Canonical Allele Identifier: CA2629164168

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208532-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208534_68208535del , CM000677.2:g.68208534_68208535del	GRCh38
NC_000015.9:g.68500872_68500873del , CM000677.1:g.68500872_68500873del	GRCh37
NC_000015.8:g.66287926_66287927del	NCBI36
NG_008764.2:g.53678_53679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-124_666-123del MANE Select	ENSP00000249806.5:n.666-124_666-123del
ENST00000562767.2:c.84-10906_84-10905del	ENSP00000456336.1:n.84-10906_84-10905del
ENST00000563917.2:n.508-124_508-123del
ENST00000565471.6:c.207-124_207-123del	ENSP00000457384.1:n.207-124_207-123del
ENST00000635747.1:c.*569-124_*569-123del	ENSP00000490627.1:n.*569-124_*569-123del
ENST00000636212.1:c.*336-124_*336-123del	ENSP00000489851.1:n.*336-124_*336-123del
ENST00000636674.1:n.1768-124_1768-123del
ENST00000636964.1:n.2194-124_2194-123del
ENST00000637054.1:c.198+10002_198+10003del	ENSP00000490807.1:n.198+10002_198+10003del
ENST00000637329.1:c.635-124_635-123del
ENST00000637450.1:c.*320-124_*320-123del	ENSP00000490204.1:n.*320-124_*320-123del
ENST00000637494.1:c.378-124_378-123del	ENSP00000490057.1:n.378-124_378-123del
ENST00000637667.1:c.567-124_567-123del	ENSP00000489843.1:n.567-124_567-123del
ENST00000637823.1:c.491-124_491-123del
ENST00000637888.1:c.198+10002_198+10003del	ENSP00000490546.1:n.198+10002_198+10003del
ENST00000638076.1:c.*269-124_*269-123del	ENSP00000490373.1:n.*269-124_*269-123del
ENST00000638144.1:n.309-124_309-123del
ENST00000646164.1:c.39-8853_39-8852del
ENST00000249806.9:c.666-124_666-123del	ENSP00000249806.5:n.666-124_666-123del
ENST00000538696.5:c.762-124_762-123del	ENSP00000445770.1:n.762-124_762-123del
ENST00000562767.1:c.84-10906_84-10905del	ENSP00000456336.1:n.84-10906_84-10905del
ENST00000564752.1:c.*50-124_*50-123del	ENSP00000457822.1:n.*50-124_*50-123del
ENST00000565471.5:c.207-124_207-123del	ENSP00000457384.1:n.207-124_207-123del
ENST00000566347.5:c.477-124_477-123del	ENSP00000457783.1:n.477-124_477-123del
ENST00000567060.5:c.*64-124_*64-123del	ENSP00000454818.1:n.*64-124_*64-123del
NM_017882.2:c.666-124_666-123del	NP_060352.1:n.666-124_666-123del
XR_931861.1:n.888-124_888-123del
NM_017882.3:c.666-124_666-123del MANE Select	NP_060352.1:n.666-124_666-123del