Canonical Allele Identifier: CA2184878027

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208278G= , CM000677.2:g.68208278G=	GRCh38
NC_000015.9:g.68500616G= , CM000677.1:g.68500616G=	GRCh37
NC_000015.8:g.66287670G=	NCBI36
NG_008764.2:g.53934C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.798C= MANE Select	ENSP00000249806.5:p.Phe266=
ENST00000562767.2:c.84-10650C=	ENSP00000456336.1:n.84-10650C=
ENST00000565471.6:c.339C=	ENSP00000457384.1:p.Phe113=
ENST00000635747.1:c.*701C=	ENSP00000490627.1:n.*701C=
ENST00000636212.1:c.*468C=	ENSP00000489851.1:n.*468C=
ENST00000636674.1:n.1900C=
ENST00000636964.1:n.2326C=
ENST00000637054.1:c.198+10258C=	ENSP00000490807.1:n.198+10258C=
ENST00000637329.1:c.767C=
ENST00000637450.1:c.*452C=	ENSP00000490204.1:n.*452C=
ENST00000637494.1:c.510C=	ENSP00000490057.1:p.Phe170=
ENST00000637667.1:c.699C=	ENSP00000489843.1:p.Phe233=
ENST00000637823.1:c.623C=
ENST00000637888.1:c.198+10258C=	ENSP00000490546.1:n.198+10258C=
ENST00000638076.1:c.*401C=	ENSP00000490373.1:n.*401C=
ENST00000638144.1:n.441C=
ENST00000646164.1:c.39-8597C=
ENST00000249806.9:c.798C=	ENSP00000249806.5:p.Phe266=
ENST00000538696.5:c.894C=	ENSP00000445770.1:p.Phe298=
ENST00000562767.1:c.84-10650C=	ENSP00000456336.1:n.84-10650C=
ENST00000565471.5:c.339C=	ENSP00000457384.1:p.Phe113=
ENST00000566347.5:c.609C=	ENSP00000457783.1:p.Phe203=
ENST00000567060.5:c.*196C=	ENSP00000454818.1:n.*196C=
NM_017882.2:c.798C=	NP_060352.1:p.Phe266=
NM_017882.3:c.798C= MANE Select	NP_060352.1:p.Phe266=