Canonical Allele Identifier: CA2184878913

Gene: CLN6

Linked Data

• dbSNP Id: rs2093197230

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209168_68209169insA , CM000677.2:g.68209168_68209169insA	GRCh38
NC_000015.9:g.68501506_68501507insA , CM000677.1:g.68501506_68501507insA	GRCh37
NC_000015.8:g.66288560_66288561insA	NCBI36
NG_008764.2:g.53043_53044insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+468_665+469insT MANE Select	ENSP00000249806.5:n.665+468_665+469insT
ENST00000562767.2:c.84-11541_84-11540insT	ENSP00000456336.1:n.84-11541_84-11540insT
ENST00000563917.2:n.507+468_507+469insT
ENST00000565471.6:c.206+468_206+469insT	ENSP00000457384.1:n.206+468_206+469insT
ENST00000635747.1:c.*568+468_*568+469insT	ENSP00000490627.1:n.*568+468_*568+469insT
ENST00000636212.1:c.*335+468_*335+469insT	ENSP00000489851.1:n.*335+468_*335+469insT
ENST00000636674.1:n.1767+468_1767+469insT
ENST00000636964.1:n.2193+468_2193+469insT
ENST00000637054.1:c.198+9367_198+9368insT	ENSP00000490807.1:n.198+9367_198+9368insT
ENST00000637329.1:c.634+468_634+469insT
ENST00000637450.1:c.*319+468_*319+469insT	ENSP00000490204.1:n.*319+468_*319+469insT
ENST00000637494.1:c.377+468_377+469insT	ENSP00000490057.1:n.377+468_377+469insT
ENST00000637667.1:c.566+468_566+469insT	ENSP00000489843.1:n.566+468_566+469insT
ENST00000637823.1:c.490+468_490+469insT
ENST00000637888.1:c.198+9367_198+9368insT	ENSP00000490546.1:n.198+9367_198+9368insT
ENST00000638076.1:c.*268+468_*268+469insT	ENSP00000490373.1:n.*268+468_*268+469insT
ENST00000638144.1:n.308+468_308+469insT
ENST00000646164.1:c.38+9367_38+9368insT
ENST00000249806.9:c.665+468_665+469insT	ENSP00000249806.5:n.665+468_665+469insT
ENST00000538696.5:c.761+468_761+469insT	ENSP00000445770.1:n.761+468_761+469insT
ENST00000562767.1:c.84-11541_84-11540insT	ENSP00000456336.1:n.84-11541_84-11540insT
ENST00000564752.1:c.*49+468_*49+469insT	ENSP00000457822.1:n.*49+468_*49+469insT
ENST00000565471.5:c.206+468_206+469insT	ENSP00000457384.1:n.206+468_206+469insT
ENST00000566347.5:c.476+468_476+469insT	ENSP00000457783.1:n.476+468_476+469insT
ENST00000567060.5:c.*63+468_*63+469insT	ENSP00000454818.1:n.*63+468_*63+469insT
NM_017882.2:c.665+468_665+469insT	NP_060352.1:n.665+468_665+469insT
XR_931861.1:n.887+468_887+469insT
NM_017882.3:c.665+468_665+469insT MANE Select	NP_060352.1:n.665+468_665+469insT