Canonical Allele Identifier: CA2629164347

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2973296
• ClinVar RCV Id: RCV003830390
• gnomAD v4: 15-68209619-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209619A>G , CM000677.2:g.68209619A>G	GRCh38
NC_000015.9:g.68501957A>G , CM000677.1:g.68501957A>G	GRCh37
NC_000015.8:g.66289011A>G	NCBI36
NG_008764.2:g.52593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+18T>C MANE Select	ENSP00000249806.5:n.665+18T>C
ENST00000562767.2:c.84-11991T>C	ENSP00000456336.1:n.84-11991T>C
ENST00000563917.2:n.507+18T>C
ENST00000565471.6:c.206+18T>C	ENSP00000457384.1:n.206+18T>C
ENST00000635747.1:c.*568+18T>C	ENSP00000490627.1:n.*568+18T>C
ENST00000636212.1:c.*335+18T>C	ENSP00000489851.1:n.*335+18T>C
ENST00000636674.1:n.1767+18T>C
ENST00000636964.1:n.2193+18T>C
ENST00000637054.1:c.198+8917T>C	ENSP00000490807.1:n.198+8917T>C
ENST00000637329.1:c.634+18T>C
ENST00000637450.1:c.*319+18T>C	ENSP00000490204.1:n.*319+18T>C
ENST00000637494.1:c.377+18T>C	ENSP00000490057.1:n.377+18T>C
ENST00000637667.1:c.566+18T>C	ENSP00000489843.1:n.566+18T>C
ENST00000637823.1:c.490+18T>C
ENST00000637888.1:c.198+8917T>C	ENSP00000490546.1:n.198+8917T>C
ENST00000638076.1:c.*268+18T>C	ENSP00000490373.1:n.*268+18T>C
ENST00000638144.1:n.308+18T>C
ENST00000646164.1:c.38+8917T>C
ENST00000249806.9:c.665+18T>C	ENSP00000249806.5:n.665+18T>C
ENST00000538696.5:c.761+18T>C	ENSP00000445770.1:n.761+18T>C
ENST00000562767.1:c.84-11991T>C	ENSP00000456336.1:n.84-11991T>C
ENST00000564752.1:c.*49+18T>C	ENSP00000457822.1:n.*49+18T>C
ENST00000565471.5:c.206+18T>C	ENSP00000457384.1:n.206+18T>C
ENST00000566347.5:c.476+18T>C	ENSP00000457783.1:n.476+18T>C
ENST00000567060.5:c.*63+18T>C	ENSP00000454818.1:n.*63+18T>C
NM_017882.2:c.665+18T>C	NP_060352.1:n.665+18T>C
XR_931861.1:n.887+18T>C
NM_017882.3:c.665+18T>C MANE Select	NP_060352.1:n.665+18T>C