Canonical Allele Identifier: CA2184878013

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208275T= , CM000677.2:g.68208275T=	GRCh38
NC_000015.9:g.68500613T= , CM000677.1:g.68500613T=	GRCh37
NC_000015.8:g.66287667T=	NCBI36
NG_008764.2:g.53937A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.801A= MANE Select	ENSP00000249806.5:p.Ala267=
ENST00000562767.2:c.84-10647A=	ENSP00000456336.1:n.84-10647A=
ENST00000565471.6:c.342A=	ENSP00000457384.1:p.Ala114=
ENST00000635747.1:c.*704A=	ENSP00000490627.1:n.*704A=
ENST00000636212.1:c.*471A=	ENSP00000489851.1:n.*471A=
ENST00000636674.1:n.1903A=
ENST00000636964.1:n.2329A=
ENST00000637054.1:c.198+10261A=	ENSP00000490807.1:n.198+10261A=
ENST00000637329.1:c.770A=
ENST00000637450.1:c.*455A=	ENSP00000490204.1:n.*455A=
ENST00000637494.1:c.513A=	ENSP00000490057.1:p.Ala171=
ENST00000637667.1:c.702A=	ENSP00000489843.1:p.Ala234=
ENST00000637823.1:c.626A=
ENST00000637888.1:c.198+10261A=	ENSP00000490546.1:n.198+10261A=
ENST00000638076.1:c.*404A=	ENSP00000490373.1:n.*404A=
ENST00000638144.1:n.444A=
ENST00000646164.1:c.39-8594A=
ENST00000249806.9:c.801A=	ENSP00000249806.5:p.Ala267=
ENST00000538696.5:c.897A=	ENSP00000445770.1:p.Ala299=
ENST00000562767.1:c.84-10647A=	ENSP00000456336.1:n.84-10647A=
ENST00000565471.5:c.342A=	ENSP00000457384.1:p.Ala114=
ENST00000566347.5:c.612A=	ENSP00000457783.1:p.Ala204=
ENST00000567060.5:c.*199A=	ENSP00000454818.1:n.*199A=
NM_017882.2:c.801A=	NP_060352.1:p.Ala267=
NM_017882.3:c.801A= MANE Select	NP_060352.1:p.Ala267=