Canonical Allele Identifier: CA2804591332

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211978_68211979insACG , CM000677.2:g.68211978_68211979insACG	GRCh38
NC_000015.9:g.68504316_68504317insACG , CM000677.1:g.68504316_68504317insACG	GRCh37
NC_000015.8:g.66291370_66291371insACG	NCBI36
NG_008764.2:g.50233_50234insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-116_298-115insCGT MANE Select	ENSP00000249806.5:n.298-116_298-115insCGT
ENST00000562767.2:c.84-14351_84-14350insCGT	ENSP00000456336.1:n.84-14351_84-14350insCGT
ENST00000563917.2:n.140-116_140-115insCGT
ENST00000565471.6:c.84-2220_84-2219insCGT	ENSP00000457384.1:n.84-2220_84-2219insCGT
ENST00000635747.1:c.*201-116_*201-115insCGT	ENSP00000490627.1:n.*201-116_*201-115insCGT
ENST00000636212.1:c.298-238_298-237insCGT	ENSP00000489851.1:n.298-238_298-237insCGT
ENST00000636314.1:c.183-661_183-660insCGT	ENSP00000490295.1:n.183-661_183-660insCGT
ENST00000636674.1:n.1165_1166insCGT
ENST00000636964.1:n.1354_1355insCGT
ENST00000637054.1:c.198+6557_198+6558insCGT	ENSP00000490807.1:n.198+6557_198+6558insCGT
ENST00000637223.1:c.*201-661_*201-660insCGT	ENSP00000490010.1:n.*201-661_*201-660insCGT
ENST00000637329.1:c.209-58_209-57insCGT
ENST00000637450.1:c.183-116_183-115insCGT	ENSP00000490204.1:n.183-116_183-115insCGT
ENST00000637494.1:c.199-661_199-660insCGT	ENSP00000490057.1:n.199-661_199-660insCGT
ENST00000637667.1:c.199-116_199-115insCGT	ENSP00000489843.1:n.199-116_199-115insCGT
ENST00000637823.1:c.224-336_224-335insCGT
ENST00000637888.1:c.198+6557_198+6558insCGT	ENSP00000490546.1:n.198+6557_198+6558insCGT
ENST00000638076.1:c.298-116_298-115insCGT	ENSP00000490373.1:n.298-116_298-115insCGT
ENST00000638144.1:n.130-661_130-660insCGT
ENST00000646164.1:c.38+6557_38+6558insCGT
ENST00000249806.9:c.298-116_298-115insCGT	ENSP00000249806.5:n.298-116_298-115insCGT
ENST00000538696.5:c.394-116_394-115insCGT	ENSP00000445770.1:n.394-116_394-115insCGT
ENST00000562767.1:c.84-14351_84-14350insCGT	ENSP00000456336.1:n.84-14351_84-14350insCGT
ENST00000563917.1:n.79-116_79-115insCGT
ENST00000564752.1:c.298-116_298-115insCGT	ENSP00000457822.1:n.298-116_298-115insCGT
ENST00000565471.5:c.84-2220_84-2219insCGT	ENSP00000457384.1:n.84-2220_84-2219insCGT
ENST00000566347.5:c.298-661_298-660insCGT	ENSP00000457783.1:n.298-661_298-660insCGT
ENST00000567060.5:c.298-2259_298-2258insCGT	ENSP00000454818.1:n.298-2259_298-2258insCGT
NM_017882.2:c.298-116_298-115insCGT	NP_060352.1:n.298-116_298-115insCGT
XR_931861.1:n.401-116_401-115insCGT
NM_017882.3:c.298-116_298-115insCGT MANE Select	NP_060352.1:n.298-116_298-115insCGT