Canonical Allele Identifier: CA2731157824

Gene: CLN6

Linked Data

• dbSNP Id: rs2141139060

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211609del , CM000677.2:g.68211609del	GRCh38
NC_000015.9:g.68503947del , CM000677.1:g.68503947del	GRCh37
NC_000015.8:g.66291001del	NCBI36
NG_008764.2:g.50605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.486+68del MANE Select	ENSP00000249806.5:n.486+68del
ENST00000562767.2:c.84-13979del	ENSP00000456336.1:n.84-13979del
ENST00000563917.2:n.328+68del
ENST00000565471.6:c.84-1848del	ENSP00000457384.1:n.84-1848del
ENST00000635747.1:c.*389+68del	ENSP00000490627.1:n.*389+68del
ENST00000636212.1:c.*105del	ENSP00000489851.1:n.*105del
ENST00000636314.1:c.183-289del	ENSP00000490295.1:n.183-289del
ENST00000636674.1:n.1537del
ENST00000636964.1:n.1726del
ENST00000637054.1:c.198+6929del	ENSP00000490807.1:n.198+6929del
ENST00000637223.1:c.*201-289del	ENSP00000490010.1:n.*201-289del
ENST00000637329.1:c.455+68del
ENST00000637450.1:c.*140+68del	ENSP00000490204.1:n.*140+68del
ENST00000637494.1:c.199-289del	ENSP00000490057.1:n.199-289del
ENST00000637667.1:c.387+68del	ENSP00000489843.1:n.387+68del
ENST00000637823.1:c.260del
ENST00000637888.1:c.198+6929del	ENSP00000490546.1:n.198+6929del
ENST00000638076.1:c.*38del	ENSP00000490373.1:n.*38del
ENST00000638144.1:n.130-289del
ENST00000646164.1:c.38+6929del
ENST00000249806.9:c.486+68del	ENSP00000249806.5:n.486+68del
ENST00000538696.5:c.582+68del	ENSP00000445770.1:n.582+68del
ENST00000562767.1:c.84-13979del	ENSP00000456336.1:n.84-13979del
ENST00000563917.1:n.335del
ENST00000564752.1:c.512+42del	ENSP00000457822.1:n.512+42del
ENST00000565471.5:c.84-1848del	ENSP00000457384.1:n.84-1848del
ENST00000566347.5:c.298-289del	ENSP00000457783.1:n.298-289del
ENST00000567060.5:c.298-1887del	ENSP00000454818.1:n.298-1887del
NM_017882.2:c.486+68del	NP_060352.1:n.486+68del
XR_931861.1:n.657del
NM_017882.3:c.486+68del MANE Select	NP_060352.1:n.486+68del