Canonical Allele Identifier: CA2629163795

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208124-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208124G>T , CM000677.2:g.68208124G>T	GRCh38
NC_000015.9:g.68500462G>T , CM000677.1:g.68500462G>T	GRCh37
NC_000015.8:g.66287516G>T	NCBI36
NG_008764.2:g.54088C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*16C>A MANE Select	ENSP00000249806.5:n.*16C>A
ENST00000562767.2:c.84-10496C>A	ENSP00000456336.1:n.84-10496C>A
ENST00000565471.6:c.*16C>A	ENSP00000457384.1:n.*16C>A
ENST00000635747.1:c.*855C>A	ENSP00000490627.1:n.*855C>A
ENST00000636964.1:n.2480C>A
ENST00000637054.1:c.198+10412C>A	ENSP00000490807.1:n.198+10412C>A
ENST00000637329.1:c.921C>A
ENST00000637494.1:c.*16C>A	ENSP00000490057.1:n.*16C>A
ENST00000637888.1:c.198+10412C>A	ENSP00000490546.1:n.198+10412C>A
ENST00000638076.1:c.*555C>A	ENSP00000490373.1:n.*555C>A
ENST00000646164.1:c.39-8443C>A
ENST00000249806.9:c.*16C>A	ENSP00000249806.5:n.*16C>A
ENST00000538696.5:c.*16C>A	ENSP00000445770.1:n.*16C>A
ENST00000562767.1:c.84-10496C>A	ENSP00000456336.1:n.84-10496C>A
ENST00000565471.5:c.*16C>A	ENSP00000457384.1:n.*16C>A
ENST00000566347.5:c.*16C>A	ENSP00000457783.1:n.*16C>A
ENST00000567060.5:c.*350C>A	ENSP00000454818.1:n.*350C>A
NM_017882.2:c.*16C>A	NP_060352.1:n.*16C>A
NM_017882.3:c.*16C>A MANE Select	NP_060352.1:n.*16C>A