Canonical Allele Identifier: CA2804592422

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208505_68208509del , CM000677.2:g.68208505_68208509del	GRCh38
NC_000015.9:g.68500843_68500847del , CM000677.1:g.68500843_68500847del	GRCh37
NC_000015.8:g.66287897_66287901del	NCBI36
NG_008764.2:g.53703_53707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-99_666-95del MANE Select	ENSP00000249806.5:n.666-99_666-95del
ENST00000562767.2:c.84-10881_84-10877del	ENSP00000456336.1:n.84-10881_84-10877del
ENST00000563917.2:n.508-99_508-95del
ENST00000565471.6:c.207-99_207-95del	ENSP00000457384.1:n.207-99_207-95del
ENST00000635747.1:c.*569-99_*569-95del	ENSP00000490627.1:n.*569-99_*569-95del
ENST00000636212.1:c.*336-99_*336-95del	ENSP00000489851.1:n.*336-99_*336-95del
ENST00000636674.1:n.1768-99_1768-95del
ENST00000636964.1:n.2194-99_2194-95del
ENST00000637054.1:c.198+10027_198+10031del	ENSP00000490807.1:n.198+10027_198+10031del
ENST00000637329.1:c.635-99_635-95del
ENST00000637450.1:c.*320-99_*320-95del	ENSP00000490204.1:n.*320-99_*320-95del
ENST00000637494.1:c.378-99_378-95del	ENSP00000490057.1:n.378-99_378-95del
ENST00000637667.1:c.567-99_567-95del	ENSP00000489843.1:n.567-99_567-95del
ENST00000637823.1:c.491-99_491-95del
ENST00000637888.1:c.198+10027_198+10031del	ENSP00000490546.1:n.198+10027_198+10031del
ENST00000638076.1:c.*269-99_*269-95del	ENSP00000490373.1:n.*269-99_*269-95del
ENST00000638144.1:n.309-99_309-95del
ENST00000646164.1:c.39-8828_39-8824del
ENST00000249806.9:c.666-99_666-95del	ENSP00000249806.5:n.666-99_666-95del
ENST00000538696.5:c.762-99_762-95del	ENSP00000445770.1:n.762-99_762-95del
ENST00000562767.1:c.84-10881_84-10877del	ENSP00000456336.1:n.84-10881_84-10877del
ENST00000564752.1:c.*50-99_*50-95del	ENSP00000457822.1:n.*50-99_*50-95del
ENST00000565471.5:c.207-99_207-95del	ENSP00000457384.1:n.207-99_207-95del
ENST00000566347.5:c.477-99_477-95del	ENSP00000457783.1:n.477-99_477-95del
ENST00000567060.5:c.*64-99_*64-95del	ENSP00000454818.1:n.*64-99_*64-95del
NM_017882.2:c.666-99_666-95del	NP_060352.1:n.666-99_666-95del
XR_931861.1:n.888-99_888-95del
NM_017882.3:c.666-99_666-95del MANE Select	NP_060352.1:n.666-99_666-95del