Canonical Allele Identifier: CA2629162067

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207627-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207627C>A , CM000677.2:g.68207627C>A	GRCh38
NC_000015.9:g.68499965C>A , CM000677.1:g.68499965C>A	GRCh37
NC_000015.8:g.66287019C>A	NCBI36
NG_008764.2:g.54585G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*513G>T MANE Select	ENSP00000249806.5:n.*513G>T
ENST00000562767.2:c.84-9999G>T	ENSP00000456336.1:n.84-9999G>T
ENST00000636964.1:n.2977G>T
ENST00000637054.1:c.199-9999G>T	ENSP00000490807.1:n.199-9999G>T
ENST00000637888.1:c.199-9999G>T	ENSP00000490546.1:n.199-9999G>T
ENST00000638026.1:n.54G>T
ENST00000638076.1:c.*1052G>T	ENSP00000490373.1:n.*1052G>T
ENST00000646164.1:c.39-7946G>T
ENST00000249806.9:c.*513G>T	ENSP00000249806.5:n.*513G>T
ENST00000562767.1:c.84-9999G>T	ENSP00000456336.1:n.84-9999G>T
NM_017882.2:c.*513G>T	NP_060352.1:n.*513G>T
NM_017882.3:c.*513G>T MANE Select	NP_060352.1:n.*513G>T