Canonical Allele Identifier: CA2184878480

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208577_68208578delinsAT , CM000677.2:g.68208577_68208578delinsAT	GRCh38
NC_000015.9:g.68500915_68500916delinsAT , CM000677.1:g.68500915_68500916delinsAT	GRCh37
NC_000015.8:g.66287969_66287970delinsAT	NCBI36
NG_008764.2:g.53634_53635delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-168_666-167delinsAT MANE Select	ENSP00000249806.5:n.666-168_666-167delinsAT
ENST00000562767.2:c.84-10950_84-10949delinsAT	ENSP00000456336.1:n.84-10950_84-10949delinsAT
ENST00000563917.2:n.508-168_508-167delinsAT
ENST00000565471.6:c.207-168_207-167delinsAT	ENSP00000457384.1:n.207-168_207-167delinsAT
ENST00000635747.1:c.*569-168_*569-167delinsAT	ENSP00000490627.1:n.*569-168_*569-167delinsAT
ENST00000636212.1:c.*336-168_*336-167delinsAT	ENSP00000489851.1:n.*336-168_*336-167delinsAT
ENST00000636674.1:n.1768-168_1768-167delinsAT
ENST00000636964.1:n.2194-168_2194-167delinsAT
ENST00000637054.1:c.198+9958_198+9959delinsAT	ENSP00000490807.1:n.198+9958_198+9959delinsAT
ENST00000637329.1:c.635-168_635-167delinsAT
ENST00000637450.1:c.*320-168_*320-167delinsAT	ENSP00000490204.1:n.*320-168_*320-167delinsAT
ENST00000637494.1:c.378-168_378-167delinsAT	ENSP00000490057.1:n.378-168_378-167delinsAT
ENST00000637667.1:c.567-168_567-167delinsAT	ENSP00000489843.1:n.567-168_567-167delinsAT
ENST00000637823.1:c.491-168_491-167delinsAT
ENST00000637888.1:c.198+9958_198+9959delinsAT	ENSP00000490546.1:n.198+9958_198+9959delinsAT
ENST00000638076.1:c.*269-168_*269-167delinsAT	ENSP00000490373.1:n.*269-168_*269-167delinsAT
ENST00000638144.1:n.309-168_309-167delinsAT
ENST00000646164.1:c.39-8897_39-8896delinsAT
ENST00000249806.9:c.666-168_666-167delinsAT	ENSP00000249806.5:n.666-168_666-167delinsAT
ENST00000538696.5:c.762-168_762-167delinsAT	ENSP00000445770.1:n.762-168_762-167delinsAT
ENST00000562767.1:c.84-10950_84-10949delinsAT	ENSP00000456336.1:n.84-10950_84-10949delinsAT
ENST00000564752.1:c.*50-168_*50-167delinsAT	ENSP00000457822.1:n.*50-168_*50-167delinsAT
ENST00000565471.5:c.207-168_207-167delinsAT	ENSP00000457384.1:n.207-168_207-167delinsAT
ENST00000566347.5:c.477-168_477-167delinsAT	ENSP00000457783.1:n.477-168_477-167delinsAT
ENST00000567060.5:c.*64-168_*64-167delinsAT	ENSP00000454818.1:n.*64-168_*64-167delinsAT
NM_017882.2:c.666-168_666-167delinsAT	NP_060352.1:n.666-168_666-167delinsAT
XR_931861.1:n.888-168_888-167delinsAT
NM_017882.3:c.666-168_666-167delinsAT MANE Select	NP_060352.1:n.666-168_666-167delinsAT