Canonical Allele Identifier: CA2695197629

Gene: CLN3

Linked Data

• ClinVar Variation Id: 2680815
• ClinVar RCV Id: RCV003468455

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484119_28484122del , CM000678.2:g.28484119_28484122del	GRCh38
NC_000016.9:g.28495440_28495443del , CM000678.1:g.28495440_28495443del	GRCh37
NC_000016.8:g.28402941_28402944del	NCBI36
NG_008654.2:g.13184_13187del , LRG_689:g.13184_13187del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.606-1_608del
ENST00000355477.10:c.534-1_536del
ENST00000357857.14:c.516-1_518del
ENST00000359984.12:c.678-1_680del
ENST00000360019.8:c.606-1_608del
ENST00000395653.9:c.219-1_221del
ENST00000561689.6:n.963-1_965del
ENST00000564091.6:c.18-1_20del
ENST00000565316.6:c.678-1_680del
ENST00000565778.6:c.309-1_311del
ENST00000566083.6:n.1136-1_1138del
ENST00000566824.6:n.658-1_660del
ENST00000567495.6:c.*137-1_*139del
ENST00000567963.6:c.516-1_518del
ENST00000568076.6:n.805-1_807del
ENST00000568422.6:c.461-1_463del
ENST00000568452.6:n.781-1_783del
ENST00000568472.6:n.554-1_556del
ENST00000568497.6:c.-292-1_-290del
ENST00000568558.6:c.381-1_383del
ENST00000569430.7:c.678-1_680del
ENST00000628023.3:c.223-1_225del
ENST00000635861.1:c.*202-1_*204del
ENST00000635887.1:c.678-1_680del
ENST00000635958.1:n.789-1_791del
ENST00000635973.1:c.429-1_431del
ENST00000636017.1:c.*202-1_*204del
ENST00000636078.1:n.720-1_722del
ENST00000636147.2:c.678-1_680del
ENST00000636172.1:c.*202-1_*204del
ENST00000636228.1:c.372-1_374del
ENST00000636351.1:n.398-1_400del
ENST00000636503.1:c.678-1_680del
ENST00000636685.1:n.184_187del
ENST00000636766.1:c.678-1_680del
ENST00000636839.1:n.830-1_832del
ENST00000636853.1:n.1593-1_1595del
ENST00000636866.1:c.678-1_680del
ENST00000636907.1:n.828_831del
ENST00000636977.1:n.1746-1_1748del
ENST00000637050.1:n.764_767del
ENST00000637100.1:c.678-1_680del
ENST00000637107.1:c.*202-1_*204del
ENST00000637184.1:c.678-1_680del
ENST00000637299.1:c.*487-1_*489del
ENST00000637376.1:c.678-1_680del
ENST00000637578.1:c.*202-1_*204del
ENST00000637699.1:c.461-1_463del
ENST00000637745.1:c.17-1_19del
ENST00000637871.1:c.*202-1_*204del
ENST00000333496.13:c.606-1_608del
ENST00000355477.9:c.461-1_463del
ENST00000357806.11:c.381-1_383del
ENST00000357857.13:c.516-1_518del
ENST00000359984.11:c.372-1_374del
ENST00000360019.6:c.678-1_680del
ENST00000395653.8:c.378-1_380del
ENST00000561689.5:n.519-1_521del
ENST00000563874.5:n.2032-1_2034del
ENST00000564574.5:n.726-1_728del
ENST00000565047.1:n.272-1_274del
ENST00000565140.5:c.461-1_463del
ENST00000565316.5:c.678-1_680del
ENST00000565688.5:c.429-1_431del
ENST00000565778.5:c.309-1_311del
ENST00000566057.5:c.292-1_294del
ENST00000566083.5:n.909-1_911del
ENST00000566824.5:n.727-1_729del
ENST00000567495.5:c.461-1_463del
ENST00000567963.5:c.678-1_680del
ENST00000568076.5:n.461-1_463del
ENST00000568224.4:c.444-1_446del
ENST00000568422.5:c.314-1_316del
ENST00000568452.5:n.678-1_680del
ENST00000568472.5:n.158-1_160del
ENST00000568497.5:c.223-1_225del
ENST00000568558.5:c.219-1_221del
ENST00000569030.5:c.461-1447_461-1444del	ENSP00000454680.1:n.461-1447_461-1444del
ENST00000569430.5:c.678-1_680del
ENST00000628023.2:c.223-1_225del
ENST00000631023.2:c.678-1_680del
NM_000086.2:c.678-1_680del , LRG_689t1:c.678-1_680del
NM_001042432.1:c.678-1_680del , LRG_689t2:c.678-1_680del
NM_001286104.1:c.606-1_608del
NM_001286105.1:c.378-1_380del
NM_001286109.1:c.444-1_446del
NM_001286110.1:c.516-1_518del
NM_001042432.2:c.678-1_680del
NM_001286104.2:c.606-1_608del
NM_001286105.2:c.378-1_380del
NM_001286109.2:c.444-1_446del
NM_001286110.2:c.516-1_518del