Canonical Allele Identifier: CA2575771347

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211572G>A , CM000677.2:g.68211572G>A	GRCh38
NC_000015.9:g.68503910G>A , CM000677.1:g.68503910G>A	GRCh37
NC_000015.8:g.66290964G>A	NCBI36
NG_008764.2:g.50640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+103C>T MANE Select	ENSP00000249806.5:n.486+103C>T
ENST00000562767.2:c.84-13944C>T	ENSP00000456336.1:n.84-13944C>T
ENST00000563917.2:n.328+103C>T
ENST00000565471.6:c.84-1813C>T	ENSP00000457384.1:n.84-1813C>T
ENST00000635747.1:c.*389+103C>T	ENSP00000490627.1:n.*389+103C>T
ENST00000636212.1:c.*140C>T	ENSP00000489851.1:n.*140C>T
ENST00000636314.1:c.183-254C>T	ENSP00000490295.1:n.183-254C>T
ENST00000636674.1:n.1572C>T
ENST00000636964.1:n.1761C>T
ENST00000637054.1:c.198+6964C>T	ENSP00000490807.1:n.198+6964C>T
ENST00000637223.1:c.*201-254C>T	ENSP00000490010.1:n.*201-254C>T
ENST00000637329.1:c.455+103C>T
ENST00000637450.1:c.*140+103C>T	ENSP00000490204.1:n.*140+103C>T
ENST00000637494.1:c.199-254C>T	ENSP00000490057.1:n.199-254C>T
ENST00000637667.1:c.387+103C>T	ENSP00000489843.1:n.387+103C>T
ENST00000637823.1:c.295C>T
ENST00000637888.1:c.198+6964C>T	ENSP00000490546.1:n.198+6964C>T
ENST00000638076.1:c.*73C>T	ENSP00000490373.1:n.*73C>T
ENST00000638144.1:n.130-254C>T
ENST00000646164.1:c.38+6964C>T
ENST00000249806.9:c.486+103C>T	ENSP00000249806.5:n.486+103C>T
ENST00000538696.5:c.582+103C>T	ENSP00000445770.1:n.582+103C>T
ENST00000562767.1:c.84-13944C>T	ENSP00000456336.1:n.84-13944C>T
ENST00000563917.1:n.370C>T
ENST00000564752.1:c.512+77C>T	ENSP00000457822.1:n.512+77C>T
ENST00000565471.5:c.84-1813C>T	ENSP00000457384.1:n.84-1813C>T
ENST00000566347.5:c.298-254C>T	ENSP00000457783.1:n.298-254C>T
ENST00000567060.5:c.298-1852C>T	ENSP00000454818.1:n.298-1852C>T
NM_017882.2:c.486+103C>T	NP_060352.1:n.486+103C>T
XR_931861.1:n.692C>T
NM_017882.3:c.486+103C>T MANE Select	NP_060352.1:n.486+103C>T