Canonical Allele Identifier: CA1139532403

Gene: CLN8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1777687_1780299del , CM000670.2:g.1777687_1780299del	GRCh38
NC_000008.10:g.1725853_1728465del , CM000670.1:g.1725853_1728465del	GRCh37
NC_000008.9:g.1713260_1715872del	NCBI36
NG_008656.2:g.26910_29522del , LRG_691:g.26910_29522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.544-2563_593del
ENST00000519254.2:c.544-2563_593del
ENST00000520991.3:c.606-2563_*4del
ENST00000635751.1:c.544-2563_593del
ENST00000635773.1:c.496+6090_496+8702del
ENST00000635855.1:c.543+6090_543+8702del	ENSP00000489726.1:n.543+6090_543+8702del
ENST00000635970.1:c.544-2563_593del
ENST00000636175.1:c.343+6090_343+8702del
ENST00000636934.1:c.543+6090_543+8702del	ENSP00000490218.1:n.543+6090_543+8702del
ENST00000637083.1:c.544-2563_593del
ENST00000637156.1:c.544-2563_593del
ENST00000331222.4:c.544-2563_593del
ENST00000519254.1:n.63-2563_112del
ENST00000523237.1:n.319-2563_368del
NM_018941.3:c.544-2563_593del , LRG_691t1:c.544-2563_593del
XM_005266021.3:c.544-2563_593del
XM_005266022.1:c.544-2563_593del
XM_005266023.1:c.544-2563_593del
XM_011534745.1:c.544-2563_593del
XM_011534746.1:c.544-2563_593del
XM_005266021.4:c.544-2563_593del
XM_011534746.2:c.544-2563_593del
NM_018941.4:c.544-2563_593del