Canonical Allele Identifier: CA264179

Gene: CLN8

Linked Data

• ClinVar Variation Id: 56713
• ClinVar RCV Id: RCV000050126 ; RCV001385516
• dbSNP Id: rs386834132
• gnomAD v2: 8-1728430-GTC-G
• gnomAD v4: 8-1780264-GTC-G
• MyVariant Identifiers: chr8:g.1728434_1728435del (hg19) ; chr8:g.1728431_1728432del (hg19) ; chr8:g.1780268_1780269del (hg38) ; chr8:g.1780265_1780266del (hg38)
• PubMed: PMID:10861296 ; PMID:15160397 ; PMID:22220808

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780268_1780269del , CM000670.2:g.1780268_1780269del	GRCh38
NC_000008.10:g.1728434_1728435del , CM000670.1:g.1728434_1728435del	GRCh37
NC_000008.9:g.1715841_1715842del	NCBI36
NG_008656.2:g.29491_29492del , LRG_691:g.29491_29492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.562_563del MANE Select	ENSP00000328182.4:p.Leu188ValfsTer?
ENST00000519254.2:c.562_563del	ENSP00000490016.1:p.Leu188ValfsTer?
ENST00000520991.3:c.624_625del	ENSP00000487905.2:p.Cys209PhefsTer?
ENST00000635751.1:c.562_563del	ENSP00000489694.1:p.Leu188ValfsTer?
ENST00000635773.1:c.496+8671_496+8672del
ENST00000635855.1:c.543+8671_543+8672del	ENSP00000489726.1:n.543+8671_543+8672del
ENST00000635970.1:c.562_563del	ENSP00000490439.1:p.Leu188ValfsTer?
ENST00000636175.1:c.343+8671_343+8672del
ENST00000636934.1:c.543+8671_543+8672del	ENSP00000490218.1:n.543+8671_543+8672del
ENST00000637083.1:c.562_563del	ENSP00000490235.1:p.Leu188ValfsTer?
ENST00000637156.1:c.562_563del	ENSP00000490458.1:p.Leu188ValfsTer?
ENST00000331222.4:c.562_563del	ENSP00000328182.4:p.Leu188ValfsTer?
ENST00000519254.1:n.81_82del
ENST00000523237.1:n.337_338del
NM_018941.3:c.562_563del , LRG_691t1:c.562_563del	NP_061764.2:p.Leu188ValfsTer?
XM_005266021.3:c.562_563del	XP_005266078.1:p.Leu188ValfsTer?
XM_005266022.1:c.562_563del	XP_005266079.1:p.Leu188ValfsTer?
XM_005266023.1:c.562_563del	XP_005266080.1:p.Leu188ValfsTer?
XM_011534745.1:c.562_563del	XP_011533047.1:p.Leu188ValfsTer?
XM_011534746.1:c.562_563del	XP_011533048.1:p.Leu188ValfsTer?
XM_005266021.4:c.562_563del	XP_005266078.1:p.Leu188ValfsTer?
XM_011534746.2:c.562_563del	XP_011533048.1:p.Leu188ValfsTer?
NM_018941.4:c.562_563del MANE Select	NP_061764.2:p.Leu188ValfsTer?