Canonical Allele Identifier: CA2804591328

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211976_68211977insGAT , CM000677.2:g.68211976_68211977insGAT	GRCh38
NC_000015.9:g.68504314_68504315insGAT , CM000677.1:g.68504314_68504315insGAT	GRCh37
NC_000015.8:g.66291368_66291369insGAT	NCBI36
NG_008764.2:g.50235_50236insATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-114_298-113insATC MANE Select	ENSP00000249806.5:n.298-114_298-113insATC
ENST00000562767.2:c.84-14349_84-14348insATC	ENSP00000456336.1:n.84-14349_84-14348insATC
ENST00000563917.2:n.140-114_140-113insATC
ENST00000565471.6:c.84-2218_84-2217insATC	ENSP00000457384.1:n.84-2218_84-2217insATC
ENST00000635747.1:c.*201-114_*201-113insATC	ENSP00000490627.1:n.*201-114_*201-113insATC
ENST00000636212.1:c.298-236_298-235insATC	ENSP00000489851.1:n.298-236_298-235insATC
ENST00000636314.1:c.183-659_183-658insATC	ENSP00000490295.1:n.183-659_183-658insATC
ENST00000636674.1:n.1167_1168insATC
ENST00000636964.1:n.1356_1357insATC
ENST00000637054.1:c.198+6559_198+6560insATC	ENSP00000490807.1:n.198+6559_198+6560insATC
ENST00000637223.1:c.*201-659_*201-658insATC	ENSP00000490010.1:n.*201-659_*201-658insATC
ENST00000637329.1:c.209-56_209-55insATC
ENST00000637450.1:c.183-114_183-113insATC	ENSP00000490204.1:n.183-114_183-113insATC
ENST00000637494.1:c.199-659_199-658insATC	ENSP00000490057.1:n.199-659_199-658insATC
ENST00000637667.1:c.199-114_199-113insATC	ENSP00000489843.1:n.199-114_199-113insATC
ENST00000637823.1:c.224-334_224-333insATC
ENST00000637888.1:c.198+6559_198+6560insATC	ENSP00000490546.1:n.198+6559_198+6560insATC
ENST00000638076.1:c.298-114_298-113insATC	ENSP00000490373.1:n.298-114_298-113insATC
ENST00000638144.1:n.130-659_130-658insATC
ENST00000646164.1:c.38+6559_38+6560insATC
ENST00000249806.9:c.298-114_298-113insATC	ENSP00000249806.5:n.298-114_298-113insATC
ENST00000538696.5:c.394-114_394-113insATC	ENSP00000445770.1:n.394-114_394-113insATC
ENST00000562767.1:c.84-14349_84-14348insATC	ENSP00000456336.1:n.84-14349_84-14348insATC
ENST00000563917.1:n.79-114_79-113insATC
ENST00000564752.1:c.298-114_298-113insATC	ENSP00000457822.1:n.298-114_298-113insATC
ENST00000565471.5:c.84-2218_84-2217insATC	ENSP00000457384.1:n.84-2218_84-2217insATC
ENST00000566347.5:c.298-659_298-658insATC	ENSP00000457783.1:n.298-659_298-658insATC
ENST00000567060.5:c.298-2257_298-2256insATC	ENSP00000454818.1:n.298-2257_298-2256insATC
NM_017882.2:c.298-114_298-113insATC	NP_060352.1:n.298-114_298-113insATC
XR_931861.1:n.401-114_401-113insATC
NM_017882.3:c.298-114_298-113insATC MANE Select	NP_060352.1:n.298-114_298-113insATC