133delinsGAGTCTCGC
ENST00000637100.1:c.1005+125_1005+133delinsGAGTCTCGC	ENSP00000490394.1:n.1005+125_1005+133delinsGAGTCTCGC
ENST00000637107.1:c.*580+125_*580+133delinsGAGTCTCGC	ENSP00000490248.1:n.*580+125_*580+133delinsGAGTCTCGC
ENST00000637184.1:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000489952.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000637299.1:c.*865+125_*865+133delinsGAGTCTCGC	ENSP00000489823.1:n.*865+125_*865+133delinsGAGTCTCGC
ENST00000637376.1:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000490758.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000637378.1:c.228+125_228+133delinsGAGTCTCGC	ENSP00000490831.1:n.228+125_228+133delinsGAGTCTCGC
ENST00000637578.1:c.*580+125_*580+133delinsGAGTCTCGC	ENSP00000490206.1:n.*580+125_*580+133delinsGAGTCTCGC
ENST00000637699.1:c.967+125_967+133delinsGAGTCTCGC	ENSP00000490049.1:n.967+125_967+133delinsGAGTCTCGC
ENST00000637745.1:c.395+125_395+133delinsGAGTCTCGC
ENST00000637871.1:c.*754+125_*754+133delinsGAGTCTCGC	ENSP00000490670.1:n.*754+125_*754+133delinsGAGTCTCGC
ENST00000638036.1:c.218+125_218+133delinsGAGTCTCGC
ENST00000333496.13:c.984+125_984+133delinsGAGTCTCGC	ENSP00000329171.9:n.984+125_984+133delinsGAGTCTCGC
ENST00000355477.9:c.*293+125_*293+133delinsGAGTCTCGC	ENSP00000347660.6:n.*293+125_*293+133delinsGAGTCTCGC
ENST00000357806.11:c.759+125_759+133delinsGAGTCTCGC	ENSP00000350457.7:n.759+125_759+133delinsGAGTCTCGC
ENST00000357857.13:c.894+125_894+133delinsGAGTCTCGC	ENSP00000350523.9:n.894+125_894+133delinsGAGTCTCGC
ENST00000359984.11:c.750+125_750+133delinsGAGTCTCGC	ENSP00000353073.8:n.750+125_750+133delinsGAGTCTCGC
ENST00000360019.6:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000353116.2:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000395653.8:c.756+125_756+133delinsGAGTCTCGC	ENSP00000379014.4:n.756+125_756+133delinsGAGTCTCGC
ENST00000561689.5:n.1025+125_1025+133delinsGAGTCTCGC
ENST00000563874.5:n.2584+125_2584+133delinsGAGTCTCGC
ENST00000564091.5:c.145+125_145+133delinsGAGTCTCGC
ENST00000565140.5:c.839+125_839+133delinsGAGTCTCGC	ENSP00000455342.1:n.839+125_839+133delinsGAGTCTCGC
ENST00000565316.5:c.1005+125_1005+133delinsGAGTCTCGC	ENSP00000456117.1:n.1005+125_1005+133delinsGAGTCTCGC
ENST00000565354.5:n.369+125_369+133delinsGAGTCTCGC
ENST00000566057.5:c.670+125_670+133delinsGAGTCTCGC	ENSP00000456693.1:n.670+125_670+133delinsGAGTCTCGC
ENST00000567963.5:c.906+497_906+505delinsGAGTCTCGC	ENSP00000455387.1:n.906+497_906+505delinsGAGTCTCGC
ENST00000568076.5:n.967+125_967+133delinsGAGTCTCGC
ENST00000568224.4:c.822+125_822+133delinsGAGTCTCGC	ENSP00000454253.1:n.822+125_822+133delinsGAGTCTCGC
ENST00000568422.5:c.*293+125_*293+133delinsGAGTCTCGC	ENSP00000455549.1:n.*293+125_*293+133delinsGAGTCTCGC
ENST00000568452.5:n.1184+125_1184+133delinsGAGTCTCGC
ENST00000569030.5:c.726+125_726+133delinsGAGTCTCGC	ENSP00000454680.1:n.726+125_726+133delinsGAGTCTCGC
ENST00000569430.5:c.1056+125_1056+133delinsGAGTCTCGC	ENSP00000454229.1:n.1056+125_1056+133delinsGAGTCTCGC
ENST00000628023.2:c.*352+125_*352+133delinsGAGTCTCGC	ENSP00000486178.1:n.*352+125_*352+133delinsGAGTCTCGC
ENST00000631023.2:c.906+497_906+505delinsGAGTCTCGC	ENSP00000486616.1:n.906+497_906+505delinsGAGTCTCGC
NM_000086.2:c.1056+125_1056+133delinsGAGTCTCGC , LRG_689t1:c.1056+125_1056+133delinsGAGTCTCGC	NP_000077.1:n.1056+125_1056+133delinsGAGTCTCGC
NM_001042432.1:c.1056+125_1056+133delinsGAGTCTCGC , LRG_689t2:c.1056+125_1056+133delinsGAGTCTCGC	NP_001035897.1:n.1056+125_1056+133delinsGAGTCTCGC
NM_001286104.1:c.984+125_984+133delinsGAGTCTCGC	NP_001273033.1:n.984+125_984+133delinsGAGTCTCGC
NM_001286105.1:c.756+125_756+133delinsGAGTCTCGC	NP_001273034.1:n.756+125_756+133delinsGAGTCTCGC
NM_001286109.1:c.822+125_822+133delinsGAGTCTCGC	NP_001273038.1:n.822+125_822+133delinsGAGTCTCGC
NM_001286110.1:c.894+125_894+133delinsGAGTCTCGC	NP_001273039.1:n.894+125_894+133delinsGAGTCTCGC
NM_001042432.2:c.1056+125_1056+133delinsGAGTCTCGC MANE Select	NP_001035897.1:n.1056+125_1056+133delinsGAGTCTCGC
NM_001286104.2:c.984+125_984+133delinsGAGTCTCGC	NP_001273033.1:n.984+125_984+133delinsGAGTCTCGC
NM_001286105.2:c.756+125_756+133delinsGAGTCTCGC	NP_001273034.1:n.756+125_756+133delinsGAGTCTCGC
NM_001286109.2:c.822+125_822+133delinsGAGTCTCGC	NP_001273038.1:n.822+125_822+133delinsGAGTCTCGC
NM_001286110.2:c.894+125_894+133delinsGAGTCTCGC	NP_001273039.1:n.894+125_894+133delinsGAGTCTCGC