Canonical Allele Identifier: CA2184879285

Gene: CLN6

Linked Data

• dbSNP Id: rs1595817056
• gnomAD v3: 15-68209478-G-C
• gnomAD v4: 15-68209478-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209478G>C , CM000677.2:g.68209478G>C	GRCh38
NC_000015.9:g.68501816G>C , CM000677.1:g.68501816G>C	GRCh37
NC_000015.8:g.66288870G>C	NCBI36
NG_008764.2:g.52734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+159C>G MANE Select	ENSP00000249806.5:n.665+159C>G
ENST00000562767.2:c.84-11850C>G	ENSP00000456336.1:n.84-11850C>G
ENST00000563917.2:n.507+159C>G
ENST00000565471.6:c.206+159C>G	ENSP00000457384.1:n.206+159C>G
ENST00000635747.1:c.*568+159C>G	ENSP00000490627.1:n.*568+159C>G
ENST00000636212.1:c.*335+159C>G	ENSP00000489851.1:n.*335+159C>G
ENST00000636674.1:n.1767+159C>G
ENST00000636964.1:n.2193+159C>G
ENST00000637054.1:c.198+9058C>G	ENSP00000490807.1:n.198+9058C>G
ENST00000637329.1:c.634+159C>G
ENST00000637450.1:c.*319+159C>G	ENSP00000490204.1:n.*319+159C>G
ENST00000637494.1:c.377+159C>G	ENSP00000490057.1:n.377+159C>G
ENST00000637667.1:c.566+159C>G	ENSP00000489843.1:n.566+159C>G
ENST00000637823.1:c.490+159C>G
ENST00000637888.1:c.198+9058C>G	ENSP00000490546.1:n.198+9058C>G
ENST00000638076.1:c.*268+159C>G	ENSP00000490373.1:n.*268+159C>G
ENST00000638144.1:n.308+159C>G
ENST00000646164.1:c.38+9058C>G
ENST00000249806.9:c.665+159C>G	ENSP00000249806.5:n.665+159C>G
ENST00000538696.5:c.761+159C>G	ENSP00000445770.1:n.761+159C>G
ENST00000562767.1:c.84-11850C>G	ENSP00000456336.1:n.84-11850C>G
ENST00000564752.1:c.*49+159C>G	ENSP00000457822.1:n.*49+159C>G
ENST00000565471.5:c.206+159C>G	ENSP00000457384.1:n.206+159C>G
ENST00000566347.5:c.476+159C>G	ENSP00000457783.1:n.476+159C>G
ENST00000567060.5:c.*63+159C>G	ENSP00000454818.1:n.*63+159C>G
NM_017882.2:c.665+159C>G	NP_060352.1:n.665+159C>G
XR_931861.1:n.887+159C>G
NM_017882.3:c.665+159C>G MANE Select	NP_060352.1:n.665+159C>G