Canonical Allele Identifier: CA2629164949

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211619-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211619C>T , CM000677.2:g.68211619C>T	GRCh38
NC_000015.9:g.68503957C>T , CM000677.1:g.68503957C>T	GRCh37
NC_000015.8:g.66291011C>T	NCBI36
NG_008764.2:g.50593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+56G>A MANE Select	ENSP00000249806.5:n.486+56G>A
ENST00000562767.2:c.84-13991G>A	ENSP00000456336.1:n.84-13991G>A
ENST00000563917.2:n.328+56G>A
ENST00000565471.6:c.84-1860G>A	ENSP00000457384.1:n.84-1860G>A
ENST00000635747.1:c.*389+56G>A	ENSP00000490627.1:n.*389+56G>A
ENST00000636212.1:c.*93G>A	ENSP00000489851.1:n.*93G>A
ENST00000636314.1:c.183-301G>A	ENSP00000490295.1:n.183-301G>A
ENST00000636674.1:n.1525G>A
ENST00000636964.1:n.1714G>A
ENST00000637054.1:c.198+6917G>A	ENSP00000490807.1:n.198+6917G>A
ENST00000637223.1:c.*201-301G>A	ENSP00000490010.1:n.*201-301G>A
ENST00000637329.1:c.455+56G>A
ENST00000637450.1:c.*140+56G>A	ENSP00000490204.1:n.*140+56G>A
ENST00000637494.1:c.199-301G>A	ENSP00000490057.1:n.199-301G>A
ENST00000637667.1:c.387+56G>A	ENSP00000489843.1:n.387+56G>A
ENST00000637823.1:c.248G>A
ENST00000637888.1:c.198+6917G>A	ENSP00000490546.1:n.198+6917G>A
ENST00000638076.1:c.*26G>A	ENSP00000490373.1:n.*26G>A
ENST00000638144.1:n.130-301G>A
ENST00000646164.1:c.38+6917G>A
ENST00000249806.9:c.486+56G>A	ENSP00000249806.5:n.486+56G>A
ENST00000538696.5:c.582+56G>A	ENSP00000445770.1:n.582+56G>A
ENST00000562767.1:c.84-13991G>A	ENSP00000456336.1:n.84-13991G>A
ENST00000563917.1:n.323G>A
ENST00000564752.1:c.512+30G>A	ENSP00000457822.1:n.512+30G>A
ENST00000565471.5:c.84-1860G>A	ENSP00000457384.1:n.84-1860G>A
ENST00000566347.5:c.298-301G>A	ENSP00000457783.1:n.298-301G>A
ENST00000567060.5:c.298-1899G>A	ENSP00000454818.1:n.298-1899G>A
NM_017882.2:c.486+56G>A	NP_060352.1:n.486+56G>A
XR_931861.1:n.645G>A
NM_017882.3:c.486+56G>A MANE Select	NP_060352.1:n.486+56G>A