Canonical Allele Identifier: CA2629164955

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211631-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211631T>C , CM000677.2:g.68211631T>C	GRCh38
NC_000015.9:g.68503969T>C , CM000677.1:g.68503969T>C	GRCh37
NC_000015.8:g.66291023T>C	NCBI36
NG_008764.2:g.50581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+44A>G MANE Select	ENSP00000249806.5:n.486+44A>G
ENST00000562767.2:c.84-14003A>G	ENSP00000456336.1:n.84-14003A>G
ENST00000563917.2:n.328+44A>G
ENST00000565471.6:c.84-1872A>G	ENSP00000457384.1:n.84-1872A>G
ENST00000635747.1:c.*389+44A>G	ENSP00000490627.1:n.*389+44A>G
ENST00000636212.1:c.*81A>G	ENSP00000489851.1:n.*81A>G
ENST00000636314.1:c.183-313A>G	ENSP00000490295.1:n.183-313A>G
ENST00000636674.1:n.1513A>G
ENST00000636964.1:n.1702A>G
ENST00000637054.1:c.198+6905A>G	ENSP00000490807.1:n.198+6905A>G
ENST00000637223.1:c.*201-313A>G	ENSP00000490010.1:n.*201-313A>G
ENST00000637329.1:c.455+44A>G
ENST00000637450.1:c.*140+44A>G	ENSP00000490204.1:n.*140+44A>G
ENST00000637494.1:c.199-313A>G	ENSP00000490057.1:n.199-313A>G
ENST00000637667.1:c.387+44A>G	ENSP00000489843.1:n.387+44A>G
ENST00000637823.1:c.236A>G
ENST00000637888.1:c.198+6905A>G	ENSP00000490546.1:n.198+6905A>G
ENST00000638076.1:c.*14A>G	ENSP00000490373.1:n.*14A>G
ENST00000638144.1:n.130-313A>G
ENST00000646164.1:c.38+6905A>G
ENST00000249806.9:c.486+44A>G	ENSP00000249806.5:n.486+44A>G
ENST00000538696.5:c.582+44A>G	ENSP00000445770.1:n.582+44A>G
ENST00000562767.1:c.84-14003A>G	ENSP00000456336.1:n.84-14003A>G
ENST00000563917.1:n.311A>G
ENST00000564752.1:c.512+18A>G	ENSP00000457822.1:n.512+18A>G
ENST00000565471.5:c.84-1872A>G	ENSP00000457384.1:n.84-1872A>G
ENST00000566347.5:c.298-313A>G	ENSP00000457783.1:n.298-313A>G
ENST00000567060.5:c.298-1911A>G	ENSP00000454818.1:n.298-1911A>G
NM_017882.2:c.486+44A>G	NP_060352.1:n.486+44A>G
XR_931861.1:n.633A>G
NM_017882.3:c.486+44A>G MANE Select	NP_060352.1:n.486+44A>G