Canonical Allele Identifier: CA2184878110

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218125_68218128delinsAAAT , CM000677.2:g.68218125_68218128delinsAAAT	GRCh38
NC_000015.9:g.68510463_68510466delinsAAAT , CM000677.1:g.68510463_68510466delinsAAAT	GRCh37
NC_000015.8:g.66297517_66297520delinsAAAT	NCBI36
NG_008764.2:g.44084_44087delinsATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+408_198+411delinsATTT MANE Select	ENSP00000249806.5:n.198+408_198+411delinsATTT
ENST00000562767.2:c.83+11374_83+11377delinsATTT	ENSP00000456336.1:n.83+11374_83+11377delinsATTT
ENST00000563917.2:n.41-3740_41-3737delinsATTT
ENST00000565471.6:c.84-8369_84-8366delinsATTT	ENSP00000457384.1:n.84-8369_84-8366delinsATTT
ENST00000569336.2:n.515_518delinsATTT
ENST00000635747.1:c.*101+408_*101+411delinsATTT	ENSP00000490627.1:n.*101+408_*101+411delinsATTT
ENST00000636020.1:n.330+408_330+411delinsATTT
ENST00000636212.1:c.198+408_198+411delinsATTT	ENSP00000489851.1:n.198+408_198+411delinsATTT
ENST00000636314.1:c.84-3740_84-3737delinsATTT	ENSP00000490295.1:n.84-3740_84-3737delinsATTT
ENST00000637054.1:c.198+408_198+411delinsATTT	ENSP00000490807.1:n.198+408_198+411delinsATTT
ENST00000637223.1:c.*101+408_*101+411delinsATTT	ENSP00000490010.1:n.*101+408_*101+411delinsATTT
ENST00000637329.1:c.109+408_109+411delinsATTT
ENST00000637450.1:c.84-3740_84-3737delinsATTT	ENSP00000490204.1:n.84-3740_84-3737delinsATTT
ENST00000637494.1:c.198+408_198+411delinsATTT	ENSP00000490057.1:n.198+408_198+411delinsATTT
ENST00000637667.1:c.198+408_198+411delinsATTT	ENSP00000489843.1:n.198+408_198+411delinsATTT
ENST00000637823.1:c.124+408_124+411delinsATTT
ENST00000637888.1:c.198+408_198+411delinsATTT	ENSP00000490546.1:n.198+408_198+411delinsATTT
ENST00000638076.1:c.198+408_198+411delinsATTT	ENSP00000490373.1:n.198+408_198+411delinsATTT
ENST00000638144.1:n.31-3740_31-3737delinsATTT
ENST00000646164.1:c.38+408_38+411delinsATTT
ENST00000249806.9:c.198+408_198+411delinsATTT	ENSP00000249806.5:n.198+408_198+411delinsATTT
ENST00000538696.5:c.294+408_294+411delinsATTT	ENSP00000445770.1:n.294+408_294+411delinsATTT
ENST00000562767.1:c.83+11374_83+11377delinsATTT	ENSP00000456336.1:n.83+11374_83+11377delinsATTT
ENST00000564752.1:c.198+408_198+411delinsATTT	ENSP00000457822.1:n.198+408_198+411delinsATTT
ENST00000564846.1:n.630+408_630+411delinsATTT
ENST00000565471.5:c.84-8369_84-8366delinsATTT	ENSP00000457384.1:n.84-8369_84-8366delinsATTT
ENST00000566347.5:c.198+408_198+411delinsATTT	ENSP00000457783.1:n.198+408_198+411delinsATTT
ENST00000567060.5:c.198+408_198+411delinsATTT	ENSP00000454818.1:n.198+408_198+411delinsATTT
ENST00000569336.1:n.353+339_353+342delinsATTT
NM_017882.2:c.198+408_198+411delinsATTT	NP_060352.1:n.198+408_198+411delinsATTT
XR_931861.1:n.301+408_301+411delinsATTT
NM_017882.3:c.198+408_198+411delinsATTT MANE Select	NP_060352.1:n.198+408_198+411delinsATTT