Canonical Allele Identifier: CA2804592376

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208440_68208441insA , CM000677.2:g.68208440_68208441insA	GRCh38
NC_000015.9:g.68500778_68500779insA , CM000677.1:g.68500778_68500779insA	GRCh37
NC_000015.8:g.66287832_66287833insA	NCBI36
NG_008764.2:g.53771_53772insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-31_666-30insT MANE Select	ENSP00000249806.5:n.666-31_666-30insT
ENST00000562767.2:c.84-10813_84-10812insT	ENSP00000456336.1:n.84-10813_84-10812insT
ENST00000563917.2:n.508-31_508-30insT
ENST00000565471.6:c.207-31_207-30insT	ENSP00000457384.1:n.207-31_207-30insT
ENST00000635747.1:c.*569-31_*569-30insT	ENSP00000490627.1:n.*569-31_*569-30insT
ENST00000636212.1:c.*336-31_*336-30insT	ENSP00000489851.1:n.*336-31_*336-30insT
ENST00000636674.1:n.1768-31_1768-30insT
ENST00000636964.1:n.2194-31_2194-30insT
ENST00000637054.1:c.198+10095_198+10096insT	ENSP00000490807.1:n.198+10095_198+10096insT
ENST00000637329.1:c.635-31_635-30insT
ENST00000637450.1:c.*320-31_*320-30insT	ENSP00000490204.1:n.*320-31_*320-30insT
ENST00000637494.1:c.378-31_378-30insT	ENSP00000490057.1:n.378-31_378-30insT
ENST00000637667.1:c.567-31_567-30insT	ENSP00000489843.1:n.567-31_567-30insT
ENST00000637823.1:c.491-31_491-30insT
ENST00000637888.1:c.198+10095_198+10096insT	ENSP00000490546.1:n.198+10095_198+10096insT
ENST00000638076.1:c.*269-31_*269-30insT	ENSP00000490373.1:n.*269-31_*269-30insT
ENST00000638144.1:n.309-31_309-30insT
ENST00000646164.1:c.39-8760_39-8759insT
ENST00000249806.9:c.666-31_666-30insT	ENSP00000249806.5:n.666-31_666-30insT
ENST00000538696.5:c.762-31_762-30insT	ENSP00000445770.1:n.762-31_762-30insT
ENST00000562767.1:c.84-10813_84-10812insT	ENSP00000456336.1:n.84-10813_84-10812insT
ENST00000564752.1:c.*50-31_*50-30insT	ENSP00000457822.1:n.*50-31_*50-30insT
ENST00000565471.5:c.207-31_207-30insT	ENSP00000457384.1:n.207-31_207-30insT
ENST00000566347.5:c.477-31_477-30insT	ENSP00000457783.1:n.477-31_477-30insT
ENST00000567060.5:c.*64-31_*64-30insT	ENSP00000454818.1:n.*64-31_*64-30insT
NM_017882.2:c.666-31_666-30insT	NP_060352.1:n.666-31_666-30insT
XR_931861.1:n.888-31_888-30insT
NM_017882.3:c.666-31_666-30insT MANE Select	NP_060352.1:n.666-31_666-30insT