Canonical Allele Identifier: CA2629164959

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211642-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211642G>A , CM000677.2:g.68211642G>A	GRCh38
NC_000015.9:g.68503980G>A , CM000677.1:g.68503980G>A	GRCh37
NC_000015.8:g.66291034G>A	NCBI36
NG_008764.2:g.50570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+33C>T MANE Select	ENSP00000249806.5:n.486+33C>T
ENST00000562767.2:c.84-14014C>T	ENSP00000456336.1:n.84-14014C>T
ENST00000563917.2:n.328+33C>T
ENST00000565471.6:c.84-1883C>T	ENSP00000457384.1:n.84-1883C>T
ENST00000635747.1:c.*389+33C>T	ENSP00000490627.1:n.*389+33C>T
ENST00000636212.1:c.*70C>T	ENSP00000489851.1:n.*70C>T
ENST00000636314.1:c.183-324C>T	ENSP00000490295.1:n.183-324C>T
ENST00000636674.1:n.1502C>T
ENST00000636964.1:n.1691C>T
ENST00000637054.1:c.198+6894C>T	ENSP00000490807.1:n.198+6894C>T
ENST00000637223.1:c.*201-324C>T	ENSP00000490010.1:n.*201-324C>T
ENST00000637329.1:c.455+33C>T
ENST00000637450.1:c.*140+33C>T	ENSP00000490204.1:n.*140+33C>T
ENST00000637494.1:c.199-324C>T	ENSP00000490057.1:n.199-324C>T
ENST00000637667.1:c.387+33C>T	ENSP00000489843.1:n.387+33C>T
ENST00000637823.1:c.225C>T
ENST00000637888.1:c.198+6894C>T	ENSP00000490546.1:n.198+6894C>T
ENST00000638076.1:c.*3C>T	ENSP00000490373.1:n.*3C>T
ENST00000638144.1:n.130-324C>T
ENST00000646164.1:c.38+6894C>T
ENST00000249806.9:c.486+33C>T	ENSP00000249806.5:n.486+33C>T
ENST00000538696.5:c.582+33C>T	ENSP00000445770.1:n.582+33C>T
ENST00000562767.1:c.84-14014C>T	ENSP00000456336.1:n.84-14014C>T
ENST00000563917.1:n.300C>T
ENST00000564752.1:c.512+7C>T	ENSP00000457822.1:n.512+7C>T
ENST00000565471.5:c.84-1883C>T	ENSP00000457384.1:n.84-1883C>T
ENST00000566347.5:c.298-324C>T	ENSP00000457783.1:n.298-324C>T
ENST00000567060.5:c.298-1922C>T	ENSP00000454818.1:n.298-1922C>T
NM_017882.2:c.486+33C>T	NP_060352.1:n.486+33C>T
XR_931861.1:n.622C>T
NM_017882.3:c.486+33C>T MANE Select	NP_060352.1:n.486+33C>T