Canonical Allele Identifier: CA2184879442

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209635_68209636delinsAC , CM000677.2:g.68209635_68209636delinsAC	GRCh38
NC_000015.9:g.68501973_68501974delinsAC , CM000677.1:g.68501973_68501974delinsAC	GRCh37
NC_000015.8:g.66289027_66289028delinsAC	NCBI36
NG_008764.2:g.52576_52577delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+1_665+2delinsGT MANE Select	ENSP00000249806.5:n.665+1_665+2delinsGT
ENST00000562767.2:c.84-12008_84-12007delinsGT	ENSP00000456336.1:n.84-12008_84-12007delinsGT
ENST00000563917.2:n.507+1_507+2delinsGT
ENST00000565471.6:c.206+1_206+2delinsGT	ENSP00000457384.1:n.206+1_206+2delinsGT
ENST00000635747.1:c.*568+1_*568+2delinsGT	ENSP00000490627.1:n.*568+1_*568+2delinsGT
ENST00000636212.1:c.*335+1_*335+2delinsGT	ENSP00000489851.1:n.*335+1_*335+2delinsGT
ENST00000636674.1:n.1767+1_1767+2delinsGT
ENST00000636964.1:n.2193+1_2193+2delinsGT
ENST00000637054.1:c.198+8900_198+8901delinsGT	ENSP00000490807.1:n.198+8900_198+8901delinsGT
ENST00000637329.1:c.634+1_634+2delinsGT
ENST00000637450.1:c.*319+1_*319+2delinsGT	ENSP00000490204.1:n.*319+1_*319+2delinsGT
ENST00000637494.1:c.377+1_377+2delinsGT	ENSP00000490057.1:n.377+1_377+2delinsGT
ENST00000637667.1:c.566+1_566+2delinsGT	ENSP00000489843.1:n.566+1_566+2delinsGT
ENST00000637823.1:c.490+1_490+2delinsGT
ENST00000637888.1:c.198+8900_198+8901delinsGT	ENSP00000490546.1:n.198+8900_198+8901delinsGT
ENST00000638076.1:c.*268+1_*268+2delinsGT	ENSP00000490373.1:n.*268+1_*268+2delinsGT
ENST00000638144.1:n.308+1_308+2delinsGT
ENST00000646164.1:c.38+8900_38+8901delinsGT
ENST00000249806.9:c.665+1_665+2delinsGT	ENSP00000249806.5:n.665+1_665+2delinsGT
ENST00000538696.5:c.761+1_761+2delinsGT	ENSP00000445770.1:n.761+1_761+2delinsGT
ENST00000562767.1:c.84-12008_84-12007delinsGT	ENSP00000456336.1:n.84-12008_84-12007delinsGT
ENST00000563917.1:n.566_567delinsGT
ENST00000564752.1:c.*49+1_*49+2delinsGT	ENSP00000457822.1:n.*49+1_*49+2delinsGT
ENST00000565471.5:c.206+1_206+2delinsGT	ENSP00000457384.1:n.206+1_206+2delinsGT
ENST00000566347.5:c.476+1_476+2delinsGT	ENSP00000457783.1:n.476+1_476+2delinsGT
ENST00000567060.5:c.*63+1_*63+2delinsGT	ENSP00000454818.1:n.*63+1_*63+2delinsGT
NM_017882.2:c.665+1_665+2delinsGT	NP_060352.1:n.665+1_665+2delinsGT
XR_931861.1:n.887+1_887+2delinsGT
NM_017882.3:c.665+1_665+2delinsGT MANE Select	NP_060352.1:n.665+1_665+2delinsGT