Canonical Allele Identifier: CA2804592415

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208494_68208495insA , CM000677.2:g.68208494_68208495insA	GRCh38
NC_000015.9:g.68500832_68500833insA , CM000677.1:g.68500832_68500833insA	GRCh37
NC_000015.8:g.66287886_66287887insA	NCBI36
NG_008764.2:g.53717_53718insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-85_666-84insT MANE Select	ENSP00000249806.5:n.666-85_666-84insT
ENST00000562767.2:c.84-10867_84-10866insT	ENSP00000456336.1:n.84-10867_84-10866insT
ENST00000563917.2:n.508-85_508-84insT
ENST00000565471.6:c.207-85_207-84insT	ENSP00000457384.1:n.207-85_207-84insT
ENST00000635747.1:c.*569-85_*569-84insT	ENSP00000490627.1:n.*569-85_*569-84insT
ENST00000636212.1:c.*336-85_*336-84insT	ENSP00000489851.1:n.*336-85_*336-84insT
ENST00000636674.1:n.1768-85_1768-84insT
ENST00000636964.1:n.2194-85_2194-84insT
ENST00000637054.1:c.198+10041_198+10042insT	ENSP00000490807.1:n.198+10041_198+10042insT
ENST00000637329.1:c.635-85_635-84insT
ENST00000637450.1:c.*320-85_*320-84insT	ENSP00000490204.1:n.*320-85_*320-84insT
ENST00000637494.1:c.378-85_378-84insT	ENSP00000490057.1:n.378-85_378-84insT
ENST00000637667.1:c.567-85_567-84insT	ENSP00000489843.1:n.567-85_567-84insT
ENST00000637823.1:c.491-85_491-84insT
ENST00000637888.1:c.198+10041_198+10042insT	ENSP00000490546.1:n.198+10041_198+10042insT
ENST00000638076.1:c.*269-85_*269-84insT	ENSP00000490373.1:n.*269-85_*269-84insT
ENST00000638144.1:n.309-85_309-84insT
ENST00000646164.1:c.39-8814_39-8813insT
ENST00000249806.9:c.666-85_666-84insT	ENSP00000249806.5:n.666-85_666-84insT
ENST00000538696.5:c.762-85_762-84insT	ENSP00000445770.1:n.762-85_762-84insT
ENST00000562767.1:c.84-10867_84-10866insT	ENSP00000456336.1:n.84-10867_84-10866insT
ENST00000564752.1:c.*50-85_*50-84insT	ENSP00000457822.1:n.*50-85_*50-84insT
ENST00000565471.5:c.207-85_207-84insT	ENSP00000457384.1:n.207-85_207-84insT
ENST00000566347.5:c.477-85_477-84insT	ENSP00000457783.1:n.477-85_477-84insT
ENST00000567060.5:c.*64-85_*64-84insT	ENSP00000454818.1:n.*64-85_*64-84insT
NM_017882.2:c.666-85_666-84insT	NP_060352.1:n.666-85_666-84insT
XR_931861.1:n.888-85_888-84insT
NM_017882.3:c.666-85_666-84insT MANE Select	NP_060352.1:n.666-85_666-84insT