Canonical Allele Identifier: CA2685939638

Gene: CLN8

Linked Data

• gnomAD v4: 8-1780303-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780304_1780305del , CM000670.2:g.1780304_1780305del	GRCh38
NC_000008.10:g.1728470_1728471del , CM000670.1:g.1728470_1728471del	GRCh37
NC_000008.9:g.1715877_1715878del	NCBI36
NG_008656.2:g.29527_29528del , LRG_691:g.29527_29528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.598_599del MANE Select	ENSP00000328182.4:p.Met200ValfsTer?
ENST00000519254.2:c.598_599del	ENSP00000490016.1:p.Met200ValfsTer?
ENST00000520991.3:c.*9_*10del	ENSP00000487905.2:n.*9_*10del
ENST00000635751.1:c.598_599del	ENSP00000489694.1:p.Met200ValfsTer?
ENST00000635773.1:c.496+8707_496+8708del
ENST00000635855.1:c.543+8707_543+8708del	ENSP00000489726.1:n.543+8707_543+8708del
ENST00000635970.1:c.598_599del	ENSP00000490439.1:p.Met200ValfsTer?
ENST00000636175.1:c.343+8707_343+8708del
ENST00000636934.1:c.543+8707_543+8708del	ENSP00000490218.1:n.543+8707_543+8708del
ENST00000637083.1:c.598_599del	ENSP00000490235.1:p.Met200ValfsTer?
ENST00000637156.1:c.598_599del	ENSP00000490458.1:p.Met200ValfsTer?
ENST00000331222.4:c.598_599del	ENSP00000328182.4:p.Met200ValfsTer?
ENST00000519254.1:n.117_118del
ENST00000523237.1:n.373_374del
NM_018941.3:c.598_599del , LRG_691t1:c.598_599del	NP_061764.2:p.Met200ValfsTer?
XM_005266021.3:c.598_599del	XP_005266078.1:p.Met200ValfsTer?
XM_005266022.1:c.598_599del	XP_005266079.1:p.Met200ValfsTer?
XM_005266023.1:c.598_599del	XP_005266080.1:p.Met200ValfsTer?
XM_011534745.1:c.598_599del	XP_011533047.1:p.Met200ValfsTer?
XM_011534746.1:c.598_599del	XP_011533048.1:p.Met200ValfsTer?
XM_005266021.4:c.598_599del	XP_005266078.1:p.Met200ValfsTer?
XM_011534746.2:c.598_599del	XP_011533048.1:p.Met200ValfsTer?
NM_018941.4:c.598_599del MANE Select	NP_061764.2:p.Met200ValfsTer?