Canonical Allele Identifier: CA2839361859

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208188dup , CM000677.2:g.68208188dup	GRCh38
NC_000015.9:g.68500526dup , CM000677.1:g.68500526dup	GRCh37
NC_000015.8:g.66287580dup	NCBI36
NG_008764.2:g.54026dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.890dup MANE Select	ENSP00000249806.5:p.Glu298Ter
ENST00000562767.2:c.84-10558dup	ENSP00000456336.1:n.84-10558dup
ENST00000565471.6:c.431dup	ENSP00000457384.1:p.Glu145Ter
ENST00000635747.1:c.*793dup	ENSP00000490627.1:n.*793dup
ENST00000636212.1:c.*560dup	ENSP00000489851.1:n.*560dup
ENST00000636674.1:n.1992dup
ENST00000636964.1:n.2418dup
ENST00000637054.1:c.198+10350dup	ENSP00000490807.1:n.198+10350dup
ENST00000637329.1:c.859dup
ENST00000637494.1:c.602dup	ENSP00000490057.1:p.Glu202Ter
ENST00000637823.1:c.715dup
ENST00000637888.1:c.198+10350dup	ENSP00000490546.1:n.198+10350dup
ENST00000638076.1:c.*493dup	ENSP00000490373.1:n.*493dup
ENST00000638144.1:n.533dup
ENST00000646164.1:c.39-8505dup
ENST00000249806.9:c.890dup	ENSP00000249806.5:p.Glu298Ter
ENST00000538696.5:c.986dup	ENSP00000445770.1:p.Glu330Ter
ENST00000562767.1:c.84-10558dup	ENSP00000456336.1:n.84-10558dup
ENST00000565471.5:c.431dup	ENSP00000457384.1:p.Glu145Ter
ENST00000566347.5:c.701dup	ENSP00000457783.1:p.Glu235Ter
ENST00000567060.5:c.*288dup	ENSP00000454818.1:n.*288dup
NM_017882.2:c.890dup	NP_060352.1:p.Glu298Ter
NM_017882.3:c.890dup MANE Select	NP_060352.1:p.Glu298Ter