Canonical Allele Identifier: CA2804591326

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211978_68211980del , CM000677.2:g.68211978_68211980del	GRCh38
NC_000015.9:g.68504316_68504318del , CM000677.1:g.68504316_68504318del	GRCh37
NC_000015.8:g.66291370_66291372del	NCBI36
NG_008764.2:g.50233_50235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-116_298-114del MANE Select	ENSP00000249806.5:n.298-116_298-114del
ENST00000562767.2:c.84-14351_84-14349del	ENSP00000456336.1:n.84-14351_84-14349del
ENST00000563917.2:n.140-116_140-114del
ENST00000565471.6:c.84-2220_84-2218del	ENSP00000457384.1:n.84-2220_84-2218del
ENST00000635747.1:c.*201-116_*201-114del	ENSP00000490627.1:n.*201-116_*201-114del
ENST00000636212.1:c.298-238_298-236del	ENSP00000489851.1:n.298-238_298-236del
ENST00000636314.1:c.183-661_183-659del	ENSP00000490295.1:n.183-661_183-659del
ENST00000636674.1:n.1165_1167del
ENST00000636964.1:n.1354_1356del
ENST00000637054.1:c.198+6557_198+6559del	ENSP00000490807.1:n.198+6557_198+6559del
ENST00000637223.1:c.*201-661_*201-659del	ENSP00000490010.1:n.*201-661_*201-659del
ENST00000637329.1:c.209-58_209-56del
ENST00000637450.1:c.183-116_183-114del	ENSP00000490204.1:n.183-116_183-114del
ENST00000637494.1:c.199-661_199-659del	ENSP00000490057.1:n.199-661_199-659del
ENST00000637667.1:c.199-116_199-114del	ENSP00000489843.1:n.199-116_199-114del
ENST00000637823.1:c.224-336_224-334del
ENST00000637888.1:c.198+6557_198+6559del	ENSP00000490546.1:n.198+6557_198+6559del
ENST00000638076.1:c.298-116_298-114del	ENSP00000490373.1:n.298-116_298-114del
ENST00000638144.1:n.130-661_130-659del
ENST00000646164.1:c.38+6557_38+6559del
ENST00000249806.9:c.298-116_298-114del	ENSP00000249806.5:n.298-116_298-114del
ENST00000538696.5:c.394-116_394-114del	ENSP00000445770.1:n.394-116_394-114del
ENST00000562767.1:c.84-14351_84-14349del	ENSP00000456336.1:n.84-14351_84-14349del
ENST00000563917.1:n.79-116_79-114del
ENST00000564752.1:c.298-116_298-114del	ENSP00000457822.1:n.298-116_298-114del
ENST00000565471.5:c.84-2220_84-2218del	ENSP00000457384.1:n.84-2220_84-2218del
ENST00000566347.5:c.298-661_298-659del	ENSP00000457783.1:n.298-661_298-659del
ENST00000567060.5:c.298-2259_298-2257del	ENSP00000454818.1:n.298-2259_298-2257del
NM_017882.2:c.298-116_298-114del	NP_060352.1:n.298-116_298-114del
XR_931861.1:n.401-116_401-114del
NM_017882.3:c.298-116_298-114del MANE Select	NP_060352.1:n.298-116_298-114del