Canonical Allele Identifier: CA2575771364

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211929T>A , CM000677.2:g.68211929T>A	GRCh38
NC_000015.9:g.68504267T>A , CM000677.1:g.68504267T>A	GRCh37
NC_000015.8:g.66291321T>A	NCBI36
NG_008764.2:g.50283A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-66A>T MANE Select	ENSP00000249806.5:n.298-66A>T
ENST00000562767.2:c.84-14301A>T	ENSP00000456336.1:n.84-14301A>T
ENST00000563917.2:n.140-66A>T
ENST00000565471.6:c.84-2170A>T	ENSP00000457384.1:n.84-2170A>T
ENST00000635747.1:c.*201-66A>T	ENSP00000490627.1:n.*201-66A>T
ENST00000636212.1:c.298-188A>T	ENSP00000489851.1:n.298-188A>T
ENST00000636314.1:c.183-611A>T	ENSP00000490295.1:n.183-611A>T
ENST00000636674.1:n.1215A>T
ENST00000636964.1:n.1404A>T
ENST00000637054.1:c.198+6607A>T	ENSP00000490807.1:n.198+6607A>T
ENST00000637223.1:c.*201-611A>T	ENSP00000490010.1:n.*201-611A>T
ENST00000637329.1:c.209-8A>T
ENST00000637450.1:c.183-66A>T	ENSP00000490204.1:n.183-66A>T
ENST00000637494.1:c.199-611A>T	ENSP00000490057.1:n.199-611A>T
ENST00000637667.1:c.199-66A>T	ENSP00000489843.1:n.199-66A>T
ENST00000637823.1:c.224-286A>T
ENST00000637888.1:c.198+6607A>T	ENSP00000490546.1:n.198+6607A>T
ENST00000638076.1:c.298-66A>T	ENSP00000490373.1:n.298-66A>T
ENST00000638144.1:n.130-611A>T
ENST00000646164.1:c.38+6607A>T
ENST00000249806.9:c.298-66A>T	ENSP00000249806.5:n.298-66A>T
ENST00000538696.5:c.394-66A>T	ENSP00000445770.1:n.394-66A>T
ENST00000562767.1:c.84-14301A>T	ENSP00000456336.1:n.84-14301A>T
ENST00000563917.1:n.79-66A>T
ENST00000564752.1:c.298-66A>T	ENSP00000457822.1:n.298-66A>T
ENST00000565471.5:c.84-2170A>T	ENSP00000457384.1:n.84-2170A>T
ENST00000566347.5:c.298-611A>T	ENSP00000457783.1:n.298-611A>T
ENST00000567060.5:c.298-2209A>T	ENSP00000454818.1:n.298-2209A>T
NM_017882.2:c.298-66A>T	NP_060352.1:n.298-66A>T
XR_931861.1:n.401-66A>T
NM_017882.3:c.298-66A>T MANE Select	NP_060352.1:n.298-66A>T