Canonical Allele Identifier: CA2184878528

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208660_68208661delinsAT , CM000677.2:g.68208660_68208661delinsAT	GRCh38
NC_000015.9:g.68500998_68500999delinsAT , CM000677.1:g.68500998_68500999delinsAT	GRCh37
NC_000015.8:g.66288052_66288053delinsAT	NCBI36
NG_008764.2:g.53551_53552delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666-251_666-250delinsAT MANE Select	ENSP00000249806.5:n.666-251_666-250delinsAT
ENST00000562767.2:c.84-11033_84-11032delinsAT	ENSP00000456336.1:n.84-11033_84-11032delinsAT
ENST00000563917.2:n.508-251_508-250delinsAT
ENST00000565471.6:c.207-251_207-250delinsAT	ENSP00000457384.1:n.207-251_207-250delinsAT
ENST00000635747.1:c.*569-251_*569-250delinsAT	ENSP00000490627.1:n.*569-251_*569-250delinsAT
ENST00000636212.1:c.*336-251_*336-250delinsAT	ENSP00000489851.1:n.*336-251_*336-250delinsAT
ENST00000636674.1:n.1768-251_1768-250delinsAT
ENST00000636964.1:n.2194-251_2194-250delinsAT
ENST00000637054.1:c.198+9875_198+9876delinsAT	ENSP00000490807.1:n.198+9875_198+9876delinsAT
ENST00000637329.1:c.635-251_635-250delinsAT
ENST00000637450.1:c.*320-251_*320-250delinsAT	ENSP00000490204.1:n.*320-251_*320-250delinsAT
ENST00000637494.1:c.378-251_378-250delinsAT	ENSP00000490057.1:n.378-251_378-250delinsAT
ENST00000637667.1:c.567-251_567-250delinsAT	ENSP00000489843.1:n.567-251_567-250delinsAT
ENST00000637823.1:c.491-251_491-250delinsAT
ENST00000637888.1:c.198+9875_198+9876delinsAT	ENSP00000490546.1:n.198+9875_198+9876delinsAT
ENST00000638076.1:c.*269-251_*269-250delinsAT	ENSP00000490373.1:n.*269-251_*269-250delinsAT
ENST00000638144.1:n.309-251_309-250delinsAT
ENST00000646164.1:c.39-8980_39-8979delinsAT
ENST00000249806.9:c.666-251_666-250delinsAT	ENSP00000249806.5:n.666-251_666-250delinsAT
ENST00000538696.5:c.762-251_762-250delinsAT	ENSP00000445770.1:n.762-251_762-250delinsAT
ENST00000562767.1:c.84-11033_84-11032delinsAT	ENSP00000456336.1:n.84-11033_84-11032delinsAT
ENST00000564752.1:c.*50-251_*50-250delinsAT	ENSP00000457822.1:n.*50-251_*50-250delinsAT
ENST00000565471.5:c.207-251_207-250delinsAT	ENSP00000457384.1:n.207-251_207-250delinsAT
ENST00000566347.5:c.477-251_477-250delinsAT	ENSP00000457783.1:n.477-251_477-250delinsAT
ENST00000567060.5:c.*64-251_*64-250delinsAT	ENSP00000454818.1:n.*64-251_*64-250delinsAT
NM_017882.2:c.666-251_666-250delinsAT	NP_060352.1:n.666-251_666-250delinsAT
XR_931861.1:n.888-251_888-250delinsAT
NM_017882.3:c.666-251_666-250delinsAT MANE Select	NP_060352.1:n.666-251_666-250delinsAT