Canonical Allele Identifier: CA264185

Gene: CLN8

Linked Data

• dbSNP Id: rs386834135
• gnomAD v4: 8-1780338-TGTG-T
• MyVariant Identifiers: chr8:g.1728509_1728511del (hg19) ; chr8:g.1780343_1780345del (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780343_1780345del , CM000670.2:g.1780343_1780345del	GRCh38
NC_000008.10:g.1728509_1728511del , CM000670.1:g.1728509_1728511del	GRCh37
NC_000008.9:g.1715916_1715918del	NCBI36
NG_008656.2:g.29566_29568del , LRG_691:g.29566_29568del

Transcript Alleles

HGVS	Amino-acid change
ENST00000331222.6:c.637_639del MANE Select	ENSP00000328182.4:p.Trp213del
ENST00000519254.2:c.637_639del	ENSP00000490016.1:p.Trp213del
ENST00000520991.3:c.*48_*50del	ENSP00000487905.2:n.*48_*50del
ENST00000635751.1:c.637_639del	ENSP00000489694.1:p.Trp213del
ENST00000635773.1:c.496+8746_496+8748del
ENST00000635855.1:c.543+8746_543+8748del	ENSP00000489726.1:n.543+8746_543+8748del
ENST00000635970.1:c.637_639del	ENSP00000490439.1:p.Trp213del
ENST00000636175.1:c.343+8746_343+8748del
ENST00000636934.1:c.543+8746_543+8748del	ENSP00000490218.1:n.543+8746_543+8748del
ENST00000637083.1:c.637_639del	ENSP00000490235.1:p.Trp213del
ENST00000637156.1:c.637_639del	ENSP00000490458.1:p.Trp213del
ENST00000331222.4:c.637_639del	ENSP00000328182.4:p.Trp213del
ENST00000519254.1:n.156_158del
ENST00000523237.1:n.412_414del
NM_018941.3:c.637_639del , LRG_691t1:c.637_639del	NP_061764.2:p.Trp213del
XM_005266021.3:c.637_639del	XP_005266078.1:p.Trp213del
XM_005266022.1:c.637_639del	XP_005266079.1:p.Trp213del
XM_005266023.1:c.637_639del	XP_005266080.1:p.Trp213del
XM_011534745.1:c.637_639del	XP_011533047.1:p.Trp213del
XM_011534746.1:c.637_639del	XP_011533048.1:p.Trp213del
XM_005266021.4:c.637_639del	XP_005266078.1:p.Trp213del
XM_011534746.2:c.637_639del	XP_011533048.1:p.Trp213del
NM_018941.4:c.637_639del MANE Select	NP_061764.2:p.Trp213del