Canonical Allele Identifier: CA2629162077

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207636-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207636G>A , CM000677.2:g.68207636G>A	GRCh38
NC_000015.9:g.68499974G>A , CM000677.1:g.68499974G>A	GRCh37
NC_000015.8:g.66287028G>A	NCBI36
NG_008764.2:g.54576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*504C>T MANE Select	ENSP00000249806.5:n.*504C>T
ENST00000562767.2:c.84-10008C>T	ENSP00000456336.1:n.84-10008C>T
ENST00000565471.6:c.*504C>T	ENSP00000457384.1:n.*504C>T
ENST00000636964.1:n.2968C>T
ENST00000637054.1:c.199-10008C>T	ENSP00000490807.1:n.199-10008C>T
ENST00000637888.1:c.199-10008C>T	ENSP00000490546.1:n.199-10008C>T
ENST00000638026.1:n.45C>T
ENST00000638076.1:c.*1043C>T	ENSP00000490373.1:n.*1043C>T
ENST00000646164.1:c.39-7955C>T
ENST00000249806.9:c.*504C>T	ENSP00000249806.5:n.*504C>T
ENST00000562767.1:c.84-10008C>T	ENSP00000456336.1:n.84-10008C>T
ENST00000565471.5:c.*504C>T	ENSP00000457384.1:n.*504C>T
NM_017882.2:c.*504C>T	NP_060352.1:n.*504C>T
NM_017882.3:c.*504C>T MANE Select	NP_060352.1:n.*504C>T