Canonical Allele Identifier: CA2184872877

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211864C= , CM000677.2:g.68211864C=	GRCh38
NC_000015.9:g.68504202C= , CM000677.1:g.68504202C=	GRCh37
NC_000015.8:g.66291256C=	NCBI36
NG_008764.2:g.50348G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.298-1G= MANE Select	ENSP00000249806.5:n.298-1G=
ENST00000562767.2:c.84-14236G=	ENSP00000456336.1:n.84-14236G=
ENST00000563917.2:n.140-1G=
ENST00000565471.6:c.84-2105G=	ENSP00000457384.1:n.84-2105G=
ENST00000635747.1:c.*201-1G=	ENSP00000490627.1:n.*201-1G=
ENST00000636212.1:c.298-123G=	ENSP00000489851.1:n.298-123G=
ENST00000636314.1:c.183-546G=	ENSP00000490295.1:n.183-546G=
ENST00000636674.1:n.1280G=
ENST00000636964.1:n.1469G=
ENST00000637054.1:c.198+6672G=	ENSP00000490807.1:n.198+6672G=
ENST00000637223.1:c.*201-546G=	ENSP00000490010.1:n.*201-546G=
ENST00000637329.1:c.266G=
ENST00000637450.1:c.183-1G=	ENSP00000490204.1:n.183-1G=
ENST00000637494.1:c.199-546G=	ENSP00000490057.1:n.199-546G=
ENST00000637667.1:c.199-1G=	ENSP00000489843.1:n.199-1G=
ENST00000637823.1:c.224-221G=
ENST00000637888.1:c.198+6672G=	ENSP00000490546.1:n.198+6672G=
ENST00000638076.1:c.298-1G=	ENSP00000490373.1:n.298-1G=
ENST00000638144.1:n.130-546G=
ENST00000646164.1:c.38+6672G=
ENST00000249806.9:c.298-1G=	ENSP00000249806.5:n.298-1G=
ENST00000538696.5:c.394-1G=	ENSP00000445770.1:n.394-1G=
ENST00000562767.1:c.84-14236G=	ENSP00000456336.1:n.84-14236G=
ENST00000563917.1:n.79-1G=
ENST00000564752.1:c.298-1G=	ENSP00000457822.1:n.298-1G=
ENST00000565471.5:c.84-2105G=	ENSP00000457384.1:n.84-2105G=
ENST00000566347.5:c.298-546G=	ENSP00000457783.1:n.298-546G=
ENST00000567060.5:c.298-2144G=	ENSP00000454818.1:n.298-2144G=
NM_017882.2:c.298-1G=	NP_060352.1:n.298-1G=
XR_931861.1:n.401-1G=
NM_017882.3:c.298-1G= MANE Select	NP_060352.1:n.298-1G=