Canonical Allele Identifier: CA2629164936

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211587-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211587G>A , CM000677.2:g.68211587G>A	GRCh38
NC_000015.9:g.68503925G>A , CM000677.1:g.68503925G>A	GRCh37
NC_000015.8:g.66290979G>A	NCBI36
NG_008764.2:g.50625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+88C>T MANE Select	ENSP00000249806.5:n.486+88C>T
ENST00000562767.2:c.84-13959C>T	ENSP00000456336.1:n.84-13959C>T
ENST00000563917.2:n.328+88C>T
ENST00000565471.6:c.84-1828C>T	ENSP00000457384.1:n.84-1828C>T
ENST00000635747.1:c.*389+88C>T	ENSP00000490627.1:n.*389+88C>T
ENST00000636212.1:c.*125C>T	ENSP00000489851.1:n.*125C>T
ENST00000636314.1:c.183-269C>T	ENSP00000490295.1:n.183-269C>T
ENST00000636674.1:n.1557C>T
ENST00000636964.1:n.1746C>T
ENST00000637054.1:c.198+6949C>T	ENSP00000490807.1:n.198+6949C>T
ENST00000637223.1:c.*201-269C>T	ENSP00000490010.1:n.*201-269C>T
ENST00000637329.1:c.455+88C>T
ENST00000637450.1:c.*140+88C>T	ENSP00000490204.1:n.*140+88C>T
ENST00000637494.1:c.199-269C>T	ENSP00000490057.1:n.199-269C>T
ENST00000637667.1:c.387+88C>T	ENSP00000489843.1:n.387+88C>T
ENST00000637823.1:c.280C>T
ENST00000637888.1:c.198+6949C>T	ENSP00000490546.1:n.198+6949C>T
ENST00000638076.1:c.*58C>T	ENSP00000490373.1:n.*58C>T
ENST00000638144.1:n.130-269C>T
ENST00000646164.1:c.38+6949C>T
ENST00000249806.9:c.486+88C>T	ENSP00000249806.5:n.486+88C>T
ENST00000538696.5:c.582+88C>T	ENSP00000445770.1:n.582+88C>T
ENST00000562767.1:c.84-13959C>T	ENSP00000456336.1:n.84-13959C>T
ENST00000563917.1:n.355C>T
ENST00000564752.1:c.512+62C>T	ENSP00000457822.1:n.512+62C>T
ENST00000565471.5:c.84-1828C>T	ENSP00000457384.1:n.84-1828C>T
ENST00000566347.5:c.298-269C>T	ENSP00000457783.1:n.298-269C>T
ENST00000567060.5:c.298-1867C>T	ENSP00000454818.1:n.298-1867C>T
NM_017882.2:c.486+88C>T	NP_060352.1:n.486+88C>T
XR_931861.1:n.677C>T
NM_017882.3:c.486+88C>T MANE Select	NP_060352.1:n.486+88C>T