Canonical Allele Identifier: CA1757673270

Gene: CLN8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780578_1780579delinsCG , CM000670.2:g.1780578_1780579delinsCG	GRCh38
NC_000008.10:g.1728744_1728745delinsCG , CM000670.1:g.1728744_1728745delinsCG	GRCh37
NC_000008.9:g.1716151_1716152delinsCG	NCBI36
NG_008656.2:g.29801_29802delinsCG , LRG_691:g.29801_29802delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.*11_*12delinsCG MANE Select	ENSP00000328182.4:n.*11_*12delinsCG
ENST00000519254.2:c.*11_*12delinsCG	ENSP00000490016.1:n.*11_*12delinsCG
ENST00000520991.3:c.*283_*284delinsCG	ENSP00000487905.2:n.*283_*284delinsCG
ENST00000635751.1:c.*11_*12delinsCG	ENSP00000489694.1:n.*11_*12delinsCG
ENST00000635773.1:c.496+8981_496+8982delinsCG
ENST00000635855.1:c.543+8981_543+8982delinsCG	ENSP00000489726.1:n.543+8981_543+8982delinsCG
ENST00000635970.1:c.*11_*12delinsCG	ENSP00000490439.1:n.*11_*12delinsCG
ENST00000636175.1:c.343+8981_343+8982delinsCG
ENST00000636934.1:c.543+8981_543+8982delinsCG	ENSP00000490218.1:n.543+8981_543+8982delinsCG
ENST00000637083.1:c.*11_*12delinsCG	ENSP00000490235.1:n.*11_*12delinsCG
ENST00000637156.1:c.*11_*12delinsCG	ENSP00000490458.1:n.*11_*12delinsCG
ENST00000331222.4:c.*11_*12delinsCG	ENSP00000328182.4:n.*11_*12delinsCG
ENST00000519254.1:n.391_392delinsCG
ENST00000523237.1:n.647_648delinsCG
NM_018941.3:c.*11_*12delinsCG , LRG_691t1:c.*11_*12delinsCG	NP_061764.2:n.*11_*12delinsCG
XM_005266021.3:c.*11_*12delinsCG	XP_005266078.1:n.*11_*12delinsCG
XM_005266022.1:c.*11_*12delinsCG	XP_005266079.1:n.*11_*12delinsCG
XM_005266023.1:c.*11_*12delinsCG	XP_005266080.1:n.*11_*12delinsCG
XM_011534745.1:c.*11_*12delinsCG	XP_011533047.1:n.*11_*12delinsCG
XM_011534746.1:c.*11_*12delinsCG	XP_011533048.1:n.*11_*12delinsCG
XM_005266021.4:c.*11_*12delinsCG	XP_005266078.1:n.*11_*12delinsCG
XM_011534746.2:c.*11_*12delinsCG	XP_011533048.1:n.*11_*12delinsCG
NM_018941.4:c.*11_*12delinsCG MANE Select	NP_061764.2:n.*11_*12delinsCG