Canonical Allele Identifier: CA2184872956

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211923_68211924delinsTC , CM000677.2:g.68211923_68211924delinsTC	GRCh38
NC_000015.9:g.68504261_68504262delinsTC , CM000677.1:g.68504261_68504262delinsTC	GRCh37
NC_000015.8:g.66291315_66291316delinsTC	NCBI36
NG_008764.2:g.50288_50289delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-61_298-60delinsGA MANE Select	ENSP00000249806.5:n.298-61_298-60delinsGA
ENST00000562767.2:c.84-14296_84-14295delinsGA	ENSP00000456336.1:n.84-14296_84-14295delinsGA
ENST00000563917.2:n.140-61_140-60delinsGA
ENST00000565471.6:c.84-2165_84-2164delinsGA	ENSP00000457384.1:n.84-2165_84-2164delinsGA
ENST00000635747.1:c.*201-61_*201-60delinsGA	ENSP00000490627.1:n.*201-61_*201-60delinsGA
ENST00000636212.1:c.298-183_298-182delinsGA	ENSP00000489851.1:n.298-183_298-182delinsGA
ENST00000636314.1:c.183-606_183-605delinsGA	ENSP00000490295.1:n.183-606_183-605delinsGA
ENST00000636674.1:n.1220_1221delinsGA
ENST00000636964.1:n.1409_1410delinsGA
ENST00000637054.1:c.198+6612_198+6613delinsGA	ENSP00000490807.1:n.198+6612_198+6613delinsGA
ENST00000637223.1:c.*201-606_*201-605delinsGA	ENSP00000490010.1:n.*201-606_*201-605delinsGA
ENST00000637329.1:c.209-3_209-2delinsGA
ENST00000637450.1:c.183-61_183-60delinsGA	ENSP00000490204.1:n.183-61_183-60delinsGA
ENST00000637494.1:c.199-606_199-605delinsGA	ENSP00000490057.1:n.199-606_199-605delinsGA
ENST00000637667.1:c.199-61_199-60delinsGA	ENSP00000489843.1:n.199-61_199-60delinsGA
ENST00000637823.1:c.224-281_224-280delinsGA
ENST00000637888.1:c.198+6612_198+6613delinsGA	ENSP00000490546.1:n.198+6612_198+6613delinsGA
ENST00000638076.1:c.298-61_298-60delinsGA	ENSP00000490373.1:n.298-61_298-60delinsGA
ENST00000638144.1:n.130-606_130-605delinsGA
ENST00000646164.1:c.38+6612_38+6613delinsGA
ENST00000249806.9:c.298-61_298-60delinsGA	ENSP00000249806.5:n.298-61_298-60delinsGA
ENST00000538696.5:c.394-61_394-60delinsGA	ENSP00000445770.1:n.394-61_394-60delinsGA
ENST00000562767.1:c.84-14296_84-14295delinsGA	ENSP00000456336.1:n.84-14296_84-14295delinsGA
ENST00000563917.1:n.79-61_79-60delinsGA
ENST00000564752.1:c.298-61_298-60delinsGA	ENSP00000457822.1:n.298-61_298-60delinsGA
ENST00000565471.5:c.84-2165_84-2164delinsGA	ENSP00000457384.1:n.84-2165_84-2164delinsGA
ENST00000566347.5:c.298-606_298-605delinsGA	ENSP00000457783.1:n.298-606_298-605delinsGA
ENST00000567060.5:c.298-2204_298-2203delinsGA	ENSP00000454818.1:n.298-2204_298-2203delinsGA
NM_017882.2:c.298-61_298-60delinsGA	NP_060352.1:n.298-61_298-60delinsGA
XR_931861.1:n.401-61_401-60delinsGA
NM_017882.3:c.298-61_298-60delinsGA MANE Select	NP_060352.1:n.298-61_298-60delinsGA