Canonical Allele Identifier: CA919581633

Gene: CLN6

Linked Data

• dbSNP Id: rs1567095111

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209713dup , CM000677.2:g.68209713dup	GRCh38
NC_000015.9:g.68502051dup , CM000677.1:g.68502051dup	GRCh37
NC_000015.8:g.66289105dup	NCBI36
NG_008764.2:g.52501dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.591dup MANE Select	ENSP00000249806.5:p.Thr198TyrfsTer4
ENST00000562767.2:c.84-12083dup	ENSP00000456336.1:n.84-12083dup
ENST00000563917.2:n.433dup
ENST00000565471.6:c.132dup	ENSP00000457384.1:p.Thr45TyrfsTer4
ENST00000635747.1:c.*494dup	ENSP00000490627.1:n.*494dup
ENST00000636212.1:c.*261dup	ENSP00000489851.1:n.*261dup
ENST00000636314.1:c.287dup	ENSP00000490295.1:p.Leu96PhefsTer?
ENST00000636674.1:n.1693dup
ENST00000636964.1:n.2119dup
ENST00000637054.1:c.198+8825dup	ENSP00000490807.1:n.198+8825dup
ENST00000637223.1:c.*305dup	ENSP00000490010.1:n.*305dup
ENST00000637329.1:c.560dup
ENST00000637450.1:c.*245dup	ENSP00000490204.1:n.*245dup
ENST00000637494.1:c.303dup	ENSP00000490057.1:p.Thr102TyrfsTer4
ENST00000637667.1:c.492dup	ENSP00000489843.1:p.Thr165TyrfsTer4
ENST00000637823.1:c.416dup
ENST00000637888.1:c.198+8825dup	ENSP00000490546.1:n.198+8825dup
ENST00000638076.1:c.*194dup	ENSP00000490373.1:n.*194dup
ENST00000638144.1:n.234dup
ENST00000646164.1:c.38+8825dup
ENST00000249806.9:c.591dup	ENSP00000249806.5:p.Thr198TyrfsTer4
ENST00000538696.5:c.687dup	ENSP00000445770.1:p.Thr230TyrfsTer4
ENST00000562767.1:c.84-12083dup	ENSP00000456336.1:n.84-12083dup
ENST00000563917.1:n.491dup
ENST00000564752.1:c.617dup	ENSP00000457822.1:p.Leu206PhefsTer?
ENST00000565471.5:c.132dup	ENSP00000457384.1:p.Thr45TyrfsTer4
ENST00000566347.5:c.402dup	ENSP00000457783.1:p.Thr135TyrfsTer4
ENST00000567060.5:c.307dup	ENSP00000454818.1:p.Tyr103LeufsTer9
NM_017882.2:c.591dup	NP_060352.1:p.Thr198TyrfsTer4
XR_931861.1:n.813dup
NM_017882.3:c.591dup MANE Select	NP_060352.1:p.Thr198TyrfsTer4