Canonical Allele Identifier: CA16041788
Gene: CLN3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370233
ClinVar RCV Id: RCV000411858
dbSNP Id: rs1057516335

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28484115dup , CM000678.2:g.28484115dup GRCh38
NC_000016.9:g.28495436dup , CM000678.1:g.28495436dup GRCh37
NC_000016.8:g.28402937dup NCBI36
NG_008654.2:g.13190dup , LRG_689:g.13190dup

Transcript Alleles

HGVS Amino-acid change
NM_000086.2:c.683dup , LRG_689t1:c.683dup
NM_001042432.1:c.683dup , LRG_689t2:c.683dup
NM_001286104.1:c.611dup VV
NM_001286105.1:c.383dup VV
NM_001286109.1:c.449dup VV
NM_001286110.1:c.521dup VV
ENST00000333496.13:c.611dup
ENST00000355477.9:c.466dup
ENST00000357806.11:c.386dup
ENST00000357857.13:c.521dup
ENST00000359984.11:c.377dup
ENST00000360019.6:c.683dup
ENST00000395653.8:c.383dup
ENST00000561689.5:n.524dup
ENST00000563874.5:n.2037dup
ENST00000564574.5:n.731dup
ENST00000565047.1:n.277dup
ENST00000565140.5:n.466dup
ENST00000565316.5:n.683dup
ENST00000565688.5:c.434dup
ENST00000565778.5:c.314dup
ENST00000566057.5:n.297dup
ENST00000566083.5:n.914dup
ENST00000566824.5:n.732dup
ENST00000567495.5:c.466dup
ENST00000567963.5:c.683dup
ENST00000568076.5:n.466dup
ENST00000568224.4:c.449dup
ENST00000568422.5:c.319dup
ENST00000568452.5:n.683dup
ENST00000568472.5:n.163dup
ENST00000568497.5:c.228dup
ENST00000568558.5:c.224dup
ENST00000569030.5:n.461-1441dup ENSP00000454680.1:p.=
ENST00000569430.5:c.683dup
ENST00000628023.2:c.228dup
ENST00000631023.2:c.683dup