Canonical Allele Identifier: CA2580091392
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2069219
ClinVar RCV Id: RCV002961992

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482090_28482115del , CM000678.2:g.28482090_28482115del GRCh38
NC_000016.9:g.28493411_28493436del , CM000678.1:g.28493411_28493436del GRCh37
NC_000016.8:g.28400912_28400937del NCBI36
NG_008654.2:g.15192_15217del , LRG_689:g.15192_15217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.978_984+19del
ENST00000355477.10:c.906_912+19del
ENST00000357857.14:c.888_894+19del
ENST00000359984.12:c.1050_1056+19del
ENST00000360019.8:c.978_984+19del
ENST00000395653.9:c.591_597+19del
ENST00000561689.6:n.1463_1469+19del
ENST00000564091.6:c.390_396+19del
ENST00000565316.6:c.999_1005+19del
ENST00000566824.6:n.1110_1116+19del
ENST00000567963.6:c.888_894+19del
ENST00000568076.6:n.1479_1485+19del
ENST00000568422.6:c.*287_*293+19del
ENST00000568452.6:n.1281_1287+19del
ENST00000569430.7:c.1050_1056+19del
ENST00000628023.3:c.*346_*352+19del
ENST00000635861.1:c.*702_*708+19del
ENST00000635887.1:c.1050_1056+19del
ENST00000635958.1:n.1335_1341+19del
ENST00000636017.1:c.*574_*580+19del
ENST00000636078.1:n.1172_1178+19del
ENST00000636147.2:c.1050_1056+19del
ENST00000636172.1:c.*574_*580+19del
ENST00000636228.1:c.744_750+19del
ENST00000636351.1:n.944_950+19del
ENST00000636503.1:c.1050_1056+19del
ENST00000636685.1:n.731_737+19del
ENST00000636766.1:c.1050_1056+19del
ENST00000636839.1:n.1424_1430+19del
ENST00000636853.1:n.1965_1971+19del
ENST00000636866.1:c.1050_1056+19del
ENST00000636907.1:n.1201_1207+19del
ENST00000636977.1:n.2420_2426+19del
ENST00000637050.1:n.1439_1445+19del
ENST00000637100.1:c.999_1005+19del
ENST00000637107.1:c.*574_*580+19del
ENST00000637184.1:c.1050_1056+19del
ENST00000637299.1:c.*859_*865+19del
ENST00000637376.1:c.1050_1056+19del
ENST00000637378.1:c.222_228+19del
ENST00000637578.1:c.*574_*580+19del
ENST00000637699.1:c.961_967+19del
ENST00000637745.1:c.389_395+19del
ENST00000637871.1:c.*748_*754+19del
ENST00000638036.1:c.212_218+19del
ENST00000333496.13:c.978_984+19del
ENST00000355477.9:c.*287_*293+19del
ENST00000357806.11:c.753_759+19del
ENST00000357857.13:c.888_894+19del
ENST00000359984.11:c.744_750+19del
ENST00000360019.6:c.1050_1056+19del
ENST00000395653.8:c.750_756+19del
ENST00000561689.5:n.1019_1025+19del
ENST00000563874.5:n.2578_2584+19del
ENST00000564091.5:c.139_145+19del
ENST00000565140.5:c.833_839+19del
ENST00000565316.5:c.999_1005+19del
ENST00000565354.5:n.363_369+19del
ENST00000566057.5:c.664_670+19del
ENST00000567963.5:c.906+366_906+391del ENSP00000455387.1:n.906+366_906+391del
ENST00000568076.5:n.961_967+19del
ENST00000568224.4:c.816_822+19del
ENST00000568422.5:c.*287_*293+19del
ENST00000568452.5:n.1178_1184+19del
ENST00000569030.5:c.720_726+19del
ENST00000569430.5:c.1050_1056+19del
ENST00000628023.2:c.*346_*352+19del
ENST00000631023.2:c.906+366_906+391del ENSP00000486616.1:n.906+366_906+391del
NM_000086.2:c.1050_1056+19del , LRG_689t1:c.1050_1056+19del
NM_001042432.1:c.1050_1056+19del , LRG_689t2:c.1050_1056+19del
NM_001286104.1:c.978_984+19del
NM_001286105.1:c.750_756+19del
NM_001286109.1:c.816_822+19del
NM_001286110.1:c.888_894+19del
NM_001042432.2:c.1050_1056+19del
NM_001286104.2:c.978_984+19del
NM_001286105.2:c.750_756+19del
NM_001286109.2:c.816_822+19del
NM_001286110.2:c.888_894+19del