Canonical Allele Identifier: CA2629165174

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211953-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211953T>G , CM000677.2:g.68211953T>G	GRCh38
NC_000015.9:g.68504291T>G , CM000677.1:g.68504291T>G	GRCh37
NC_000015.8:g.66291345T>G	NCBI36
NG_008764.2:g.50259A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-90A>C MANE Select	ENSP00000249806.5:n.298-90A>C
ENST00000562767.2:c.84-14325A>C	ENSP00000456336.1:n.84-14325A>C
ENST00000563917.2:n.140-90A>C
ENST00000565471.6:c.84-2194A>C	ENSP00000457384.1:n.84-2194A>C
ENST00000635747.1:c.*201-90A>C	ENSP00000490627.1:n.*201-90A>C
ENST00000636212.1:c.298-212A>C	ENSP00000489851.1:n.298-212A>C
ENST00000636314.1:c.183-635A>C	ENSP00000490295.1:n.183-635A>C
ENST00000636674.1:n.1191A>C
ENST00000636964.1:n.1380A>C
ENST00000637054.1:c.198+6583A>C	ENSP00000490807.1:n.198+6583A>C
ENST00000637223.1:c.*201-635A>C	ENSP00000490010.1:n.*201-635A>C
ENST00000637329.1:c.209-32A>C
ENST00000637450.1:c.183-90A>C	ENSP00000490204.1:n.183-90A>C
ENST00000637494.1:c.199-635A>C	ENSP00000490057.1:n.199-635A>C
ENST00000637667.1:c.199-90A>C	ENSP00000489843.1:n.199-90A>C
ENST00000637823.1:c.224-310A>C
ENST00000637888.1:c.198+6583A>C	ENSP00000490546.1:n.198+6583A>C
ENST00000638076.1:c.298-90A>C	ENSP00000490373.1:n.298-90A>C
ENST00000638144.1:n.130-635A>C
ENST00000646164.1:c.38+6583A>C
ENST00000249806.9:c.298-90A>C	ENSP00000249806.5:n.298-90A>C
ENST00000538696.5:c.394-90A>C	ENSP00000445770.1:n.394-90A>C
ENST00000562767.1:c.84-14325A>C	ENSP00000456336.1:n.84-14325A>C
ENST00000563917.1:n.79-90A>C
ENST00000564752.1:c.298-90A>C	ENSP00000457822.1:n.298-90A>C
ENST00000565471.5:c.84-2194A>C	ENSP00000457384.1:n.84-2194A>C
ENST00000566347.5:c.298-635A>C	ENSP00000457783.1:n.298-635A>C
ENST00000567060.5:c.298-2233A>C	ENSP00000454818.1:n.298-2233A>C
NM_017882.2:c.298-90A>C	NP_060352.1:n.298-90A>C
XR_931861.1:n.401-90A>C
NM_017882.3:c.298-90A>C MANE Select	NP_060352.1:n.298-90A>C