Canonical Allele Identifier: CA2629165242

Gene: CLN6

Linked Data

• gnomAD v4: 15-68212003-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212003C>A , CM000677.2:g.68212003C>A	GRCh38
NC_000015.9:g.68504341C>A , CM000677.1:g.68504341C>A	GRCh37
NC_000015.8:g.66291395C>A	NCBI36
NG_008764.2:g.50209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-140G>T MANE Select	ENSP00000249806.5:n.298-140G>T
ENST00000562767.2:c.84-14375G>T	ENSP00000456336.1:n.84-14375G>T
ENST00000563917.2:n.140-140G>T
ENST00000565471.6:c.84-2244G>T	ENSP00000457384.1:n.84-2244G>T
ENST00000635747.1:c.*201-140G>T	ENSP00000490627.1:n.*201-140G>T
ENST00000636212.1:c.298-262G>T	ENSP00000489851.1:n.298-262G>T
ENST00000636314.1:c.183-685G>T	ENSP00000490295.1:n.183-685G>T
ENST00000636674.1:n.1141G>T
ENST00000636964.1:n.1330G>T
ENST00000637054.1:c.198+6533G>T	ENSP00000490807.1:n.198+6533G>T
ENST00000637223.1:c.*201-685G>T	ENSP00000490010.1:n.*201-685G>T
ENST00000637329.1:c.209-82G>T
ENST00000637450.1:c.183-140G>T	ENSP00000490204.1:n.183-140G>T
ENST00000637494.1:c.199-685G>T	ENSP00000490057.1:n.199-685G>T
ENST00000637667.1:c.199-140G>T	ENSP00000489843.1:n.199-140G>T
ENST00000637823.1:c.224-360G>T
ENST00000637888.1:c.198+6533G>T	ENSP00000490546.1:n.198+6533G>T
ENST00000638076.1:c.298-140G>T	ENSP00000490373.1:n.298-140G>T
ENST00000638144.1:n.130-685G>T
ENST00000646164.1:c.38+6533G>T
ENST00000249806.9:c.298-140G>T	ENSP00000249806.5:n.298-140G>T
ENST00000538696.5:c.394-140G>T	ENSP00000445770.1:n.394-140G>T
ENST00000562767.1:c.84-14375G>T	ENSP00000456336.1:n.84-14375G>T
ENST00000563917.1:n.79-140G>T
ENST00000564752.1:c.298-140G>T	ENSP00000457822.1:n.298-140G>T
ENST00000565471.5:c.84-2244G>T	ENSP00000457384.1:n.84-2244G>T
ENST00000566347.5:c.298-685G>T	ENSP00000457783.1:n.298-685G>T
ENST00000567060.5:c.298-2283G>T	ENSP00000454818.1:n.298-2283G>T
NM_017882.2:c.298-140G>T	NP_060352.1:n.298-140G>T
XR_931861.1:n.401-140G>T
NM_017882.3:c.298-140G>T MANE Select	NP_060352.1:n.298-140G>T