Canonical Allele Identifier: CA2184878037

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208279A= , CM000677.2:g.68208279A=	GRCh38
NC_000015.9:g.68500617A= , CM000677.1:g.68500617A=	GRCh37
NC_000015.8:g.66287671A=	NCBI36
NG_008764.2:g.53933T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.797T= MANE Select	ENSP00000249806.5:p.Phe266=
ENST00000562767.2:c.84-10651T=	ENSP00000456336.1:n.84-10651T=
ENST00000565471.6:c.338T=	ENSP00000457384.1:p.Phe113=
ENST00000635747.1:c.*700T=	ENSP00000490627.1:n.*700T=
ENST00000636212.1:c.*467T=	ENSP00000489851.1:n.*467T=
ENST00000636674.1:n.1899T=
ENST00000636964.1:n.2325T=
ENST00000637054.1:c.198+10257T=	ENSP00000490807.1:n.198+10257T=
ENST00000637329.1:c.766T=
ENST00000637450.1:c.*451T=	ENSP00000490204.1:n.*451T=
ENST00000637494.1:c.509T=	ENSP00000490057.1:p.Phe170=
ENST00000637667.1:c.698T=	ENSP00000489843.1:p.Phe233=
ENST00000637823.1:c.622T=
ENST00000637888.1:c.198+10257T=	ENSP00000490546.1:n.198+10257T=
ENST00000638076.1:c.*400T=	ENSP00000490373.1:n.*400T=
ENST00000638144.1:n.440T=
ENST00000646164.1:c.39-8598T=
ENST00000249806.9:c.797T=	ENSP00000249806.5:p.Phe266=
ENST00000538696.5:c.893T=	ENSP00000445770.1:p.Phe298=
ENST00000562767.1:c.84-10651T=	ENSP00000456336.1:n.84-10651T=
ENST00000565471.5:c.338T=	ENSP00000457384.1:p.Phe113=
ENST00000566347.5:c.608T=	ENSP00000457783.1:p.Phe203=
ENST00000567060.5:c.*195T=	ENSP00000454818.1:n.*195T=
NM_017882.2:c.797T=	NP_060352.1:p.Phe266=
NM_017882.3:c.797T= MANE Select	NP_060352.1:p.Phe266=