Canonical Allele Identifier: CA2778737129

Gene: CLN8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1780690_1780691insGAT , CM000670.2:g.1780690_1780691insGAT	GRCh38
NC_000008.10:g.1728856_1728857insGAT , CM000670.1:g.1728856_1728857insGAT	GRCh37
NC_000008.9:g.1716263_1716264insGAT	NCBI36
NG_008656.2:g.29913_29914insGAT , LRG_691:g.29913_29914insGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331222.6:c.*123_*124insGAT MANE Select	ENSP00000328182.4:n.*123_*124insGAT
ENST00000519254.2:c.*123_*124insGAT	ENSP00000490016.1:n.*123_*124insGAT
ENST00000520991.3:c.*395_*396insGAT	ENSP00000487905.2:n.*395_*396insGAT
ENST00000635751.1:c.*123_*124insGAT	ENSP00000489694.1:n.*123_*124insGAT
ENST00000635773.1:c.496+9093_496+9094insGAT
ENST00000635855.1:c.543+9093_543+9094insGAT	ENSP00000489726.1:n.543+9093_543+9094insGAT
ENST00000635970.1:c.*123_*124insGAT	ENSP00000490439.1:n.*123_*124insGAT
ENST00000636175.1:c.343+9093_343+9094insGAT
ENST00000636934.1:c.543+9093_543+9094insGAT	ENSP00000490218.1:n.543+9093_543+9094insGAT
ENST00000637083.1:c.*123_*124insGAT	ENSP00000490235.1:n.*123_*124insGAT
ENST00000637156.1:c.*123_*124insGAT	ENSP00000490458.1:n.*123_*124insGAT
ENST00000331222.4:c.*123_*124insGAT	ENSP00000328182.4:n.*123_*124insGAT
ENST00000519254.1:n.503_504insGAT
ENST00000523237.1:n.759_760insGAT
NM_018941.3:c.*123_*124insGAT , LRG_691t1:c.*123_*124insGAT	NP_061764.2:n.*123_*124insGAT
XM_005266021.3:c.*123_*124insGAT	XP_005266078.1:n.*123_*124insGAT
XM_005266022.1:c.*123_*124insGAT	XP_005266079.1:n.*123_*124insGAT
XM_005266023.1:c.*123_*124insGAT	XP_005266080.1:n.*123_*124insGAT
XM_011534745.1:c.*123_*124insGAT	XP_011533047.1:n.*123_*124insGAT
XM_011534746.1:c.*123_*124insGAT	XP_011533048.1:n.*123_*124insGAT
XM_005266021.4:c.*123_*124insGAT	XP_005266078.1:n.*123_*124insGAT
XM_011534746.2:c.*123_*124insGAT	XP_011533048.1:n.*123_*124insGAT
NM_018941.4:c.*123_*124insGAT MANE Select	NP_061764.2:n.*123_*124insGAT