Canonical Allele Identifier: CA16041179
Gene: CLN8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370918
ClinVar RCV Id: RCV000409684
dbSNP Id: rs1057516867

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1771101del , CM000670.2:g.1771101del GRCh38
NC_000008.10:g.1719267del , CM000670.1:g.1719267del GRCh37
NC_000008.9:g.1706674del NCBI36
NG_008656.2:g.20324del , LRG_691:g.20324del

Transcript Alleles

HGVS Amino-acid change
NM_018941.3:c.47del , LRG_691t1:c.47del NP_061764.2:p.Leu16ArgfsTer12
XM_005266021.3:c.47del XP_005266078.1:p.Leu16ArgfsTer12
XM_005266022.1:c.47del XP_005266079.1:p.Leu16ArgfsTer12
XM_005266023.1:c.47del XP_005266080.1:p.Leu16ArgfsTer12
XM_011534745.1:c.47del XP_011533047.1:p.Leu16ArgfsTer12
XM_011534746.1:c.47del XP_011533048.1:p.Leu16ArgfsTer12
XM_011534747.1:c.47del XP_011533049.1:p.Leu16ArgfsTer12
XM_005266021.4:c.47del
XM_011534746.2:c.47del
XM_011534747.2:c.47del
ENST00000331222.4:c.47del ENSP00000328182.4:p.Leu16ArgfsTer12
ENST00000520991.2:c.47del ENSP00000487905.1:p.Leu16ArgfsTer12
ENST00000524258.1:c.47del ENSP00000488898.1:p.Leu16ArgfsTer12