Canonical Allele Identifier: CA2629163827

Gene: CLN6

Linked Data

• gnomAD v4: 15-68218290-A-ACTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218291_68218293dup , CM000677.2:g.68218291_68218293dup	GRCh38
NC_000015.9:g.68510629_68510631dup , CM000677.1:g.68510629_68510631dup	GRCh37
NC_000015.8:g.66297683_66297685dup	NCBI36
NG_008764.2:g.43919_43921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+243_198+245dup MANE Select	ENSP00000249806.5:n.198+243_198+245dup
ENST00000562767.2:c.83+11209_83+11211dup	ENSP00000456336.1:n.83+11209_83+11211dup
ENST00000563917.2:n.41-3905_41-3903dup
ENST00000565471.6:c.84-8534_84-8532dup	ENSP00000457384.1:n.84-8534_84-8532dup
ENST00000569336.2:n.350_352dup
ENST00000635747.1:c.*101+243_*101+245dup	ENSP00000490627.1:n.*101+243_*101+245dup
ENST00000636020.1:n.330+243_330+245dup
ENST00000636212.1:c.198+243_198+245dup	ENSP00000489851.1:n.198+243_198+245dup
ENST00000636314.1:c.84-3905_84-3903dup	ENSP00000490295.1:n.84-3905_84-3903dup
ENST00000637054.1:c.198+243_198+245dup	ENSP00000490807.1:n.198+243_198+245dup
ENST00000637223.1:c.*101+243_*101+245dup	ENSP00000490010.1:n.*101+243_*101+245dup
ENST00000637329.1:c.109+243_109+245dup
ENST00000637450.1:c.84-3905_84-3903dup	ENSP00000490204.1:n.84-3905_84-3903dup
ENST00000637494.1:c.198+243_198+245dup	ENSP00000490057.1:n.198+243_198+245dup
ENST00000637667.1:c.198+243_198+245dup	ENSP00000489843.1:n.198+243_198+245dup
ENST00000637823.1:c.124+243_124+245dup
ENST00000637888.1:c.198+243_198+245dup	ENSP00000490546.1:n.198+243_198+245dup
ENST00000638076.1:c.198+243_198+245dup	ENSP00000490373.1:n.198+243_198+245dup
ENST00000638144.1:n.31-3905_31-3903dup
ENST00000646164.1:c.38+243_38+245dup
ENST00000249806.9:c.198+243_198+245dup	ENSP00000249806.5:n.198+243_198+245dup
ENST00000538696.5:c.294+243_294+245dup	ENSP00000445770.1:n.294+243_294+245dup
ENST00000562767.1:c.83+11209_83+11211dup	ENSP00000456336.1:n.83+11209_83+11211dup
ENST00000564752.1:c.198+243_198+245dup	ENSP00000457822.1:n.198+243_198+245dup
ENST00000564846.1:n.630+243_630+245dup
ENST00000565471.5:c.84-8534_84-8532dup	ENSP00000457384.1:n.84-8534_84-8532dup
ENST00000566347.5:c.198+243_198+245dup	ENSP00000457783.1:n.198+243_198+245dup
ENST00000567060.5:c.198+243_198+245dup	ENSP00000454818.1:n.198+243_198+245dup
ENST00000569336.1:n.353+174_353+176dup
NM_017882.2:c.198+243_198+245dup	NP_060352.1:n.198+243_198+245dup
XR_931861.1:n.301+243_301+245dup
NM_017882.3:c.198+243_198+245dup MANE Select	NP_060352.1:n.198+243_198+245dup