Canonical Allele Identifier: CA2804591364

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212002_68212003insA , CM000677.2:g.68212002_68212003insA	GRCh38
NC_000015.9:g.68504340_68504341insA , CM000677.1:g.68504340_68504341insA	GRCh37
NC_000015.8:g.66291394_66291395insA	NCBI36
NG_008764.2:g.50209_50210insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-140_298-139insT MANE Select	ENSP00000249806.5:n.298-140_298-139insT
ENST00000562767.2:c.84-14375_84-14374insT	ENSP00000456336.1:n.84-14375_84-14374insT
ENST00000563917.2:n.140-140_140-139insT
ENST00000565471.6:c.84-2244_84-2243insT	ENSP00000457384.1:n.84-2244_84-2243insT
ENST00000635747.1:c.*201-140_*201-139insT	ENSP00000490627.1:n.*201-140_*201-139insT
ENST00000636212.1:c.298-262_298-261insT	ENSP00000489851.1:n.298-262_298-261insT
ENST00000636314.1:c.183-685_183-684insT	ENSP00000490295.1:n.183-685_183-684insT
ENST00000636674.1:n.1141_1142insT
ENST00000636964.1:n.1330_1331insT
ENST00000637054.1:c.198+6533_198+6534insT	ENSP00000490807.1:n.198+6533_198+6534insT
ENST00000637223.1:c.*201-685_*201-684insT	ENSP00000490010.1:n.*201-685_*201-684insT
ENST00000637329.1:c.209-82_209-81insT
ENST00000637450.1:c.183-140_183-139insT	ENSP00000490204.1:n.183-140_183-139insT
ENST00000637494.1:c.199-685_199-684insT	ENSP00000490057.1:n.199-685_199-684insT
ENST00000637667.1:c.199-140_199-139insT	ENSP00000489843.1:n.199-140_199-139insT
ENST00000637823.1:c.224-360_224-359insT
ENST00000637888.1:c.198+6533_198+6534insT	ENSP00000490546.1:n.198+6533_198+6534insT
ENST00000638076.1:c.298-140_298-139insT	ENSP00000490373.1:n.298-140_298-139insT
ENST00000638144.1:n.130-685_130-684insT
ENST00000646164.1:c.38+6533_38+6534insT
ENST00000249806.9:c.298-140_298-139insT	ENSP00000249806.5:n.298-140_298-139insT
ENST00000538696.5:c.394-140_394-139insT	ENSP00000445770.1:n.394-140_394-139insT
ENST00000562767.1:c.84-14375_84-14374insT	ENSP00000456336.1:n.84-14375_84-14374insT
ENST00000563917.1:n.79-140_79-139insT
ENST00000564752.1:c.298-140_298-139insT	ENSP00000457822.1:n.298-140_298-139insT
ENST00000565471.5:c.84-2244_84-2243insT	ENSP00000457384.1:n.84-2244_84-2243insT
ENST00000566347.5:c.298-685_298-684insT	ENSP00000457783.1:n.298-685_298-684insT
ENST00000567060.5:c.298-2283_298-2282insT	ENSP00000454818.1:n.298-2283_298-2282insT
NM_017882.2:c.298-140_298-139insT	NP_060352.1:n.298-140_298-139insT
XR_931861.1:n.401-140_401-139insT
NM_017882.3:c.298-140_298-139insT MANE Select	NP_060352.1:n.298-140_298-139insT