Canonical Allele Identifier: CA1757673340

Gene: CLN8

Linked Data

• dbSNP Id: rs1801691112
• gnomAD v4: 8-1780689-TACTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780693_1780696del , CM000670.2:g.1780693_1780696del	GRCh38
NC_000008.10:g.1728859_1728862del , CM000670.1:g.1728859_1728862del	GRCh37
NC_000008.9:g.1716266_1716269del	NCBI36
NG_008656.2:g.29916_29919del , LRG_691:g.29916_29919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.*126_*129del MANE Select	ENSP00000328182.4:n.*126_*129del
ENST00000519254.2:c.*126_*129del	ENSP00000490016.1:n.*126_*129del
ENST00000520991.3:c.*398_*401del	ENSP00000487905.2:n.*398_*401del
ENST00000635751.1:c.*126_*129del	ENSP00000489694.1:n.*126_*129del
ENST00000635773.1:c.496+9096_496+9099del
ENST00000635855.1:c.543+9096_543+9099del	ENSP00000489726.1:n.543+9096_543+9099del
ENST00000635970.1:c.*126_*129del	ENSP00000490439.1:n.*126_*129del
ENST00000636175.1:c.343+9096_343+9099del
ENST00000636934.1:c.543+9096_543+9099del	ENSP00000490218.1:n.543+9096_543+9099del
ENST00000637083.1:c.*126_*129del	ENSP00000490235.1:n.*126_*129del
ENST00000637156.1:c.*126_*129del	ENSP00000490458.1:n.*126_*129del
ENST00000331222.4:c.*126_*129del	ENSP00000328182.4:n.*126_*129del
ENST00000519254.1:n.506_509del
ENST00000523237.1:n.762_765del
NM_018941.3:c.*126_*129del , LRG_691t1:c.*126_*129del	NP_061764.2:n.*126_*129del
XM_005266021.3:c.*126_*129del	XP_005266078.1:n.*126_*129del
XM_005266022.1:c.*126_*129del	XP_005266079.1:n.*126_*129del
XM_005266023.1:c.*126_*129del	XP_005266080.1:n.*126_*129del
XM_011534745.1:c.*126_*129del	XP_011533047.1:n.*126_*129del
XM_011534746.1:c.*126_*129del	XP_011533048.1:n.*126_*129del
XM_005266021.4:c.*126_*129del	XP_005266078.1:n.*126_*129del
XM_011534746.2:c.*126_*129del	XP_011533048.1:n.*126_*129del
NM_018941.4:c.*126_*129del MANE Select	NP_061764.2:n.*126_*129del