Canonical Allele Identifier: CA2215697610
Gene: CLN3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482014_28482030delinsCCACTGATAGTGGGAAG , CM000678.2:g.28482014_28482030delinsCCACTGATAGTGGGAAG GRCh38
NC_000016.9:g.28493335_28493351delinsCCACTGATAGTGGGAAG , CM000678.1:g.28493335_28493351delinsCCACTGATAGTGGGAAG GRCh37
NC_000016.8:g.28400836_28400852delinsCCACTGATAGTGGGAAG NCBI36
NG_008654.2:g.15273_15289delinsCTTCCCACTATCAGTGG , LRG_689:g.15273_15289delinsCTTCCCACTATCAGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.984+75_984+91delinsCTTCCCACTATCAGTGG ENSP00000329171.9:n.984+75_984+91delinsCTTCCCACTATCAGTGG
ENST00000355477.10:c.912+75_912+91delinsCTTCCCACTATCAGTGG ENSP00000347660.7:n.912+75_912+91delinsCTTCCCACTATCAGTGG
ENST00000357857.14:c.894+75_894+91delinsCTTCCCACTATCAGTGG ENSP00000350523.9:n.894+75_894+91delinsCTTCCCACTATCAGTGG
ENST00000359984.12:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000353073.9:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000360019.8:c.984+75_984+91delinsCTTCCCACTATCAGTGG ENSP00000353116.3:n.984+75_984+91delinsCTTCCCACTATCAGTGG
ENST00000395653.9:c.597+75_597+91delinsCTTCCCACTATCAGTGG ENSP00000379014.5:n.597+75_597+91delinsCTTCCCACTATCAGTGG
ENST00000561689.6:n.1469+75_1469+91delinsCTTCCCACTATCAGTGG
ENST00000564091.6:c.396+75_396+91delinsCTTCCCACTATCAGTGG ENSP00000454466.2:n.396+75_396+91delinsCTTCCCACTATCAGTGG
ENST00000565316.6:c.1005+75_1005+91delinsCTTCCCACTATCAGTGG ENSP00000456117.1:n.1005+75_1005+91delinsCTTCCCACTATCAGTGG
ENST00000566824.6:n.1116+75_1116+91delinsCTTCCCACTATCAGTGG
ENST00000567963.6:c.894+75_894+91delinsCTTCCCACTATCAGTGG ENSP00000455387.2:n.894+75_894+91delinsCTTCCCACTATCAGTGG
ENST00000568076.6:n.1485+75_1485+91delinsCTTCCCACTATCAGTGG
ENST00000568422.6:c.*293+75_*293+91delinsCTTCCCACTATCAGTGG ENSP00000455549.2:n.*293+75_*293+91delinsCTTCCCACTATCAGTGG
ENST00000568452.6:n.1287+75_1287+91delinsCTTCCCACTATCAGTGG
ENST00000569430.7:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000454229.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000628023.3:c.*352+75_*352+91delinsCTTCCCACTATCAGTGG ENSP00000486178.1:n.*352+75_*352+91delinsCTTCCCACTATCAGTGG
ENST00000635861.1:c.*708+75_*708+91delinsCTTCCCACTATCAGTGG ENSP00000490034.1:n.*708+75_*708+91delinsCTTCCCACTATCAGTGG
ENST00000635887.1:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000490709.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000635958.1:n.1341+75_1341+91delinsCTTCCCACTATCAGTGG
ENST00000636017.1:c.*580+75_*580+91delinsCTTCCCACTATCAGTGG ENSP00000490538.1:n.*580+75_*580+91delinsCTTCCCACTATCAGTGG
ENST00000636078.1:n.1178+75_1178+91delinsCTTCCCACTATCAGTGG
ENST00000636147.2:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG MANE Select ENSP00000490105.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000636172.1:c.*580+75_*580+91delinsCTTCCCACTATCAGTGG ENSP00000490505.1:n.*580+75_*580+91delinsCTTCCCACTATCAGTGG
