Canonical Allele Identifier: CA1109667745

Gene: CLN8

Linked Data

• dbSNP Id: rs1801673805
• gnomAD v3: 8-1780323-T-TTC
• gnomAD v4: 8-1780323-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780325_1780326dup , CM000670.2:g.1780325_1780326dup	GRCh38
NC_000008.10:g.1728491_1728492dup , CM000670.1:g.1728491_1728492dup	GRCh37
NC_000008.9:g.1715898_1715899dup	NCBI36
NG_008656.2:g.29548_29549dup , LRG_691:g.29548_29549dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000331222.6:c.619_620dup MANE Select	ENSP00000328182.4:p.Thr208Ter
ENST00000519254.2:c.619_620dup	ENSP00000490016.1:p.Thr208Ter
ENST00000520991.3:c.*30_*31dup	ENSP00000487905.2:n.*30_*31dup
ENST00000635751.1:c.619_620dup	ENSP00000489694.1:p.Thr208Ter
ENST00000635773.1:c.496+8728_496+8729dup
ENST00000635855.1:c.543+8728_543+8729dup	ENSP00000489726.1:n.543+8728_543+8729dup
ENST00000635970.1:c.619_620dup	ENSP00000490439.1:p.Thr208Ter
ENST00000636175.1:c.343+8728_343+8729dup
ENST00000636934.1:c.543+8728_543+8729dup	ENSP00000490218.1:n.543+8728_543+8729dup
ENST00000637083.1:c.619_620dup	ENSP00000490235.1:p.Thr208Ter
ENST00000637156.1:c.619_620dup	ENSP00000490458.1:p.Thr208Ter
ENST00000331222.4:c.619_620dup	ENSP00000328182.4:p.Thr208Ter
ENST00000519254.1:n.138_139dup
ENST00000523237.1:n.394_395dup
NM_018941.3:c.619_620dup , LRG_691t1:c.619_620dup	NP_061764.2:p.Thr208Ter
XM_005266021.3:c.619_620dup	XP_005266078.1:p.Thr208Ter
XM_005266022.1:c.619_620dup	XP_005266079.1:p.Thr208Ter
XM_005266023.1:c.619_620dup	XP_005266080.1:p.Thr208Ter
XM_011534745.1:c.619_620dup	XP_011533047.1:p.Thr208Ter
XM_011534746.1:c.619_620dup	XP_011533048.1:p.Thr208Ter
XM_005266021.4:c.619_620dup	XP_005266078.1:p.Thr208Ter
XM_011534746.2:c.619_620dup	XP_011533048.1:p.Thr208Ter
NM_018941.4:c.619_620dup MANE Select	NP_061764.2:p.Thr208Ter