Canonical Allele Identifier: CA2778737124

Gene: CLN8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780671_1780693del , CM000670.2:g.1780671_1780693del	GRCh38
NC_000008.10:g.1728837_1728859del , CM000670.1:g.1728837_1728859del	GRCh37
NC_000008.9:g.1716244_1716266del	NCBI36
NG_008656.2:g.29894_29916del , LRG_691:g.29894_29916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.*104_*126del MANE Select	ENSP00000328182.4:n.*104_*126del
ENST00000519254.2:c.*104_*126del	ENSP00000490016.1:n.*104_*126del
ENST00000520991.3:c.*376_*398del	ENSP00000487905.2:n.*376_*398del
ENST00000635751.1:c.*104_*126del	ENSP00000489694.1:n.*104_*126del
ENST00000635773.1:c.496+9074_496+9096del
ENST00000635855.1:c.543+9074_543+9096del	ENSP00000489726.1:n.543+9074_543+9096del
ENST00000635970.1:c.*104_*126del	ENSP00000490439.1:n.*104_*126del
ENST00000636175.1:c.343+9074_343+9096del
ENST00000636934.1:c.543+9074_543+9096del	ENSP00000490218.1:n.543+9074_543+9096del
ENST00000637083.1:c.*104_*126del	ENSP00000490235.1:n.*104_*126del
ENST00000637156.1:c.*104_*126del	ENSP00000490458.1:n.*104_*126del
ENST00000331222.4:c.*104_*126del	ENSP00000328182.4:n.*104_*126del
ENST00000519254.1:n.484_506del
ENST00000523237.1:n.740_762del
NM_018941.3:c.*104_*126del , LRG_691t1:c.*104_*126del	NP_061764.2:n.*104_*126del
XM_005266021.3:c.*104_*126del	XP_005266078.1:n.*104_*126del
XM_005266022.1:c.*104_*126del	XP_005266079.1:n.*104_*126del
XM_005266023.1:c.*104_*126del	XP_005266080.1:n.*104_*126del
XM_011534745.1:c.*104_*126del	XP_011533047.1:n.*104_*126del
XM_011534746.1:c.*104_*126del	XP_011533048.1:n.*104_*126del
XM_005266021.4:c.*104_*126del	XP_005266078.1:n.*104_*126del
XM_011534746.2:c.*104_*126del	XP_011533048.1:n.*104_*126del
NM_018941.4:c.*104_*126del MANE Select	NP_061764.2:n.*104_*126del