Canonical Allele Identifier: CA16041180
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370553
ClinVar RCV Id: RCV000410063
dbSNP Id: rs1057516582
MyVariant Identifiers: chr8:g.1719483del (hg19) chr8:g.1771317del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1771317del , CM000670.2:g.1771317del GRCh38
NC_000008.10:g.1719483del , CM000670.1:g.1719483del GRCh37
NC_000008.9:g.1706890del NCBI36
NG_008656.2:g.20540del , LRG_691:g.20540del

Transcript Alleles

HGVS Amino-acid change
ENST00000331222.6:c.263del MANE Select ENSP00000328182.4:p.Asp88AlafsTer?
ENST00000519254.2:c.263del ENSP00000490016.1:p.Asp88AlafsTer?
ENST00000520991.3:c.263del ENSP00000487905.2:p.Asp88AlafsTer?
ENST00000524258.2:c.263del ENSP00000488898.2:p.Asp88AlafsTer?
ENST00000635751.1:c.263del ENSP00000489694.1:p.Asp88AlafsTer?
ENST00000635773.1:c.216del
ENST00000635855.1:c.263del ENSP00000489726.1:p.Asp88AlafsTer?
ENST00000635970.1:c.263del ENSP00000490439.1:p.Asp88AlafsTer?
ENST00000636175.1:c.63del
ENST00000636934.1:c.263del ENSP00000490218.1:p.Asp88AlafsTer?
ENST00000637083.1:c.263del ENSP00000490235.1:p.Asp88AlafsTer?
ENST00000637156.1:c.263del ENSP00000490458.1:p.Asp88AlafsTer?
ENST00000331222.4:c.263del ENSP00000328182.4:p.Asp88AlafsTer?
ENST00000520991.2:c.263del ENSP00000487905.1:p.Asp88AlafsTer?
NM_018941.3:c.263del , LRG_691t1:c.263del NP_061764.2:p.Asp88AlafsTer?
XM_005266021.3:c.263del XP_005266078.1:p.Asp88AlafsTer?
XM_005266022.1:c.263del XP_005266079.1:p.Asp88AlafsTer?
XM_005266023.1:c.263del XP_005266080.1:p.Asp88AlafsTer?
XM_011534745.1:c.263del XP_011533047.1:p.Asp88AlafsTer?
XM_011534746.1:c.263del XP_011533048.1:p.Asp88AlafsTer?
XM_011534747.1:c.263del XP_011533049.1:p.Asp88AlafsTer?
XM_005266021.4:c.263del XP_005266078.1:p.Asp88AlafsTer?
XM_011534746.2:c.263del XP_011533048.1:p.Asp88AlafsTer?
XM_011534747.2:c.263del XP_011533049.1:p.Asp88AlafsTer?
NM_018941.4:c.263del MANE Select NP_061764.2:p.Asp88AlafsTer?
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