ENST00000636228.1:c.750+75_750+91delinsCTTCCCACTATCAGTGG ENSP00000489627.1:n.750+75_750+91delinsCTTCCCACTATCAGTGG
ENST00000636351.1:n.950+75_950+91delinsCTTCCCACTATCAGTGG
ENST00000636503.1:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000489824.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000636685.1:n.737+75_737+91delinsCTTCCCACTATCAGTGG
ENST00000636766.1:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000489841.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000636839.1:n.1430+75_1430+91delinsCTTCCCACTATCAGTGG
ENST00000636853.1:n.1971+75_1971+91delinsCTTCCCACTATCAGTGG
ENST00000636866.1:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000490880.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000636907.1:n.1207+75_1207+91delinsCTTCCCACTATCAGTGG
ENST00000636977.1:n.2426+75_2426+91delinsCTTCCCACTATCAGTGG
ENST00000637050.1:n.1445+75_1445+91delinsCTTCCCACTATCAGTGG
ENST00000637100.1:c.1005+75_1005+91delinsCTTCCCACTATCAGTGG ENSP00000490394.1:n.1005+75_1005+91delinsCTTCCCACTATCAGTGG
ENST00000637107.1:c.*580+75_*580+91delinsCTTCCCACTATCAGTGG ENSP00000490248.1:n.*580+75_*580+91delinsCTTCCCACTATCAGTGG
ENST00000637184.1:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000489952.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000637299.1:c.*865+75_*865+91delinsCTTCCCACTATCAGTGG ENSP00000489823.1:n.*865+75_*865+91delinsCTTCCCACTATCAGTGG
ENST00000637376.1:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000490758.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000637378.1:c.228+75_228+91delinsCTTCCCACTATCAGTGG ENSP00000490831.1:n.228+75_228+91delinsCTTCCCACTATCAGTGG
ENST00000637578.1:c.*580+75_*580+91delinsCTTCCCACTATCAGTGG ENSP00000490206.1:n.*580+75_*580+91delinsCTTCCCACTATCAGTGG
ENST00000637699.1:c.967+75_967+91delinsCTTCCCACTATCAGTGG ENSP00000490049.1:n.967+75_967+91delinsCTTCCCACTATCAGTGG
ENST00000637745.1:c.395+75_395+91delinsCTTCCCACTATCAGTGG
ENST00000637871.1:c.*754+75_*754+91delinsCTTCCCACTATCAGTGG ENSP00000490670.1:n.*754+75_*754+91delinsCTTCCCACTATCAGTGG
ENST00000638036.1:c.218+75_218+91delinsCTTCCCACTATCAGTGG
ENST00000333496.13:c.984+75_984+91delinsCTTCCCACTATCAGTGG ENSP00000329171.9:n.984+75_984+91delinsCTTCCCACTATCAGTGG
ENST00000355477.9:c.*293+75_*293+91delinsCTTCCCACTATCAGTGG ENSP00000347660.6:n.*293+75_*293+91delinsCTTCCCACTATCAGTGG
ENST00000357806.11:c.759+75_759+91delinsCTTCCCACTATCAGTGG ENSP00000350457.7:n.759+75_759+91delinsCTTCCCACTATCAGTGG
ENST00000357857.13:c.894+75_894+91delinsCTTCCCACTATCAGTGG ENSP00000350523.9:n.894+75_894+91delinsCTTCCCACTATCAGTGG
ENST00000359984.11:c.750+75_750+91delinsCTTCCCACTATCAGTGG ENSP00000353073.8:n.750+75_750+91delinsCTTCCCACTATCAGTGG
ENST00000360019.6:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000353116.2:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000395653.8:c.756+75_756+91delinsCTTCCCACTATCAGTGG ENSP00000379014.4:n.756+75_756+91delinsCTTCCCACTATCAGTGG
ENST00000561689.5:n.1025+75_1025+91delinsCTTCCCACTATCAGTGG
