Canonical Allele Identifier: CA2184878127

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208319G= , CM000677.2:g.68208319G=	GRCh38
NC_000015.9:g.68500657G= , CM000677.1:g.68500657G=	GRCh37
NC_000015.8:g.66287711G=	NCBI36
NG_008764.2:g.53893C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.757C= MANE Select	ENSP00000249806.5:p.Leu253=
ENST00000562767.2:c.84-10691C=	ENSP00000456336.1:n.84-10691C=
ENST00000565471.6:c.298C=	ENSP00000457384.1:p.Leu100=
ENST00000635747.1:c.*660C=	ENSP00000490627.1:n.*660C=
ENST00000636212.1:c.*427C=	ENSP00000489851.1:n.*427C=
ENST00000636674.1:n.1859C=
ENST00000636964.1:n.2285C=
ENST00000637054.1:c.198+10217C=	ENSP00000490807.1:n.198+10217C=
ENST00000637329.1:c.726C=
ENST00000637450.1:c.*411C=	ENSP00000490204.1:n.*411C=
ENST00000637494.1:c.469C=	ENSP00000490057.1:p.Leu157=
ENST00000637667.1:c.658C=	ENSP00000489843.1:p.Leu220=
ENST00000637823.1:c.582C=
ENST00000637888.1:c.198+10217C=	ENSP00000490546.1:n.198+10217C=
ENST00000638076.1:c.*360C=	ENSP00000490373.1:n.*360C=
ENST00000638144.1:n.400C=
ENST00000646164.1:c.39-8638C=
ENST00000249806.9:c.757C=	ENSP00000249806.5:p.Leu253=
ENST00000538696.5:c.853C=	ENSP00000445770.1:p.Leu285=
ENST00000562767.1:c.84-10691C=	ENSP00000456336.1:n.84-10691C=
ENST00000565471.5:c.298C=	ENSP00000457384.1:p.Leu100=
ENST00000566347.5:c.568C=	ENSP00000457783.1:p.Leu190=
ENST00000567060.5:c.*155C=	ENSP00000454818.1:n.*155C=
NM_017882.2:c.757C=	NP_060352.1:p.Leu253=
NM_017882.3:c.757C= MANE Select	NP_060352.1:p.Leu253=