Canonical Allele Identifier: CA913190934

Gene: CLN3

Linked Data

• ClinVar Variation Id: 632772
• ClinVar RCV Id: RCV000780190

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28480687_28483501del , CM000678.2:g.28480687_28483501del	GRCh38
NC_000016.9:g.28492008_28494822del , CM000678.1:g.28492008_28494822del	GRCh37
NC_000016.8:g.28399509_28402323del	NCBI36
NG_008654.2:g.13829_16643del , LRG_689:g.13829_16643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.718+532_984+1445del
ENST00000355477.10:c.646+532_912+1445del
ENST00000357857.14:c.628+532_894+1445del
ENST00000359984.12:c.790+532_1056+1445del
ENST00000360019.8:c.718+532_984+1445del
ENST00000395653.9:c.331+532_597+1445del
ENST00000561689.6:n.1075+532_1469+1445del
ENST00000564091.6:c.130+532_396+1445del
ENST00000565316.6:c.790+532_1005+1445del
ENST00000566824.6:n.770+532_1117-895del
ENST00000567963.6:c.628+532_894+1445del
ENST00000568076.6:n.917+532_1485+1445del
ENST00000568422.6:c.*27+532_*293+1445del
ENST00000568452.6:n.893+532_1287+1445del
ENST00000569430.7:c.790+532_1056+1445del
ENST00000628023.3:c.*86+532_*352+1445del
ENST00000635861.1:c.*314+532_*708+1445del
ENST00000635887.1:c.790+532_1056+1445del
ENST00000635958.1:n.901+532_1342-895del
ENST00000636017.1:c.*314+532_*580+1445del
ENST00000636078.1:n.832+532_1178+1445del
ENST00000636147.2:c.790+532_1056+1445del
ENST00000636172.1:c.*314+532_*580+1445del
ENST00000636228.1:c.484+532_750+1445del
ENST00000636351.1:n.510+532_950+1445del
ENST00000636503.1:c.790+532_1057-895del
ENST00000636685.1:n.297+532_737+1445del
ENST00000636766.1:c.790+532_1056+1445del
ENST00000636839.1:n.942+532_1431-895del
ENST00000636853.1:n.1705+532_1972-919del
ENST00000636866.1:c.790+532_1056+1445del
ENST00000636907.1:n.941+532_1207+1445del
ENST00000636977.1:n.1858+532_2427-895del
ENST00000637050.1:n.877+532_1445+1445del
ENST00000637100.1:c.790+532_1005+1445del
ENST00000637107.1:c.*314+532_*580+1445del
ENST00000637184.1:c.790+532_1057-895del
ENST00000637299.1:c.*599+532_*865+1445del
ENST00000637376.1:c.790+532_1057-895del
ENST00000637578.1:c.*314+532_*580+1445del
ENST00000637699.1:c.573+532_967+1445del
ENST00000637745.1:c.129+532_396-919del
ENST00000637871.1:c.*314+532_*754+1445del
ENST00000333496.13:c.718+532_984+1445del
ENST00000355477.9:c.*27+532_*293+1445del
ENST00000357806.11:c.493+532_759+1445del
ENST00000357857.13:c.628+532_894+1445del
ENST00000359984.11:c.484+532_750+1445del
ENST00000360019.6:c.790+532_1056+1445del
ENST00000395653.8:c.490+532_756+1445del
ENST00000561689.5:n.631+532_1025+1445del
ENST00000563874.5:n.2144+532_2584+1445del
ENST00000565140.5:c.573+532_840-1074del
ENST00000565316.5:c.790+532_1005+1445del
ENST00000565354.5:n.9+532_369+1445del
ENST00000566057.5:c.404+532_670+1445del
ENST00000567963.5:c.790+532_906+1817del
ENST00000568076.5:n.573+532_967+1445del
ENST00000568224.4:c.556+532_822+1445del
ENST00000568422.5:c.*27+532_*293+1445del
ENST00000568452.5:n.790+532_1184+1445del
ENST00000569030.5:c.461-802_727-895del
ENST00000569430.5:c.790+532_1056+1445del
ENST00000628023.2:c.*86+532_*352+1445del
ENST00000631023.2:c.790+532_906+1817del
NM_000086.2:c.790+532_1056+1445del , LRG_689t1:c.790+532_1056+1445del
NM_001042432.1:c.790+532_1056+1445del , LRG_689t2:c.790+532_1056+1445del
NM_001286104.1:c.718+532_984+1445del
NM_001286105.1:c.490+532_756+1445del
NM_001286109.1:c.556+532_822+1445del
NM_001286110.1:c.628+532_894+1445del
NM_001042432.2:c.790+532_1056+1445del
NM_001286104.2:c.718+532_984+1445del
NM_001286105.2:c.490+532_756+1445del
NM_001286109.2:c.556+532_822+1445del
NM_001286110.2:c.628+532_894+1445del