ENST00000563874.5:n.2584+75_2584+91delinsCTTCCCACTATCAGTGG
ENST00000564091.5:c.145+75_145+91delinsCTTCCCACTATCAGTGG
ENST00000565140.5:c.839+75_839+91delinsCTTCCCACTATCAGTGG ENSP00000455342.1:n.839+75_839+91delinsCTTCCCACTATCAGTGG
ENST00000565316.5:c.1005+75_1005+91delinsCTTCCCACTATCAGTGG ENSP00000456117.1:n.1005+75_1005+91delinsCTTCCCACTATCAGTGG
ENST00000565354.5:n.369+75_369+91delinsCTTCCCACTATCAGTGG
ENST00000566057.5:c.670+75_670+91delinsCTTCCCACTATCAGTGG ENSP00000456693.1:n.670+75_670+91delinsCTTCCCACTATCAGTGG
ENST00000567963.5:c.906+447_906+463delinsCTTCCCACTATCAGTGG ENSP00000455387.1:n.906+447_906+463delinsCTTCCCACTATCAGTGG
ENST00000568076.5:n.967+75_967+91delinsCTTCCCACTATCAGTGG
ENST00000568224.4:c.822+75_822+91delinsCTTCCCACTATCAGTGG ENSP00000454253.1:n.822+75_822+91delinsCTTCCCACTATCAGTGG
ENST00000568422.5:c.*293+75_*293+91delinsCTTCCCACTATCAGTGG ENSP00000455549.1:n.*293+75_*293+91delinsCTTCCCACTATCAGTGG
ENST00000568452.5:n.1184+75_1184+91delinsCTTCCCACTATCAGTGG
ENST00000569030.5:c.726+75_726+91delinsCTTCCCACTATCAGTGG ENSP00000454680.1:n.726+75_726+91delinsCTTCCCACTATCAGTGG
ENST00000569430.5:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG ENSP00000454229.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
ENST00000628023.2:c.*352+75_*352+91delinsCTTCCCACTATCAGTGG ENSP00000486178.1:n.*352+75_*352+91delinsCTTCCCACTATCAGTGG
ENST00000631023.2:c.906+447_906+463delinsCTTCCCACTATCAGTGG ENSP00000486616.1:n.906+447_906+463delinsCTTCCCACTATCAGTGG
NM_000086.2:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG , LRG_689t1:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG NP_000077.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
NM_001042432.1:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG , LRG_689t2:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG NP_001035897.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
NM_001286104.1:c.984+75_984+91delinsCTTCCCACTATCAGTGG NP_001273033.1:n.984+75_984+91delinsCTTCCCACTATCAGTGG
NM_001286105.1:c.756+75_756+91delinsCTTCCCACTATCAGTGG NP_001273034.1:n.756+75_756+91delinsCTTCCCACTATCAGTGG
NM_001286109.1:c.822+75_822+91delinsCTTCCCACTATCAGTGG NP_001273038.1:n.822+75_822+91delinsCTTCCCACTATCAGTGG
NM_001286110.1:c.894+75_894+91delinsCTTCCCACTATCAGTGG NP_001273039.1:n.894+75_894+91delinsCTTCCCACTATCAGTGG
NM_001042432.2:c.1056+75_1056+91delinsCTTCCCACTATCAGTGG MANE Select NP_001035897.1:n.1056+75_1056+91delinsCTTCCCACTATCAGTGG
NM_001286104.2:c.984+75_984+91delinsCTTCCCACTATCAGTGG NP_001273033.1:n.984+75_984+91delinsCTTCCCACTATCAGTGG
NM_001286105.2:c.756+75_756+91delinsCTTCCCACTATCAGTGG NP_001273034.1:n.756+75_756+91delinsCTTCCCACTATCAGTGG
NM_001286109.2:c.822+75_822+91delinsCTTCCCACTATCAGTGG NP_001273038.1:n.822+75_822+91delinsCTTCCCACTATCAGTGG
NM_001286110.2:c.894+75_894+91delinsCTTCCCACTATCAGTGG NP_001273039.1:n.894+75_894+91delinsCTTCCCACTATCAGTGG
Search 100 bp 5'
Search 100 bp 3'