Canonical Allele Identifier: CA2804591341

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211986_68211987insAC , CM000677.2:g.68211986_68211987insAC	GRCh38
NC_000015.9:g.68504324_68504325insAC , CM000677.1:g.68504324_68504325insAC	GRCh37
NC_000015.8:g.66291378_66291379insAC	NCBI36
NG_008764.2:g.50225_50226insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-124_298-123insGT MANE Select	ENSP00000249806.5:n.298-124_298-123insGT
ENST00000562767.2:c.84-14359_84-14358insGT	ENSP00000456336.1:n.84-14359_84-14358insGT
ENST00000563917.2:n.140-124_140-123insGT
ENST00000565471.6:c.84-2228_84-2227insGT	ENSP00000457384.1:n.84-2228_84-2227insGT
ENST00000635747.1:c.*201-124_*201-123insGT	ENSP00000490627.1:n.*201-124_*201-123insGT
ENST00000636212.1:c.298-246_298-245insGT	ENSP00000489851.1:n.298-246_298-245insGT
ENST00000636314.1:c.183-669_183-668insGT	ENSP00000490295.1:n.183-669_183-668insGT
ENST00000636674.1:n.1157_1158insGT
ENST00000636964.1:n.1346_1347insGT
ENST00000637054.1:c.198+6549_198+6550insGT	ENSP00000490807.1:n.198+6549_198+6550insGT
ENST00000637223.1:c.*201-669_*201-668insGT	ENSP00000490010.1:n.*201-669_*201-668insGT
ENST00000637329.1:c.209-66_209-65insGT
ENST00000637450.1:c.183-124_183-123insGT	ENSP00000490204.1:n.183-124_183-123insGT
ENST00000637494.1:c.199-669_199-668insGT	ENSP00000490057.1:n.199-669_199-668insGT
ENST00000637667.1:c.199-124_199-123insGT	ENSP00000489843.1:n.199-124_199-123insGT
ENST00000637823.1:c.224-344_224-343insGT
ENST00000637888.1:c.198+6549_198+6550insGT	ENSP00000490546.1:n.198+6549_198+6550insGT
ENST00000638076.1:c.298-124_298-123insGT	ENSP00000490373.1:n.298-124_298-123insGT
ENST00000638144.1:n.130-669_130-668insGT
ENST00000646164.1:c.38+6549_38+6550insGT
ENST00000249806.9:c.298-124_298-123insGT	ENSP00000249806.5:n.298-124_298-123insGT
ENST00000538696.5:c.394-124_394-123insGT	ENSP00000445770.1:n.394-124_394-123insGT
ENST00000562767.1:c.84-14359_84-14358insGT	ENSP00000456336.1:n.84-14359_84-14358insGT
ENST00000563917.1:n.79-124_79-123insGT
ENST00000564752.1:c.298-124_298-123insGT	ENSP00000457822.1:n.298-124_298-123insGT
ENST00000565471.5:c.84-2228_84-2227insGT	ENSP00000457384.1:n.84-2228_84-2227insGT
ENST00000566347.5:c.298-669_298-668insGT	ENSP00000457783.1:n.298-669_298-668insGT
ENST00000567060.5:c.298-2267_298-2266insGT	ENSP00000454818.1:n.298-2267_298-2266insGT
NM_017882.2:c.298-124_298-123insGT	NP_060352.1:n.298-124_298-123insGT
XR_931861.1:n.401-124_401-123insGT
NM_017882.3:c.298-124_298-123insGT MANE Select	NP_060352.1:n.298-124_298-123insGT