Canonical Allele Identifier: CA2843211278

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208133dup , CM000677.2:g.68208133dup	GRCh38
NC_000015.9:g.68500471dup , CM000677.1:g.68500471dup	GRCh37
NC_000015.8:g.66287525dup	NCBI36
NG_008764.2:g.54080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*8dup MANE Select	ENSP00000249806.5:n.*8dup
ENST00000562767.2:c.84-10504dup	ENSP00000456336.1:n.84-10504dup
ENST00000565471.6:c.*8dup	ENSP00000457384.1:n.*8dup
ENST00000635747.1:c.*847dup	ENSP00000490627.1:n.*847dup
ENST00000636964.1:n.2472dup
ENST00000637054.1:c.198+10404dup	ENSP00000490807.1:n.198+10404dup
ENST00000637329.1:c.913dup
ENST00000637494.1:c.*8dup	ENSP00000490057.1:n.*8dup
ENST00000637888.1:c.198+10404dup	ENSP00000490546.1:n.198+10404dup
ENST00000638076.1:c.*547dup	ENSP00000490373.1:n.*547dup
ENST00000646164.1:c.39-8451dup
ENST00000249806.9:c.*8dup	ENSP00000249806.5:n.*8dup
ENST00000538696.5:c.*8dup	ENSP00000445770.1:n.*8dup
ENST00000562767.1:c.84-10504dup	ENSP00000456336.1:n.84-10504dup
ENST00000565471.5:c.*8dup	ENSP00000457384.1:n.*8dup
ENST00000566347.5:c.*8dup	ENSP00000457783.1:n.*8dup
ENST00000567060.5:c.*342dup	ENSP00000454818.1:n.*342dup
NM_017882.2:c.*8dup	NP_060352.1:n.*8dup
NM_017882.3:c.*8dup MANE Select	NP_060352.1:n.*8dup