Canonical Allele Identifier: CA2184873001

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211961_68211962delinsTC , CM000677.2:g.68211961_68211962delinsTC	GRCh38
NC_000015.9:g.68504299_68504300delinsTC , CM000677.1:g.68504299_68504300delinsTC	GRCh37
NC_000015.8:g.66291353_66291354delinsTC	NCBI36
NG_008764.2:g.50250_50251delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-99_298-98delinsGA MANE Select	ENSP00000249806.5:n.298-99_298-98delinsGA
ENST00000562767.2:c.84-14334_84-14333delinsGA	ENSP00000456336.1:n.84-14334_84-14333delinsGA
ENST00000563917.2:n.140-99_140-98delinsGA
ENST00000565471.6:c.84-2203_84-2202delinsGA	ENSP00000457384.1:n.84-2203_84-2202delinsGA
ENST00000635747.1:c.*201-99_*201-98delinsGA	ENSP00000490627.1:n.*201-99_*201-98delinsGA
ENST00000636212.1:c.298-221_298-220delinsGA	ENSP00000489851.1:n.298-221_298-220delinsGA
ENST00000636314.1:c.183-644_183-643delinsGA	ENSP00000490295.1:n.183-644_183-643delinsGA
ENST00000636674.1:n.1182_1183delinsGA
ENST00000636964.1:n.1371_1372delinsGA
ENST00000637054.1:c.198+6574_198+6575delinsGA	ENSP00000490807.1:n.198+6574_198+6575delinsGA
ENST00000637223.1:c.*201-644_*201-643delinsGA	ENSP00000490010.1:n.*201-644_*201-643delinsGA
ENST00000637329.1:c.209-41_209-40delinsGA
ENST00000637450.1:c.183-99_183-98delinsGA	ENSP00000490204.1:n.183-99_183-98delinsGA
ENST00000637494.1:c.199-644_199-643delinsGA	ENSP00000490057.1:n.199-644_199-643delinsGA
ENST00000637667.1:c.199-99_199-98delinsGA	ENSP00000489843.1:n.199-99_199-98delinsGA
ENST00000637823.1:c.224-319_224-318delinsGA
ENST00000637888.1:c.198+6574_198+6575delinsGA	ENSP00000490546.1:n.198+6574_198+6575delinsGA
ENST00000638076.1:c.298-99_298-98delinsGA	ENSP00000490373.1:n.298-99_298-98delinsGA
ENST00000638144.1:n.130-644_130-643delinsGA
ENST00000646164.1:c.38+6574_38+6575delinsGA
ENST00000249806.9:c.298-99_298-98delinsGA	ENSP00000249806.5:n.298-99_298-98delinsGA
ENST00000538696.5:c.394-99_394-98delinsGA	ENSP00000445770.1:n.394-99_394-98delinsGA
ENST00000562767.1:c.84-14334_84-14333delinsGA	ENSP00000456336.1:n.84-14334_84-14333delinsGA
ENST00000563917.1:n.79-99_79-98delinsGA
ENST00000564752.1:c.298-99_298-98delinsGA	ENSP00000457822.1:n.298-99_298-98delinsGA
ENST00000565471.5:c.84-2203_84-2202delinsGA	ENSP00000457384.1:n.84-2203_84-2202delinsGA
ENST00000566347.5:c.298-644_298-643delinsGA	ENSP00000457783.1:n.298-644_298-643delinsGA
ENST00000567060.5:c.298-2242_298-2241delinsGA	ENSP00000454818.1:n.298-2242_298-2241delinsGA
NM_017882.2:c.298-99_298-98delinsGA	NP_060352.1:n.298-99_298-98delinsGA
XR_931861.1:n.401-99_401-98delinsGA
NM_017882.3:c.298-99_298-98delinsGA MANE Select	NP_060352.1:n.298-99_298-98delinsGA