Canonical Allele Identifier: CA2184877819

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208184C= , CM000677.2:g.68208184C=	GRCh38
NC_000015.9:g.68500522C= , CM000677.1:g.68500522C=	GRCh37
NC_000015.8:g.66287576C=	NCBI36
NG_008764.2:g.54028G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.892G= MANE Select	ENSP00000249806.5:p.Glu298=
ENST00000562767.2:c.84-10556G=	ENSP00000456336.1:n.84-10556G=
ENST00000565471.6:c.433G=	ENSP00000457384.1:p.Glu145=
ENST00000635747.1:c.*795G=	ENSP00000490627.1:n.*795G=
ENST00000636212.1:c.*562G=	ENSP00000489851.1:n.*562G=
ENST00000636674.1:n.1994G=
ENST00000636964.1:n.2420G=
ENST00000637054.1:c.198+10352G=	ENSP00000490807.1:n.198+10352G=
ENST00000637329.1:c.861G=
ENST00000637494.1:c.604G=	ENSP00000490057.1:p.Glu202=
ENST00000637823.1:c.717G=
ENST00000637888.1:c.198+10352G=	ENSP00000490546.1:n.198+10352G=
ENST00000638076.1:c.*495G=	ENSP00000490373.1:n.*495G=
ENST00000638144.1:n.535G=
ENST00000646164.1:c.39-8503G=
ENST00000249806.9:c.892G=	ENSP00000249806.5:p.Glu298=
ENST00000538696.5:c.988G=	ENSP00000445770.1:p.Glu330=
ENST00000562767.1:c.84-10556G=	ENSP00000456336.1:n.84-10556G=
ENST00000565471.5:c.433G=	ENSP00000457384.1:p.Glu145=
ENST00000566347.5:c.703G=	ENSP00000457783.1:p.Glu235=
ENST00000567060.5:c.*290G=	ENSP00000454818.1:n.*290G=
NM_017882.2:c.892G=	NP_060352.1:p.Glu298=
NM_017882.3:c.892G= MANE Select	NP_060352.1:p.Glu298=