Canonical Allele Identifier: CA2804591295

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211931_68211932insACTA , CM000677.2:g.68211931_68211932insACTA	GRCh38
NC_000015.9:g.68504269_68504270insACTA , CM000677.1:g.68504269_68504270insACTA	GRCh37
NC_000015.8:g.66291323_66291324insACTA	NCBI36
NG_008764.2:g.50280_50281insTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-69_298-68insTAGT MANE Select	ENSP00000249806.5:n.298-69_298-68insTAGT
ENST00000562767.2:c.84-14304_84-14303insTAGT	ENSP00000456336.1:n.84-14304_84-14303insTAGT
ENST00000563917.2:n.140-69_140-68insTAGT
ENST00000565471.6:c.84-2173_84-2172insTAGT	ENSP00000457384.1:n.84-2173_84-2172insTAGT
ENST00000635747.1:c.*201-69_*201-68insTAGT	ENSP00000490627.1:n.*201-69_*201-68insTAGT
ENST00000636212.1:c.298-191_298-190insTAGT	ENSP00000489851.1:n.298-191_298-190insTAGT
ENST00000636314.1:c.183-614_183-613insTAGT	ENSP00000490295.1:n.183-614_183-613insTAGT
ENST00000636674.1:n.1212_1213insTAGT
ENST00000636964.1:n.1401_1402insTAGT
ENST00000637054.1:c.198+6604_198+6605insTAGT	ENSP00000490807.1:n.198+6604_198+6605insTAGT
ENST00000637223.1:c.*201-614_*201-613insTAGT	ENSP00000490010.1:n.*201-614_*201-613insTAGT
ENST00000637329.1:c.209-11_209-10insTAGT
ENST00000637450.1:c.183-69_183-68insTAGT	ENSP00000490204.1:n.183-69_183-68insTAGT
ENST00000637494.1:c.199-614_199-613insTAGT	ENSP00000490057.1:n.199-614_199-613insTAGT
ENST00000637667.1:c.199-69_199-68insTAGT	ENSP00000489843.1:n.199-69_199-68insTAGT
ENST00000637823.1:c.224-289_224-288insTAGT
ENST00000637888.1:c.198+6604_198+6605insTAGT	ENSP00000490546.1:n.198+6604_198+6605insTAGT
ENST00000638076.1:c.298-69_298-68insTAGT	ENSP00000490373.1:n.298-69_298-68insTAGT
ENST00000638144.1:n.130-614_130-613insTAGT
ENST00000646164.1:c.38+6604_38+6605insTAGT
ENST00000249806.9:c.298-69_298-68insTAGT	ENSP00000249806.5:n.298-69_298-68insTAGT
ENST00000538696.5:c.394-69_394-68insTAGT	ENSP00000445770.1:n.394-69_394-68insTAGT
ENST00000562767.1:c.84-14304_84-14303insTAGT	ENSP00000456336.1:n.84-14304_84-14303insTAGT
ENST00000563917.1:n.79-69_79-68insTAGT
ENST00000564752.1:c.298-69_298-68insTAGT	ENSP00000457822.1:n.298-69_298-68insTAGT
ENST00000565471.5:c.84-2173_84-2172insTAGT	ENSP00000457384.1:n.84-2173_84-2172insTAGT
ENST00000566347.5:c.298-614_298-613insTAGT	ENSP00000457783.1:n.298-614_298-613insTAGT
ENST00000567060.5:c.298-2212_298-2211insTAGT	ENSP00000454818.1:n.298-2212_298-2211insTAGT
NM_017882.2:c.298-69_298-68insTAGT	NP_060352.1:n.298-69_298-68insTAGT
XR_931861.1:n.401-69_401-68insTAGT
NM_017882.3:c.298-69_298-68insTAGT MANE Select	NP_060352.1:n.298-69_298-68insTAGT