Canonical Allele Identifier: CA2804591388

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212015_68212019del , CM000677.2:g.68212015_68212019del	GRCh38
NC_000015.9:g.68504353_68504357del , CM000677.1:g.68504353_68504357del	GRCh37
NC_000015.8:g.66291407_66291411del	NCBI36
NG_008764.2:g.50193_50197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-156_298-152del MANE Select	ENSP00000249806.5:n.298-156_298-152del
ENST00000562767.2:c.84-14391_84-14387del	ENSP00000456336.1:n.84-14391_84-14387del
ENST00000563917.2:n.140-156_140-152del
ENST00000565471.6:c.84-2260_84-2256del	ENSP00000457384.1:n.84-2260_84-2256del
ENST00000635747.1:c.*201-156_*201-152del	ENSP00000490627.1:n.*201-156_*201-152del
ENST00000636212.1:c.298-278_298-274del	ENSP00000489851.1:n.298-278_298-274del
ENST00000636314.1:c.183-701_183-697del	ENSP00000490295.1:n.183-701_183-697del
ENST00000636674.1:n.1125_1129del
ENST00000636964.1:n.1314_1318del
ENST00000637054.1:c.198+6517_198+6521del	ENSP00000490807.1:n.198+6517_198+6521del
ENST00000637223.1:c.*201-701_*201-697del	ENSP00000490010.1:n.*201-701_*201-697del
ENST00000637329.1:c.209-98_209-94del
ENST00000637450.1:c.183-156_183-152del	ENSP00000490204.1:n.183-156_183-152del
ENST00000637494.1:c.199-701_199-697del	ENSP00000490057.1:n.199-701_199-697del
ENST00000637667.1:c.199-156_199-152del	ENSP00000489843.1:n.199-156_199-152del
ENST00000637823.1:c.224-376_224-372del
ENST00000637888.1:c.198+6517_198+6521del	ENSP00000490546.1:n.198+6517_198+6521del
ENST00000638076.1:c.298-156_298-152del	ENSP00000490373.1:n.298-156_298-152del
ENST00000638144.1:n.130-701_130-697del
ENST00000646164.1:c.38+6517_38+6521del
ENST00000249806.9:c.298-156_298-152del	ENSP00000249806.5:n.298-156_298-152del
ENST00000538696.5:c.394-156_394-152del	ENSP00000445770.1:n.394-156_394-152del
ENST00000562767.1:c.84-14391_84-14387del	ENSP00000456336.1:n.84-14391_84-14387del
ENST00000563917.1:n.79-156_79-152del
ENST00000564752.1:c.298-156_298-152del	ENSP00000457822.1:n.298-156_298-152del
ENST00000565471.5:c.84-2260_84-2256del	ENSP00000457384.1:n.84-2260_84-2256del
ENST00000566347.5:c.298-701_298-697del	ENSP00000457783.1:n.298-701_298-697del
ENST00000567060.5:c.297+2271_297+2275del	ENSP00000454818.1:n.297+2271_297+2275del
NM_017882.2:c.298-156_298-152del	NP_060352.1:n.298-156_298-152del
XR_931861.1:n.401-156_401-152del
NM_017882.3:c.298-156_298-152del MANE Select	NP_060352.1:n.298-156_298-152del