Canonical Allele Identifier: CA2184881219

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211218C= , CM000677.2:g.68211218C=	GRCh38
NC_000015.9:g.68503556C= , CM000677.1:g.68503556C=	GRCh37
NC_000015.8:g.66290610C=	NCBI36
NG_008764.2:g.50994G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.542+45G= MANE Select	ENSP00000249806.5:n.542+45G=
ENST00000562767.2:c.84-13590G=	ENSP00000456336.1:n.84-13590G=
ENST00000563917.2:n.384+45G=
ENST00000565471.6:c.84-1459G=	ENSP00000457384.1:n.84-1459G=
ENST00000635747.1:c.*445+45G=	ENSP00000490627.1:n.*445+45G=
ENST00000636212.1:c.*212+45G=	ENSP00000489851.1:n.*212+45G=
ENST00000636314.1:c.238+45G=	ENSP00000490295.1:n.238+45G=
ENST00000636674.1:n.1644+45G=
ENST00000636964.1:n.2070+45G=
ENST00000637054.1:c.198+7318G=	ENSP00000490807.1:n.198+7318G=
ENST00000637223.1:c.*256+45G=	ENSP00000490010.1:n.*256+45G=
ENST00000637329.1:c.511+45G=
ENST00000637450.1:c.*196+45G=	ENSP00000490204.1:n.*196+45G=
ENST00000637494.1:c.254+45G=	ENSP00000490057.1:n.254+45G=
ENST00000637667.1:c.443+45G=	ENSP00000489843.1:n.443+45G=
ENST00000637823.1:c.367+45G=
ENST00000637888.1:c.198+7318G=	ENSP00000490546.1:n.198+7318G=
ENST00000638076.1:c.*145+45G=	ENSP00000490373.1:n.*145+45G=
ENST00000638144.1:n.185+45G=
ENST00000646164.1:c.38+7318G=
ENST00000249806.9:c.542+45G=	ENSP00000249806.5:n.542+45G=
ENST00000538696.5:c.638+45G=	ENSP00000445770.1:n.638+45G=
ENST00000562767.1:c.84-13590G=	ENSP00000456336.1:n.84-13590G=
ENST00000563917.1:n.442+45G=
ENST00000564752.1:c.568+45G=	ENSP00000457822.1:n.568+45G=
ENST00000565471.5:c.84-1459G=	ENSP00000457384.1:n.84-1459G=
ENST00000566347.5:c.353+45G=	ENSP00000457783.1:n.353+45G=
ENST00000567060.5:c.298-1498G=	ENSP00000454818.1:n.298-1498G=
NM_017882.2:c.542+45G=	NP_060352.1:n.542+45G=
XR_931861.1:n.764+45G=
NM_017882.3:c.542+45G= MANE Select	NP_060352.1:n.542+45G=