Canonical Allele Identifier: CA2629162348

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207796-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207796T>C , CM000677.2:g.68207796T>C	GRCh38
NC_000015.9:g.68500134T>C , CM000677.1:g.68500134T>C	GRCh37
NC_000015.8:g.66287188T>C	NCBI36
NG_008764.2:g.54416A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.*344A>G MANE Select	ENSP00000249806.5:n.*344A>G
ENST00000562767.2:c.84-10168A>G	ENSP00000456336.1:n.84-10168A>G
ENST00000565471.6:c.*344A>G	ENSP00000457384.1:n.*344A>G
ENST00000636964.1:n.2808A>G
ENST00000637054.1:c.199-10168A>G	ENSP00000490807.1:n.199-10168A>G
ENST00000637888.1:c.199-10168A>G	ENSP00000490546.1:n.199-10168A>G
ENST00000638076.1:c.*883A>G	ENSP00000490373.1:n.*883A>G
ENST00000646164.1:c.39-8115A>G
ENST00000249806.9:c.*344A>G	ENSP00000249806.5:n.*344A>G
ENST00000562767.1:c.84-10168A>G	ENSP00000456336.1:n.84-10168A>G
ENST00000565471.5:c.*344A>G	ENSP00000457384.1:n.*344A>G
NM_017882.2:c.*344A>G	NP_060352.1:n.*344A>G
NM_017882.3:c.*344A>G MANE Select	NP_060352.1:n.*344A>G