Canonical Allele Identifier: CA2804592435

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208525_68208537del , CM000677.2:g.68208525_68208537del	GRCh38
NC_000015.9:g.68500863_68500875del , CM000677.1:g.68500863_68500875del	GRCh37
NC_000015.8:g.66287917_66287929del	NCBI36
NG_008764.2:g.53676_53688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-126_666-114del MANE Select	ENSP00000249806.5:n.666-126_666-114del
ENST00000562767.2:c.84-10908_84-10896del	ENSP00000456336.1:n.84-10908_84-10896del
ENST00000563917.2:n.508-126_508-114del
ENST00000565471.6:c.207-126_207-114del	ENSP00000457384.1:n.207-126_207-114del
ENST00000635747.1:c.*569-126_*569-114del	ENSP00000490627.1:n.*569-126_*569-114del
ENST00000636212.1:c.*336-126_*336-114del	ENSP00000489851.1:n.*336-126_*336-114del
ENST00000636674.1:n.1768-126_1768-114del
ENST00000636964.1:n.2194-126_2194-114del
ENST00000637054.1:c.198+10000_198+10012del	ENSP00000490807.1:n.198+10000_198+10012del
ENST00000637329.1:c.635-126_635-114del
ENST00000637450.1:c.*320-126_*320-114del	ENSP00000490204.1:n.*320-126_*320-114del
ENST00000637494.1:c.378-126_378-114del	ENSP00000490057.1:n.378-126_378-114del
ENST00000637667.1:c.567-126_567-114del	ENSP00000489843.1:n.567-126_567-114del
ENST00000637823.1:c.491-126_491-114del
ENST00000637888.1:c.198+10000_198+10012del	ENSP00000490546.1:n.198+10000_198+10012del
ENST00000638076.1:c.*269-126_*269-114del	ENSP00000490373.1:n.*269-126_*269-114del
ENST00000638144.1:n.309-126_309-114del
ENST00000646164.1:c.39-8855_39-8843del
ENST00000249806.9:c.666-126_666-114del	ENSP00000249806.5:n.666-126_666-114del
ENST00000538696.5:c.762-126_762-114del	ENSP00000445770.1:n.762-126_762-114del
ENST00000562767.1:c.84-10908_84-10896del	ENSP00000456336.1:n.84-10908_84-10896del
ENST00000564752.1:c.*50-126_*50-114del	ENSP00000457822.1:n.*50-126_*50-114del
ENST00000565471.5:c.207-126_207-114del	ENSP00000457384.1:n.207-126_207-114del
ENST00000566347.5:c.477-126_477-114del	ENSP00000457783.1:n.477-126_477-114del
ENST00000567060.5:c.*64-126_*64-114del	ENSP00000454818.1:n.*64-126_*64-114del
NM_017882.2:c.666-126_666-114del	NP_060352.1:n.666-126_666-114del
XR_931861.1:n.888-126_888-114del
NM_017882.3:c.666-126_666-114del MANE Select	NP_060352.1:n.666-126_666-114del