Canonical Allele Identifier: CA1757673327

Gene: CLN8

Linked Data

• dbSNP Id: rs1801690517

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780667_1780668dup , CM000670.2:g.1780667_1780668dup	GRCh38
NC_000008.10:g.1728833_1728834dup , CM000670.1:g.1728833_1728834dup	GRCh37
NC_000008.9:g.1716240_1716241dup	NCBI36
NG_008656.2:g.29890_29891dup , LRG_691:g.29890_29891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.*100_*101dup MANE Select	ENSP00000328182.4:n.*100_*101dup
ENST00000519254.2:c.*100_*101dup	ENSP00000490016.1:n.*100_*101dup
ENST00000520991.3:c.*372_*373dup	ENSP00000487905.2:n.*372_*373dup
ENST00000635751.1:c.*100_*101dup	ENSP00000489694.1:n.*100_*101dup
ENST00000635773.1:c.496+9070_496+9071dup
ENST00000635855.1:c.543+9070_543+9071dup	ENSP00000489726.1:n.543+9070_543+9071dup
ENST00000635970.1:c.*100_*101dup	ENSP00000490439.1:n.*100_*101dup
ENST00000636175.1:c.343+9070_343+9071dup
ENST00000636934.1:c.543+9070_543+9071dup	ENSP00000490218.1:n.543+9070_543+9071dup
ENST00000637083.1:c.*100_*101dup	ENSP00000490235.1:n.*100_*101dup
ENST00000637156.1:c.*100_*101dup	ENSP00000490458.1:n.*100_*101dup
ENST00000331222.4:c.*100_*101dup	ENSP00000328182.4:n.*100_*101dup
ENST00000519254.1:n.480_481dup
ENST00000523237.1:n.736_737dup
NM_018941.3:c.*100_*101dup , LRG_691t1:c.*100_*101dup	NP_061764.2:n.*100_*101dup
XM_005266021.3:c.*100_*101dup	XP_005266078.1:n.*100_*101dup
XM_005266022.1:c.*100_*101dup	XP_005266079.1:n.*100_*101dup
XM_005266023.1:c.*100_*101dup	XP_005266080.1:n.*100_*101dup
XM_011534745.1:c.*100_*101dup	XP_011533047.1:n.*100_*101dup
XM_011534746.1:c.*100_*101dup	XP_011533048.1:n.*100_*101dup
XM_005266021.4:c.*100_*101dup	XP_005266078.1:n.*100_*101dup
XM_011534746.2:c.*100_*101dup	XP_011533048.1:n.*100_*101dup
NM_018941.4:c.*100_*101dup MANE Select	NP_061764.2:n.*100_*101dup