Canonical Allele Identifier: CA2804591385

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212012_68212013insA , CM000677.2:g.68212012_68212013insA	GRCh38
NC_000015.9:g.68504350_68504351insA , CM000677.1:g.68504350_68504351insA	GRCh37
NC_000015.8:g.66291404_66291405insA	NCBI36
NG_008764.2:g.50199_50200insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-150_298-149insT MANE Select	ENSP00000249806.5:n.298-150_298-149insT
ENST00000562767.2:c.84-14385_84-14384insT	ENSP00000456336.1:n.84-14385_84-14384insT
ENST00000563917.2:n.140-150_140-149insT
ENST00000565471.6:c.84-2254_84-2253insT	ENSP00000457384.1:n.84-2254_84-2253insT
ENST00000635747.1:c.*201-150_*201-149insT	ENSP00000490627.1:n.*201-150_*201-149insT
ENST00000636212.1:c.298-272_298-271insT	ENSP00000489851.1:n.298-272_298-271insT
ENST00000636314.1:c.183-695_183-694insT	ENSP00000490295.1:n.183-695_183-694insT
ENST00000636674.1:n.1131_1132insT
ENST00000636964.1:n.1320_1321insT
ENST00000637054.1:c.198+6523_198+6524insT	ENSP00000490807.1:n.198+6523_198+6524insT
ENST00000637223.1:c.*201-695_*201-694insT	ENSP00000490010.1:n.*201-695_*201-694insT
ENST00000637329.1:c.209-92_209-91insT
ENST00000637450.1:c.183-150_183-149insT	ENSP00000490204.1:n.183-150_183-149insT
ENST00000637494.1:c.199-695_199-694insT	ENSP00000490057.1:n.199-695_199-694insT
ENST00000637667.1:c.199-150_199-149insT	ENSP00000489843.1:n.199-150_199-149insT
ENST00000637823.1:c.224-370_224-369insT
ENST00000637888.1:c.198+6523_198+6524insT	ENSP00000490546.1:n.198+6523_198+6524insT
ENST00000638076.1:c.298-150_298-149insT	ENSP00000490373.1:n.298-150_298-149insT
ENST00000638144.1:n.130-695_130-694insT
ENST00000646164.1:c.38+6523_38+6524insT
ENST00000249806.9:c.298-150_298-149insT	ENSP00000249806.5:n.298-150_298-149insT
ENST00000538696.5:c.394-150_394-149insT	ENSP00000445770.1:n.394-150_394-149insT
ENST00000562767.1:c.84-14385_84-14384insT	ENSP00000456336.1:n.84-14385_84-14384insT
ENST00000563917.1:n.79-150_79-149insT
ENST00000564752.1:c.298-150_298-149insT	ENSP00000457822.1:n.298-150_298-149insT
ENST00000565471.5:c.84-2254_84-2253insT	ENSP00000457384.1:n.84-2254_84-2253insT
ENST00000566347.5:c.298-695_298-694insT	ENSP00000457783.1:n.298-695_298-694insT
ENST00000567060.5:c.297+2277_297+2278insT	ENSP00000454818.1:n.297+2277_297+2278insT
NM_017882.2:c.298-150_298-149insT	NP_060352.1:n.298-150_298-149insT
XR_931861.1:n.401-150_401-149insT
NM_017882.3:c.298-150_298-149insT MANE Select	NP_060352.1:n.298-150_298-149insT