Canonical Allele Identifier: CA2804592454

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208569_68208571del , CM000677.2:g.68208569_68208571del	GRCh38
NC_000015.9:g.68500907_68500909del , CM000677.1:g.68500907_68500909del	GRCh37
NC_000015.8:g.66287961_66287963del	NCBI36
NG_008764.2:g.53641_53643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-161_666-159del MANE Select	ENSP00000249806.5:n.666-161_666-159del
ENST00000562767.2:c.84-10943_84-10941del	ENSP00000456336.1:n.84-10943_84-10941del
ENST00000563917.2:n.508-161_508-159del
ENST00000565471.6:c.207-161_207-159del	ENSP00000457384.1:n.207-161_207-159del
ENST00000635747.1:c.*569-161_*569-159del	ENSP00000490627.1:n.*569-161_*569-159del
ENST00000636212.1:c.*336-161_*336-159del	ENSP00000489851.1:n.*336-161_*336-159del
ENST00000636674.1:n.1768-161_1768-159del
ENST00000636964.1:n.2194-161_2194-159del
ENST00000637054.1:c.198+9965_198+9967del	ENSP00000490807.1:n.198+9965_198+9967del
ENST00000637329.1:c.635-161_635-159del
ENST00000637450.1:c.*320-161_*320-159del	ENSP00000490204.1:n.*320-161_*320-159del
ENST00000637494.1:c.378-161_378-159del	ENSP00000490057.1:n.378-161_378-159del
ENST00000637667.1:c.567-161_567-159del	ENSP00000489843.1:n.567-161_567-159del
ENST00000637823.1:c.491-161_491-159del
ENST00000637888.1:c.198+9965_198+9967del	ENSP00000490546.1:n.198+9965_198+9967del
ENST00000638076.1:c.*269-161_*269-159del	ENSP00000490373.1:n.*269-161_*269-159del
ENST00000638144.1:n.309-161_309-159del
ENST00000646164.1:c.39-8890_39-8888del
ENST00000249806.9:c.666-161_666-159del	ENSP00000249806.5:n.666-161_666-159del
ENST00000538696.5:c.762-161_762-159del	ENSP00000445770.1:n.762-161_762-159del
ENST00000562767.1:c.84-10943_84-10941del	ENSP00000456336.1:n.84-10943_84-10941del
ENST00000564752.1:c.*50-161_*50-159del	ENSP00000457822.1:n.*50-161_*50-159del
ENST00000565471.5:c.207-161_207-159del	ENSP00000457384.1:n.207-161_207-159del
ENST00000566347.5:c.477-161_477-159del	ENSP00000457783.1:n.477-161_477-159del
ENST00000567060.5:c.*64-161_*64-159del	ENSP00000454818.1:n.*64-161_*64-159del
NM_017882.2:c.666-161_666-159del	NP_060352.1:n.666-161_666-159del
XR_931861.1:n.888-161_888-159del
NM_017882.3:c.666-161_666-159del MANE Select	NP_060352.1:n.666-161_666-159del