Canonical Allele Identifier: CA2804592374

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208414_68208415del , CM000677.2:g.68208414_68208415del	GRCh38
NC_000015.9:g.68500752_68500753del , CM000677.1:g.68500752_68500753del	GRCh37
NC_000015.8:g.66287806_66287807del	NCBI36
NG_008764.2:g.53797_53798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-5_666-4del MANE Select	ENSP00000249806.5:n.666-5_666-4del
ENST00000562767.2:c.84-10787_84-10786del	ENSP00000456336.1:n.84-10787_84-10786del
ENST00000563917.2:n.508-5_508-4del
ENST00000565471.6:c.207-5_207-4del	ENSP00000457384.1:n.207-5_207-4del
ENST00000635747.1:c.*569-5_*569-4del	ENSP00000490627.1:n.*569-5_*569-4del
ENST00000636212.1:c.*336-5_*336-4del	ENSP00000489851.1:n.*336-5_*336-4del
ENST00000636674.1:n.1768-5_1768-4del
ENST00000636964.1:n.2194-5_2194-4del
ENST00000637054.1:c.198+10121_198+10122del	ENSP00000490807.1:n.198+10121_198+10122del
ENST00000637329.1:c.635-5_635-4del
ENST00000637450.1:c.*320-5_*320-4del	ENSP00000490204.1:n.*320-5_*320-4del
ENST00000637494.1:c.378-5_378-4del	ENSP00000490057.1:n.378-5_378-4del
ENST00000637667.1:c.567-5_567-4del	ENSP00000489843.1:n.567-5_567-4del
ENST00000637823.1:c.491-5_491-4del
ENST00000637888.1:c.198+10121_198+10122del	ENSP00000490546.1:n.198+10121_198+10122del
ENST00000638076.1:c.*269-5_*269-4del	ENSP00000490373.1:n.*269-5_*269-4del
ENST00000638144.1:n.309-5_309-4del
ENST00000646164.1:c.39-8734_39-8733del
ENST00000249806.9:c.666-5_666-4del	ENSP00000249806.5:n.666-5_666-4del
ENST00000538696.5:c.762-5_762-4del	ENSP00000445770.1:n.762-5_762-4del
ENST00000562767.1:c.84-10787_84-10786del	ENSP00000456336.1:n.84-10787_84-10786del
ENST00000564752.1:c.*50-5_*50-4del	ENSP00000457822.1:n.*50-5_*50-4del
ENST00000565471.5:c.207-5_207-4del	ENSP00000457384.1:n.207-5_207-4del
ENST00000566347.5:c.477-5_477-4del	ENSP00000457783.1:n.477-5_477-4del
ENST00000567060.5:c.*64-5_*64-4del	ENSP00000454818.1:n.*64-5_*64-4del
NM_017882.2:c.666-5_666-4del	NP_060352.1:n.666-5_666-4del
XR_931861.1:n.888-5_888-4del
NM_017882.3:c.666-5_666-4del MANE Select	NP_060352.1:n.666-5_666-4del