Canonical Allele Identifier: CA2804592388

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208461_68208462insA , CM000677.2:g.68208461_68208462insA	GRCh38
NC_000015.9:g.68500799_68500800insA , CM000677.1:g.68500799_68500800insA	GRCh37
NC_000015.8:g.66287853_66287854insA	NCBI36
NG_008764.2:g.53750_53751insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-52_666-51insT MANE Select	ENSP00000249806.5:n.666-52_666-51insT
ENST00000562767.2:c.84-10834_84-10833insT	ENSP00000456336.1:n.84-10834_84-10833insT
ENST00000563917.2:n.508-52_508-51insT
ENST00000565471.6:c.207-52_207-51insT	ENSP00000457384.1:n.207-52_207-51insT
ENST00000635747.1:c.*569-52_*569-51insT	ENSP00000490627.1:n.*569-52_*569-51insT
ENST00000636212.1:c.*336-52_*336-51insT	ENSP00000489851.1:n.*336-52_*336-51insT
ENST00000636674.1:n.1768-52_1768-51insT
ENST00000636964.1:n.2194-52_2194-51insT
ENST00000637054.1:c.198+10074_198+10075insT	ENSP00000490807.1:n.198+10074_198+10075insT
ENST00000637329.1:c.635-52_635-51insT
ENST00000637450.1:c.*320-52_*320-51insT	ENSP00000490204.1:n.*320-52_*320-51insT
ENST00000637494.1:c.378-52_378-51insT	ENSP00000490057.1:n.378-52_378-51insT
ENST00000637667.1:c.567-52_567-51insT	ENSP00000489843.1:n.567-52_567-51insT
ENST00000637823.1:c.491-52_491-51insT
ENST00000637888.1:c.198+10074_198+10075insT	ENSP00000490546.1:n.198+10074_198+10075insT
ENST00000638076.1:c.*269-52_*269-51insT	ENSP00000490373.1:n.*269-52_*269-51insT
ENST00000638144.1:n.309-52_309-51insT
ENST00000646164.1:c.39-8781_39-8780insT
ENST00000249806.9:c.666-52_666-51insT	ENSP00000249806.5:n.666-52_666-51insT
ENST00000538696.5:c.762-52_762-51insT	ENSP00000445770.1:n.762-52_762-51insT
ENST00000562767.1:c.84-10834_84-10833insT	ENSP00000456336.1:n.84-10834_84-10833insT
ENST00000564752.1:c.*50-52_*50-51insT	ENSP00000457822.1:n.*50-52_*50-51insT
ENST00000565471.5:c.207-52_207-51insT	ENSP00000457384.1:n.207-52_207-51insT
ENST00000566347.5:c.477-52_477-51insT	ENSP00000457783.1:n.477-52_477-51insT
ENST00000567060.5:c.*64-52_*64-51insT	ENSP00000454818.1:n.*64-52_*64-51insT
NM_017882.2:c.666-52_666-51insT	NP_060352.1:n.666-52_666-51insT
XR_931861.1:n.888-52_888-51insT
NM_017882.3:c.666-52_666-51insT MANE Select	NP_060352.1:n.666-52_666-51insT