Canonical Allele Identifier: CA2184878376

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208425_68208429delinsGGTGA , CM000677.2:g.68208425_68208429delinsGGTGA	GRCh38
NC_000015.9:g.68500763_68500767delinsGGTGA , CM000677.1:g.68500763_68500767delinsGGTGA	GRCh37
NC_000015.8:g.66287817_66287821delinsGGTGA	NCBI36
NG_008764.2:g.53783_53787delinsTCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-19_666-15delinsTCACC MANE Select	ENSP00000249806.5:n.666-19_666-15delinsTCACC
ENST00000562767.2:c.84-10801_84-10797delinsTCACC	ENSP00000456336.1:n.84-10801_84-10797delinsTCACC
ENST00000563917.2:n.508-19_508-15delinsTCACC
ENST00000565471.6:c.207-19_207-15delinsTCACC	ENSP00000457384.1:n.207-19_207-15delinsTCACC
ENST00000635747.1:c.*569-19_*569-15delinsTCACC	ENSP00000490627.1:n.*569-19_*569-15delinsTCACC
ENST00000636212.1:c.*336-19_*336-15delinsTCACC	ENSP00000489851.1:n.*336-19_*336-15delinsTCACC
ENST00000636674.1:n.1768-19_1768-15delinsTCACC
ENST00000636964.1:n.2194-19_2194-15delinsTCACC
ENST00000637054.1:c.198+10107_198+10111delinsTCACC	ENSP00000490807.1:n.198+10107_198+10111delinsTCACC
ENST00000637329.1:c.635-19_635-15delinsTCACC
ENST00000637450.1:c.*320-19_*320-15delinsTCACC	ENSP00000490204.1:n.*320-19_*320-15delinsTCACC
ENST00000637494.1:c.378-19_378-15delinsTCACC	ENSP00000490057.1:n.378-19_378-15delinsTCACC
ENST00000637667.1:c.567-19_567-15delinsTCACC	ENSP00000489843.1:n.567-19_567-15delinsTCACC
ENST00000637823.1:c.491-19_491-15delinsTCACC
ENST00000637888.1:c.198+10107_198+10111delinsTCACC	ENSP00000490546.1:n.198+10107_198+10111delinsTCACC
ENST00000638076.1:c.*269-19_*269-15delinsTCACC	ENSP00000490373.1:n.*269-19_*269-15delinsTCACC
ENST00000638144.1:n.309-19_309-15delinsTCACC
ENST00000646164.1:c.39-8748_39-8744delinsTCACC
ENST00000249806.9:c.666-19_666-15delinsTCACC	ENSP00000249806.5:n.666-19_666-15delinsTCACC
ENST00000538696.5:c.762-19_762-15delinsTCACC	ENSP00000445770.1:n.762-19_762-15delinsTCACC
ENST00000562767.1:c.84-10801_84-10797delinsTCACC	ENSP00000456336.1:n.84-10801_84-10797delinsTCACC
ENST00000564752.1:c.*50-19_*50-15delinsTCACC	ENSP00000457822.1:n.*50-19_*50-15delinsTCACC
ENST00000565471.5:c.207-19_207-15delinsTCACC	ENSP00000457384.1:n.207-19_207-15delinsTCACC
ENST00000566347.5:c.477-19_477-15delinsTCACC	ENSP00000457783.1:n.477-19_477-15delinsTCACC
ENST00000567060.5:c.*64-19_*64-15delinsTCACC	ENSP00000454818.1:n.*64-19_*64-15delinsTCACC
NM_017882.2:c.666-19_666-15delinsTCACC	NP_060352.1:n.666-19_666-15delinsTCACC
XR_931861.1:n.888-19_888-15delinsTCACC
NM_017882.3:c.666-19_666-15delinsTCACC MANE Select	NP_060352.1:n.666-19_666-15delinsTCACC