Canonical Allele Identifier: CA2184878313

Gene: CLN6

Linked Data

• dbSNP Id: rs2093226536
• gnomAD v3: 15-68218455-G-C
• gnomAD v4: 15-68218455-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218455G>C , CM000677.2:g.68218455G>C	GRCh38
NC_000015.9:g.68510793G>C , CM000677.1:g.68510793G>C	GRCh37
NC_000015.8:g.66297847G>C	NCBI36
NG_008764.2:g.43757C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.198+81C>G MANE Select	ENSP00000249806.5:n.198+81C>G
ENST00000562767.2:c.83+11047C>G	ENSP00000456336.1:n.83+11047C>G
ENST00000563917.2:n.41-4067C>G
ENST00000565471.6:c.84-8696C>G	ENSP00000457384.1:n.84-8696C>G
ENST00000569336.2:n.188C>G
ENST00000635747.1:c.*101+81C>G	ENSP00000490627.1:n.*101+81C>G
ENST00000636020.1:n.330+81C>G
ENST00000636212.1:c.198+81C>G	ENSP00000489851.1:n.198+81C>G
ENST00000636314.1:c.84-4067C>G	ENSP00000490295.1:n.84-4067C>G
ENST00000637054.1:c.198+81C>G	ENSP00000490807.1:n.198+81C>G
ENST00000637223.1:c.*101+81C>G	ENSP00000490010.1:n.*101+81C>G
ENST00000637329.1:c.109+81C>G
ENST00000637450.1:c.84-4067C>G	ENSP00000490204.1:n.84-4067C>G
ENST00000637494.1:c.198+81C>G	ENSP00000490057.1:n.198+81C>G
ENST00000637667.1:c.198+81C>G	ENSP00000489843.1:n.198+81C>G
ENST00000637823.1:c.124+81C>G
ENST00000637888.1:c.198+81C>G	ENSP00000490546.1:n.198+81C>G
ENST00000638076.1:c.198+81C>G	ENSP00000490373.1:n.198+81C>G
ENST00000638144.1:n.31-4067C>G
ENST00000646164.1:c.38+81C>G
ENST00000249806.9:c.198+81C>G	ENSP00000249806.5:n.198+81C>G
ENST00000538696.5:c.294+81C>G	ENSP00000445770.1:n.294+81C>G
ENST00000562767.1:c.83+11047C>G	ENSP00000456336.1:n.83+11047C>G
ENST00000564752.1:c.198+81C>G	ENSP00000457822.1:n.198+81C>G
ENST00000564846.1:n.630+81C>G
ENST00000565471.5:c.84-8696C>G	ENSP00000457384.1:n.84-8696C>G
ENST00000566347.5:c.198+81C>G	ENSP00000457783.1:n.198+81C>G
ENST00000567060.5:c.198+81C>G	ENSP00000454818.1:n.198+81C>G
ENST00000569336.1:n.353+12C>G
NM_017882.2:c.198+81C>G	NP_060352.1:n.198+81C>G
XR_931861.1:n.301+81C>G
NM_017882.3:c.198+81C>G MANE Select	NP_060352.1:n.198+81C>G