Canonical Allele Identifier: CA2629164311

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209555-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209555_68209556insC , CM000677.2:g.68209555_68209556insC	GRCh38
NC_000015.9:g.68501893_68501894insC , CM000677.1:g.68501893_68501894insC	GRCh37
NC_000015.8:g.66288947_66288948insC	NCBI36
NG_008764.2:g.52656_52657insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+81_665+82insG MANE Select	ENSP00000249806.5:n.665+81_665+82insG
ENST00000562767.2:c.84-11928_84-11927insG	ENSP00000456336.1:n.84-11928_84-11927insG
ENST00000563917.2:n.507+81_507+82insG
ENST00000565471.6:c.206+81_206+82insG	ENSP00000457384.1:n.206+81_206+82insG
ENST00000635747.1:c.*568+81_*568+82insG	ENSP00000490627.1:n.*568+81_*568+82insG
ENST00000636212.1:c.*335+81_*335+82insG	ENSP00000489851.1:n.*335+81_*335+82insG
ENST00000636674.1:n.1767+81_1767+82insG
ENST00000636964.1:n.2193+81_2193+82insG
ENST00000637054.1:c.198+8980_198+8981insG	ENSP00000490807.1:n.198+8980_198+8981insG
ENST00000637329.1:c.634+81_634+82insG
ENST00000637450.1:c.*319+81_*319+82insG	ENSP00000490204.1:n.*319+81_*319+82insG
ENST00000637494.1:c.377+81_377+82insG	ENSP00000490057.1:n.377+81_377+82insG
ENST00000637667.1:c.566+81_566+82insG	ENSP00000489843.1:n.566+81_566+82insG
ENST00000637823.1:c.490+81_490+82insG
ENST00000637888.1:c.198+8980_198+8981insG	ENSP00000490546.1:n.198+8980_198+8981insG
ENST00000638076.1:c.*268+81_*268+82insG	ENSP00000490373.1:n.*268+81_*268+82insG
ENST00000638144.1:n.308+81_308+82insG
ENST00000646164.1:c.38+8980_38+8981insG
ENST00000249806.9:c.665+81_665+82insG	ENSP00000249806.5:n.665+81_665+82insG
ENST00000538696.5:c.761+81_761+82insG	ENSP00000445770.1:n.761+81_761+82insG
ENST00000562767.1:c.84-11928_84-11927insG	ENSP00000456336.1:n.84-11928_84-11927insG
ENST00000564752.1:c.*49+81_*49+82insG	ENSP00000457822.1:n.*49+81_*49+82insG
ENST00000565471.5:c.206+81_206+82insG	ENSP00000457384.1:n.206+81_206+82insG
ENST00000566347.5:c.476+81_476+82insG	ENSP00000457783.1:n.476+81_476+82insG
ENST00000567060.5:c.*63+81_*63+82insG	ENSP00000454818.1:n.*63+81_*63+82insG
NM_017882.2:c.665+81_665+82insG	NP_060352.1:n.665+81_665+82insG
XR_931861.1:n.887+81_887+82insG
NM_017882.3:c.665+81_665+82insG MANE Select	NP_060352.1:n.665+81_665+82insG