Canonical Allele Identifier: CA2804592459

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208599_68208600insACA , CM000677.2:g.68208599_68208600insACA	GRCh38
NC_000015.9:g.68500937_68500938insACA , CM000677.1:g.68500937_68500938insACA	GRCh37
NC_000015.8:g.66287991_66287992insACA	NCBI36
NG_008764.2:g.53612_53613insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-190_666-189insTGT MANE Select	ENSP00000249806.5:n.666-190_666-189insTGT
ENST00000562767.2:c.84-10972_84-10971insTGT	ENSP00000456336.1:n.84-10972_84-10971insTGT
ENST00000563917.2:n.508-190_508-189insTGT
ENST00000565471.6:c.207-190_207-189insTGT	ENSP00000457384.1:n.207-190_207-189insTGT
ENST00000635747.1:c.*569-190_*569-189insTGT	ENSP00000490627.1:n.*569-190_*569-189insTGT
ENST00000636212.1:c.*336-190_*336-189insTGT	ENSP00000489851.1:n.*336-190_*336-189insTGT
ENST00000636674.1:n.1768-190_1768-189insTGT
ENST00000636964.1:n.2194-190_2194-189insTGT
ENST00000637054.1:c.198+9936_198+9937insTGT	ENSP00000490807.1:n.198+9936_198+9937insTGT
ENST00000637329.1:c.635-190_635-189insTGT
ENST00000637450.1:c.*320-190_*320-189insTGT	ENSP00000490204.1:n.*320-190_*320-189insTGT
ENST00000637494.1:c.378-190_378-189insTGT	ENSP00000490057.1:n.378-190_378-189insTGT
ENST00000637667.1:c.567-190_567-189insTGT	ENSP00000489843.1:n.567-190_567-189insTGT
ENST00000637823.1:c.491-190_491-189insTGT
ENST00000637888.1:c.198+9936_198+9937insTGT	ENSP00000490546.1:n.198+9936_198+9937insTGT
ENST00000638076.1:c.*269-190_*269-189insTGT	ENSP00000490373.1:n.*269-190_*269-189insTGT
ENST00000638144.1:n.309-190_309-189insTGT
ENST00000646164.1:c.39-8919_39-8918insTGT
ENST00000249806.9:c.666-190_666-189insTGT	ENSP00000249806.5:n.666-190_666-189insTGT
ENST00000538696.5:c.762-190_762-189insTGT	ENSP00000445770.1:n.762-190_762-189insTGT
ENST00000562767.1:c.84-10972_84-10971insTGT	ENSP00000456336.1:n.84-10972_84-10971insTGT
ENST00000564752.1:c.*50-190_*50-189insTGT	ENSP00000457822.1:n.*50-190_*50-189insTGT
ENST00000565471.5:c.207-190_207-189insTGT	ENSP00000457384.1:n.207-190_207-189insTGT
ENST00000566347.5:c.477-190_477-189insTGT	ENSP00000457783.1:n.477-190_477-189insTGT
ENST00000567060.5:c.*64-190_*64-189insTGT	ENSP00000454818.1:n.*64-190_*64-189insTGT
NM_017882.2:c.666-190_666-189insTGT	NP_060352.1:n.666-190_666-189insTGT
XR_931861.1:n.888-190_888-189insTGT
NM_017882.3:c.666-190_666-189insTGT MANE Select	NP_060352.1:n.666-190_666-189insTGT