Canonical Allele Identifier: CA2184872970

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211934_68211936delinsCCT , CM000677.2:g.68211934_68211936delinsCCT	GRCh38
NC_000015.9:g.68504272_68504274delinsCCT , CM000677.1:g.68504272_68504274delinsCCT	GRCh37
NC_000015.8:g.66291326_66291328delinsCCT	NCBI36
NG_008764.2:g.50276_50278delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-73_298-71delinsAGG MANE Select	ENSP00000249806.5:n.298-73_298-71delinsAGG
ENST00000562767.2:c.84-14308_84-14306delinsAGG	ENSP00000456336.1:n.84-14308_84-14306delinsAGG
ENST00000563917.2:n.140-73_140-71delinsAGG
ENST00000565471.6:c.84-2177_84-2175delinsAGG	ENSP00000457384.1:n.84-2177_84-2175delinsAGG
ENST00000635747.1:c.*201-73_*201-71delinsAGG	ENSP00000490627.1:n.*201-73_*201-71delinsAGG
ENST00000636212.1:c.298-195_298-193delinsAGG	ENSP00000489851.1:n.298-195_298-193delinsAGG
ENST00000636314.1:c.183-618_183-616delinsAGG	ENSP00000490295.1:n.183-618_183-616delinsAGG
ENST00000636674.1:n.1208_1210delinsAGG
ENST00000636964.1:n.1397_1399delinsAGG
ENST00000637054.1:c.198+6600_198+6602delinsAGG	ENSP00000490807.1:n.198+6600_198+6602delinsAGG
ENST00000637223.1:c.*201-618_*201-616delinsAGG	ENSP00000490010.1:n.*201-618_*201-616delinsAGG
ENST00000637329.1:c.209-15_209-13delinsAGG
ENST00000637450.1:c.183-73_183-71delinsAGG	ENSP00000490204.1:n.183-73_183-71delinsAGG
ENST00000637494.1:c.199-618_199-616delinsAGG	ENSP00000490057.1:n.199-618_199-616delinsAGG
ENST00000637667.1:c.199-73_199-71delinsAGG	ENSP00000489843.1:n.199-73_199-71delinsAGG
ENST00000637823.1:c.224-293_224-291delinsAGG
ENST00000637888.1:c.198+6600_198+6602delinsAGG	ENSP00000490546.1:n.198+6600_198+6602delinsAGG
ENST00000638076.1:c.298-73_298-71delinsAGG	ENSP00000490373.1:n.298-73_298-71delinsAGG
ENST00000638144.1:n.130-618_130-616delinsAGG
ENST00000646164.1:c.38+6600_38+6602delinsAGG
ENST00000249806.9:c.298-73_298-71delinsAGG	ENSP00000249806.5:n.298-73_298-71delinsAGG
ENST00000538696.5:c.394-73_394-71delinsAGG	ENSP00000445770.1:n.394-73_394-71delinsAGG
ENST00000562767.1:c.84-14308_84-14306delinsAGG	ENSP00000456336.1:n.84-14308_84-14306delinsAGG
ENST00000563917.1:n.79-73_79-71delinsAGG
ENST00000564752.1:c.298-73_298-71delinsAGG	ENSP00000457822.1:n.298-73_298-71delinsAGG
ENST00000565471.5:c.84-2177_84-2175delinsAGG	ENSP00000457384.1:n.84-2177_84-2175delinsAGG
ENST00000566347.5:c.298-618_298-616delinsAGG	ENSP00000457783.1:n.298-618_298-616delinsAGG
ENST00000567060.5:c.298-2216_298-2214delinsAGG	ENSP00000454818.1:n.298-2216_298-2214delinsAGG
NM_017882.2:c.298-73_298-71delinsAGG	NP_060352.1:n.298-73_298-71delinsAGG
XR_931861.1:n.401-73_401-71delinsAGG
NM_017882.3:c.298-73_298-71delinsAGG MANE Select	NP_060352.1:n.298-73_298-71delinsAGG