Canonical Allele Identifier: CA2804591335

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211979_68211980insA , CM000677.2:g.68211979_68211980insA	GRCh38
NC_000015.9:g.68504317_68504318insA , CM000677.1:g.68504317_68504318insA	GRCh37
NC_000015.8:g.66291371_66291372insA	NCBI36
NG_008764.2:g.50232_50233insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-117_298-116insT MANE Select	ENSP00000249806.5:n.298-117_298-116insT
ENST00000562767.2:c.84-14352_84-14351insT	ENSP00000456336.1:n.84-14352_84-14351insT
ENST00000563917.2:n.140-117_140-116insT
ENST00000565471.6:c.84-2221_84-2220insT	ENSP00000457384.1:n.84-2221_84-2220insT
ENST00000635747.1:c.*201-117_*201-116insT	ENSP00000490627.1:n.*201-117_*201-116insT
ENST00000636212.1:c.298-239_298-238insT	ENSP00000489851.1:n.298-239_298-238insT
ENST00000636314.1:c.183-662_183-661insT	ENSP00000490295.1:n.183-662_183-661insT
ENST00000636674.1:n.1164_1165insT
ENST00000636964.1:n.1353_1354insT
ENST00000637054.1:c.198+6556_198+6557insT	ENSP00000490807.1:n.198+6556_198+6557insT
ENST00000637223.1:c.*201-662_*201-661insT	ENSP00000490010.1:n.*201-662_*201-661insT
ENST00000637329.1:c.209-59_209-58insT
ENST00000637450.1:c.183-117_183-116insT	ENSP00000490204.1:n.183-117_183-116insT
ENST00000637494.1:c.199-662_199-661insT	ENSP00000490057.1:n.199-662_199-661insT
ENST00000637667.1:c.199-117_199-116insT	ENSP00000489843.1:n.199-117_199-116insT
ENST00000637823.1:c.224-337_224-336insT
ENST00000637888.1:c.198+6556_198+6557insT	ENSP00000490546.1:n.198+6556_198+6557insT
ENST00000638076.1:c.298-117_298-116insT	ENSP00000490373.1:n.298-117_298-116insT
ENST00000638144.1:n.130-662_130-661insT
ENST00000646164.1:c.38+6556_38+6557insT
ENST00000249806.9:c.298-117_298-116insT	ENSP00000249806.5:n.298-117_298-116insT
ENST00000538696.5:c.394-117_394-116insT	ENSP00000445770.1:n.394-117_394-116insT
ENST00000562767.1:c.84-14352_84-14351insT	ENSP00000456336.1:n.84-14352_84-14351insT
ENST00000563917.1:n.79-117_79-116insT
ENST00000564752.1:c.298-117_298-116insT	ENSP00000457822.1:n.298-117_298-116insT
ENST00000565471.5:c.84-2221_84-2220insT	ENSP00000457384.1:n.84-2221_84-2220insT
ENST00000566347.5:c.298-662_298-661insT	ENSP00000457783.1:n.298-662_298-661insT
ENST00000567060.5:c.298-2260_298-2259insT	ENSP00000454818.1:n.298-2260_298-2259insT
NM_017882.2:c.298-117_298-116insT	NP_060352.1:n.298-117_298-116insT
XR_931861.1:n.401-117_401-116insT
NM_017882.3:c.298-117_298-116insT MANE Select	NP_060352.1:n.298-117_298-116insT