Canonical Allele Identifier: CA2629163060

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208060-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208060C>T , CM000677.2:g.68208060C>T	GRCh38
NC_000015.9:g.68500398C>T , CM000677.1:g.68500398C>T	GRCh37
NC_000015.8:g.66287452C>T	NCBI36
NG_008764.2:g.54152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*80G>A MANE Select	ENSP00000249806.5:n.*80G>A
ENST00000562767.2:c.84-10432G>A	ENSP00000456336.1:n.84-10432G>A
ENST00000565471.6:c.*80G>A	ENSP00000457384.1:n.*80G>A
ENST00000636964.1:n.2544G>A
ENST00000637054.1:c.199-10432G>A	ENSP00000490807.1:n.199-10432G>A
ENST00000637329.1:c.985G>A
ENST00000637888.1:c.199-10432G>A	ENSP00000490546.1:n.199-10432G>A
ENST00000638076.1:c.*619G>A	ENSP00000490373.1:n.*619G>A
ENST00000646164.1:c.39-8379G>A
ENST00000249806.9:c.*80G>A	ENSP00000249806.5:n.*80G>A
ENST00000562767.1:c.84-10432G>A	ENSP00000456336.1:n.84-10432G>A
ENST00000565471.5:c.*80G>A	ENSP00000457384.1:n.*80G>A
ENST00000566347.5:c.*80G>A	ENSP00000457783.1:n.*80G>A
ENST00000567060.5:c.*414G>A	ENSP00000454818.1:n.*414G>A
NM_017882.2:c.*80G>A	NP_060352.1:n.*80G>A
NM_017882.3:c.*80G>A MANE Select	NP_060352.1:n.*80G>A