Canonical Allele Identifier: CA2184878174

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218206_68218216delinsCCTTTGTCTGT , CM000677.2:g.68218206_68218216delinsCCTTTGTCTGT	GRCh38
NC_000015.9:g.68510544_68510554delinsCCTTTGTCTGT , CM000677.1:g.68510544_68510554delinsCCTTTGTCTGT	GRCh37
NC_000015.8:g.66297598_66297608delinsCCTTTGTCTGT	NCBI36
NG_008764.2:g.43996_44006delinsACAGACAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+320_198+330delinsACAGACAAAGG MANE Select	ENSP00000249806.5:n.198+320_198+330delinsACAGACAAAGG
ENST00000562767.2:c.83+11286_83+11296delinsACAGACAAAGG	ENSP00000456336.1:n.83+11286_83+11296delinsACAGACAAAGG
ENST00000563917.2:n.41-3828_41-3818delinsACAGACAAAGG
ENST00000565471.6:c.84-8457_84-8447delinsACAGACAAAGG	ENSP00000457384.1:n.84-8457_84-8447delinsACAGACAAAGG
ENST00000569336.2:n.427_437delinsACAGACAAAGG
ENST00000635747.1:c.*101+320_*101+330delinsACAGACAAAGG	ENSP00000490627.1:n.*101+320_*101+330delinsACAGACAAAGG
ENST00000636020.1:n.330+320_330+330delinsACAGACAAAGG
ENST00000636212.1:c.198+320_198+330delinsACAGACAAAGG	ENSP00000489851.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000636314.1:c.84-3828_84-3818delinsACAGACAAAGG	ENSP00000490295.1:n.84-3828_84-3818delinsACAGACAAAGG
ENST00000637054.1:c.198+320_198+330delinsACAGACAAAGG	ENSP00000490807.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000637223.1:c.*101+320_*101+330delinsACAGACAAAGG	ENSP00000490010.1:n.*101+320_*101+330delinsACAGACAAAGG
ENST00000637329.1:c.109+320_109+330delinsACAGACAAAGG
ENST00000637450.1:c.84-3828_84-3818delinsACAGACAAAGG	ENSP00000490204.1:n.84-3828_84-3818delinsACAGACAAAGG
ENST00000637494.1:c.198+320_198+330delinsACAGACAAAGG	ENSP00000490057.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000637667.1:c.198+320_198+330delinsACAGACAAAGG	ENSP00000489843.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000637823.1:c.124+320_124+330delinsACAGACAAAGG
ENST00000637888.1:c.198+320_198+330delinsACAGACAAAGG	ENSP00000490546.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000638076.1:c.198+320_198+330delinsACAGACAAAGG	ENSP00000490373.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000638144.1:n.31-3828_31-3818delinsACAGACAAAGG
ENST00000646164.1:c.38+320_38+330delinsACAGACAAAGG
ENST00000249806.9:c.198+320_198+330delinsACAGACAAAGG	ENSP00000249806.5:n.198+320_198+330delinsACAGACAAAGG
ENST00000538696.5:c.294+320_294+330delinsACAGACAAAGG	ENSP00000445770.1:n.294+320_294+330delinsACAGACAAAGG
ENST00000562767.1:c.83+11286_83+11296delinsACAGACAAAGG	ENSP00000456336.1:n.83+11286_83+11296delinsACAGACAAAGG
ENST00000564752.1:c.198+320_198+330delinsACAGACAAAGG	ENSP00000457822.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000564846.1:n.630+320_630+330delinsACAGACAAAGG
ENST00000565471.5:c.84-8457_84-8447delinsACAGACAAAGG	ENSP00000457384.1:n.84-8457_84-8447delinsACAGACAAAGG
ENST00000566347.5:c.198+320_198+330delinsACAGACAAAGG	ENSP00000457783.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000567060.5:c.198+320_198+330delinsACAGACAAAGG	ENSP00000454818.1:n.198+320_198+330delinsACAGACAAAGG
ENST00000569336.1:n.353+251_353+261delinsACAGACAAAGG
NM_017882.2:c.198+320_198+330delinsACAGACAAAGG	NP_060352.1:n.198+320_198+330delinsACAGACAAAGG
XR_931861.1:n.301+320_301+330delinsACAGACAAAGG
NM_017882.3:c.198+320_198+330delinsACAGACAAAGG MANE Select	NP_060352.1:n.198+320_198+330delinsACAGACAAAGG