Canonical Allele Identifier: CA2804591318

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211968_68211969insAGT , CM000677.2:g.68211968_68211969insAGT	GRCh38
NC_000015.9:g.68504306_68504307insAGT , CM000677.1:g.68504306_68504307insAGT	GRCh37
NC_000015.8:g.66291360_66291361insAGT	NCBI36
NG_008764.2:g.50243_50244insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-106_298-105insACT MANE Select	ENSP00000249806.5:n.298-106_298-105insACT
ENST00000562767.2:c.84-14341_84-14340insACT	ENSP00000456336.1:n.84-14341_84-14340insACT
ENST00000563917.2:n.140-106_140-105insACT
ENST00000565471.6:c.84-2210_84-2209insACT	ENSP00000457384.1:n.84-2210_84-2209insACT
ENST00000635747.1:c.*201-106_*201-105insACT	ENSP00000490627.1:n.*201-106_*201-105insACT
ENST00000636212.1:c.298-228_298-227insACT	ENSP00000489851.1:n.298-228_298-227insACT
ENST00000636314.1:c.183-651_183-650insACT	ENSP00000490295.1:n.183-651_183-650insACT
ENST00000636674.1:n.1175_1176insACT
ENST00000636964.1:n.1364_1365insACT
ENST00000637054.1:c.198+6567_198+6568insACT	ENSP00000490807.1:n.198+6567_198+6568insACT
ENST00000637223.1:c.*201-651_*201-650insACT	ENSP00000490010.1:n.*201-651_*201-650insACT
ENST00000637329.1:c.209-48_209-47insACT
ENST00000637450.1:c.183-106_183-105insACT	ENSP00000490204.1:n.183-106_183-105insACT
ENST00000637494.1:c.199-651_199-650insACT	ENSP00000490057.1:n.199-651_199-650insACT
ENST00000637667.1:c.199-106_199-105insACT	ENSP00000489843.1:n.199-106_199-105insACT
ENST00000637823.1:c.224-326_224-325insACT
ENST00000637888.1:c.198+6567_198+6568insACT	ENSP00000490546.1:n.198+6567_198+6568insACT
ENST00000638076.1:c.298-106_298-105insACT	ENSP00000490373.1:n.298-106_298-105insACT
ENST00000638144.1:n.130-651_130-650insACT
ENST00000646164.1:c.38+6567_38+6568insACT
ENST00000249806.9:c.298-106_298-105insACT	ENSP00000249806.5:n.298-106_298-105insACT
ENST00000538696.5:c.394-106_394-105insACT	ENSP00000445770.1:n.394-106_394-105insACT
ENST00000562767.1:c.84-14341_84-14340insACT	ENSP00000456336.1:n.84-14341_84-14340insACT
ENST00000563917.1:n.79-106_79-105insACT
ENST00000564752.1:c.298-106_298-105insACT	ENSP00000457822.1:n.298-106_298-105insACT
ENST00000565471.5:c.84-2210_84-2209insACT	ENSP00000457384.1:n.84-2210_84-2209insACT
ENST00000566347.5:c.298-651_298-650insACT	ENSP00000457783.1:n.298-651_298-650insACT
ENST00000567060.5:c.298-2249_298-2248insACT	ENSP00000454818.1:n.298-2249_298-2248insACT
NM_017882.2:c.298-106_298-105insACT	NP_060352.1:n.298-106_298-105insACT
XR_931861.1:n.401-106_401-105insACT
NM_017882.3:c.298-106_298-105insACT MANE Select	NP_060352.1:n.298-106_298-105insACT