Canonical Allele Identifier: CA2804592474

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209229T>G , CM000677.2:g.68209229T>G	GRCh38
NC_000015.9:g.68501567T>G , CM000677.1:g.68501567T>G	GRCh37
NC_000015.8:g.66288621T>G	NCBI36
NG_008764.2:g.52983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+408A>C MANE Select	ENSP00000249806.5:n.665+408A>C
ENST00000562767.2:c.84-11601A>C	ENSP00000456336.1:n.84-11601A>C
ENST00000563917.2:n.507+408A>C
ENST00000565471.6:c.206+408A>C	ENSP00000457384.1:n.206+408A>C
ENST00000635747.1:c.*568+408A>C	ENSP00000490627.1:n.*568+408A>C
ENST00000636212.1:c.*335+408A>C	ENSP00000489851.1:n.*335+408A>C
ENST00000636674.1:n.1767+408A>C
ENST00000636964.1:n.2193+408A>C
ENST00000637054.1:c.198+9307A>C	ENSP00000490807.1:n.198+9307A>C
ENST00000637329.1:c.634+408A>C
ENST00000637450.1:c.*319+408A>C	ENSP00000490204.1:n.*319+408A>C
ENST00000637494.1:c.377+408A>C	ENSP00000490057.1:n.377+408A>C
ENST00000637667.1:c.566+408A>C	ENSP00000489843.1:n.566+408A>C
ENST00000637823.1:c.490+408A>C
ENST00000637888.1:c.198+9307A>C	ENSP00000490546.1:n.198+9307A>C
ENST00000638076.1:c.*268+408A>C	ENSP00000490373.1:n.*268+408A>C
ENST00000638144.1:n.308+408A>C
ENST00000646164.1:c.38+9307A>C
ENST00000249806.9:c.665+408A>C	ENSP00000249806.5:n.665+408A>C
ENST00000538696.5:c.761+408A>C	ENSP00000445770.1:n.761+408A>C
ENST00000562767.1:c.84-11601A>C	ENSP00000456336.1:n.84-11601A>C
ENST00000564752.1:c.*49+408A>C	ENSP00000457822.1:n.*49+408A>C
ENST00000565471.5:c.206+408A>C	ENSP00000457384.1:n.206+408A>C
ENST00000566347.5:c.476+408A>C	ENSP00000457783.1:n.476+408A>C
ENST00000567060.5:c.*63+408A>C	ENSP00000454818.1:n.*63+408A>C
NM_017882.2:c.665+408A>C	NP_060352.1:n.665+408A>C
XR_931861.1:n.887+408A>C
NM_017882.3:c.665+408A>C MANE Select	NP_060352.1:n.665+408A>C