Canonical Allele Identifier: CA2184878130

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218158_68218159delinsAG , CM000677.2:g.68218158_68218159delinsAG	GRCh38
NC_000015.9:g.68510496_68510497delinsAG , CM000677.1:g.68510496_68510497delinsAG	GRCh37
NC_000015.8:g.66297550_66297551delinsAG	NCBI36
NG_008764.2:g.44053_44054delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+377_198+378delinsCT MANE Select	ENSP00000249806.5:n.198+377_198+378delinsCT
ENST00000562767.2:c.83+11343_83+11344delinsCT	ENSP00000456336.1:n.83+11343_83+11344delinsCT
ENST00000563917.2:n.41-3771_41-3770delinsCT
ENST00000565471.6:c.84-8400_84-8399delinsCT	ENSP00000457384.1:n.84-8400_84-8399delinsCT
ENST00000569336.2:n.484_485delinsCT
ENST00000635747.1:c.*101+377_*101+378delinsCT	ENSP00000490627.1:n.*101+377_*101+378delinsCT
ENST00000636020.1:n.330+377_330+378delinsCT
ENST00000636212.1:c.198+377_198+378delinsCT	ENSP00000489851.1:n.198+377_198+378delinsCT
ENST00000636314.1:c.84-3771_84-3770delinsCT	ENSP00000490295.1:n.84-3771_84-3770delinsCT
ENST00000637054.1:c.198+377_198+378delinsCT	ENSP00000490807.1:n.198+377_198+378delinsCT
ENST00000637223.1:c.*101+377_*101+378delinsCT	ENSP00000490010.1:n.*101+377_*101+378delinsCT
ENST00000637329.1:c.109+377_109+378delinsCT
ENST00000637450.1:c.84-3771_84-3770delinsCT	ENSP00000490204.1:n.84-3771_84-3770delinsCT
ENST00000637494.1:c.198+377_198+378delinsCT	ENSP00000490057.1:n.198+377_198+378delinsCT
ENST00000637667.1:c.198+377_198+378delinsCT	ENSP00000489843.1:n.198+377_198+378delinsCT
ENST00000637823.1:c.124+377_124+378delinsCT
ENST00000637888.1:c.198+377_198+378delinsCT	ENSP00000490546.1:n.198+377_198+378delinsCT
ENST00000638076.1:c.198+377_198+378delinsCT	ENSP00000490373.1:n.198+377_198+378delinsCT
ENST00000638144.1:n.31-3771_31-3770delinsCT
ENST00000646164.1:c.38+377_38+378delinsCT
ENST00000249806.9:c.198+377_198+378delinsCT	ENSP00000249806.5:n.198+377_198+378delinsCT
ENST00000538696.5:c.294+377_294+378delinsCT	ENSP00000445770.1:n.294+377_294+378delinsCT
ENST00000562767.1:c.83+11343_83+11344delinsCT	ENSP00000456336.1:n.83+11343_83+11344delinsCT
ENST00000564752.1:c.198+377_198+378delinsCT	ENSP00000457822.1:n.198+377_198+378delinsCT
ENST00000564846.1:n.630+377_630+378delinsCT
ENST00000565471.5:c.84-8400_84-8399delinsCT	ENSP00000457384.1:n.84-8400_84-8399delinsCT
ENST00000566347.5:c.198+377_198+378delinsCT	ENSP00000457783.1:n.198+377_198+378delinsCT
ENST00000567060.5:c.198+377_198+378delinsCT	ENSP00000454818.1:n.198+377_198+378delinsCT
ENST00000569336.1:n.353+308_353+309delinsCT
NM_017882.2:c.198+377_198+378delinsCT	NP_060352.1:n.198+377_198+378delinsCT
XR_931861.1:n.301+377_301+378delinsCT
NM_017882.3:c.198+377_198+378delinsCT MANE Select	NP_060352.1:n.198+377_198+378delinsCT