Canonical Allele Identifier: CA2184878167

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218203_68218204delinsAC , CM000677.2:g.68218203_68218204delinsAC	GRCh38
NC_000015.9:g.68510541_68510542delinsAC , CM000677.1:g.68510541_68510542delinsAC	GRCh37
NC_000015.8:g.66297595_66297596delinsAC	NCBI36
NG_008764.2:g.44008_44009delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+332_198+333delinsGT MANE Select	ENSP00000249806.5:n.198+332_198+333delinsGT
ENST00000562767.2:c.83+11298_83+11299delinsGT	ENSP00000456336.1:n.83+11298_83+11299delinsGT
ENST00000563917.2:n.41-3816_41-3815delinsGT
ENST00000565471.6:c.84-8445_84-8444delinsGT	ENSP00000457384.1:n.84-8445_84-8444delinsGT
ENST00000569336.2:n.439_440delinsGT
ENST00000635747.1:c.*101+332_*101+333delinsGT	ENSP00000490627.1:n.*101+332_*101+333delinsGT
ENST00000636020.1:n.330+332_330+333delinsGT
ENST00000636212.1:c.198+332_198+333delinsGT	ENSP00000489851.1:n.198+332_198+333delinsGT
ENST00000636314.1:c.84-3816_84-3815delinsGT	ENSP00000490295.1:n.84-3816_84-3815delinsGT
ENST00000637054.1:c.198+332_198+333delinsGT	ENSP00000490807.1:n.198+332_198+333delinsGT
ENST00000637223.1:c.*101+332_*101+333delinsGT	ENSP00000490010.1:n.*101+332_*101+333delinsGT
ENST00000637329.1:c.109+332_109+333delinsGT
ENST00000637450.1:c.84-3816_84-3815delinsGT	ENSP00000490204.1:n.84-3816_84-3815delinsGT
ENST00000637494.1:c.198+332_198+333delinsGT	ENSP00000490057.1:n.198+332_198+333delinsGT
ENST00000637667.1:c.198+332_198+333delinsGT	ENSP00000489843.1:n.198+332_198+333delinsGT
ENST00000637823.1:c.124+332_124+333delinsGT
ENST00000637888.1:c.198+332_198+333delinsGT	ENSP00000490546.1:n.198+332_198+333delinsGT
ENST00000638076.1:c.198+332_198+333delinsGT	ENSP00000490373.1:n.198+332_198+333delinsGT
ENST00000638144.1:n.31-3816_31-3815delinsGT
ENST00000646164.1:c.38+332_38+333delinsGT
ENST00000249806.9:c.198+332_198+333delinsGT	ENSP00000249806.5:n.198+332_198+333delinsGT
ENST00000538696.5:c.294+332_294+333delinsGT	ENSP00000445770.1:n.294+332_294+333delinsGT
ENST00000562767.1:c.83+11298_83+11299delinsGT	ENSP00000456336.1:n.83+11298_83+11299delinsGT
ENST00000564752.1:c.198+332_198+333delinsGT	ENSP00000457822.1:n.198+332_198+333delinsGT
ENST00000564846.1:n.630+332_630+333delinsGT
ENST00000565471.5:c.84-8445_84-8444delinsGT	ENSP00000457384.1:n.84-8445_84-8444delinsGT
ENST00000566347.5:c.198+332_198+333delinsGT	ENSP00000457783.1:n.198+332_198+333delinsGT
ENST00000567060.5:c.198+332_198+333delinsGT	ENSP00000454818.1:n.198+332_198+333delinsGT
ENST00000569336.1:n.353+263_353+264delinsGT
NM_017882.2:c.198+332_198+333delinsGT	NP_060352.1:n.198+332_198+333delinsGT
XR_931861.1:n.301+332_301+333delinsGT
NM_017882.3:c.198+332_198+333delinsGT MANE Select	NP_060352.1:n.198+332_198+333delinsGT