Canonical Allele Identifier: CA2184878935

Gene: CLN6

Linked Data

• dbSNP Id: rs2093197306

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209198_68209199dup , CM000677.2:g.68209198_68209199dup	GRCh38
NC_000015.9:g.68501536_68501537dup , CM000677.1:g.68501536_68501537dup	GRCh37
NC_000015.8:g.66288590_66288591dup	NCBI36
NG_008764.2:g.53014_53015dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+439_665+440dup MANE Select	ENSP00000249806.5:n.665+439_665+440dup
ENST00000562767.2:c.84-11570_84-11569dup	ENSP00000456336.1:n.84-11570_84-11569dup
ENST00000563917.2:n.507+439_507+440dup
ENST00000565471.6:c.206+439_206+440dup	ENSP00000457384.1:n.206+439_206+440dup
ENST00000635747.1:c.*568+439_*568+440dup	ENSP00000490627.1:n.*568+439_*568+440dup
ENST00000636212.1:c.*335+439_*335+440dup	ENSP00000489851.1:n.*335+439_*335+440dup
ENST00000636674.1:n.1767+439_1767+440dup
ENST00000636964.1:n.2193+439_2193+440dup
ENST00000637054.1:c.198+9338_198+9339dup	ENSP00000490807.1:n.198+9338_198+9339dup
ENST00000637329.1:c.634+439_634+440dup
ENST00000637450.1:c.*319+439_*319+440dup	ENSP00000490204.1:n.*319+439_*319+440dup
ENST00000637494.1:c.377+439_377+440dup	ENSP00000490057.1:n.377+439_377+440dup
ENST00000637667.1:c.566+439_566+440dup	ENSP00000489843.1:n.566+439_566+440dup
ENST00000637823.1:c.490+439_490+440dup
ENST00000637888.1:c.198+9338_198+9339dup	ENSP00000490546.1:n.198+9338_198+9339dup
ENST00000638076.1:c.*268+439_*268+440dup	ENSP00000490373.1:n.*268+439_*268+440dup
ENST00000638144.1:n.308+439_308+440dup
ENST00000646164.1:c.38+9338_38+9339dup
ENST00000249806.9:c.665+439_665+440dup	ENSP00000249806.5:n.665+439_665+440dup
ENST00000538696.5:c.761+439_761+440dup	ENSP00000445770.1:n.761+439_761+440dup
ENST00000562767.1:c.84-11570_84-11569dup	ENSP00000456336.1:n.84-11570_84-11569dup
ENST00000564752.1:c.*49+439_*49+440dup	ENSP00000457822.1:n.*49+439_*49+440dup
ENST00000565471.5:c.206+439_206+440dup	ENSP00000457384.1:n.206+439_206+440dup
ENST00000566347.5:c.476+439_476+440dup	ENSP00000457783.1:n.476+439_476+440dup
ENST00000567060.5:c.*63+439_*63+440dup	ENSP00000454818.1:n.*63+439_*63+440dup
NM_017882.2:c.665+439_665+440dup	NP_060352.1:n.665+439_665+440dup
XR_931861.1:n.887+439_887+440dup
NM_017882.3:c.665+439_665+440dup MANE Select	NP_060352.1:n.665+439_665+440dup