Canonical Allele Identifier: CA2184878113

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208311C= , CM000677.2:g.68208311C=	GRCh38
NC_000015.9:g.68500649C= , CM000677.1:g.68500649C=	GRCh37
NC_000015.8:g.66287703C=	NCBI36
NG_008764.2:g.53901G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.765G= MANE Select	ENSP00000249806.5:p.Leu255=
ENST00000562767.2:c.84-10683G=	ENSP00000456336.1:n.84-10683G=
ENST00000565471.6:c.306G=	ENSP00000457384.1:p.Leu102=
ENST00000635747.1:c.*668G=	ENSP00000490627.1:n.*668G=
ENST00000636212.1:c.*435G=	ENSP00000489851.1:n.*435G=
ENST00000636674.1:n.1867G=
ENST00000636964.1:n.2293G=
ENST00000637054.1:c.198+10225G=	ENSP00000490807.1:n.198+10225G=
ENST00000637329.1:c.734G=
ENST00000637450.1:c.*419G=	ENSP00000490204.1:n.*419G=
ENST00000637494.1:c.477G=	ENSP00000490057.1:p.Leu159=
ENST00000637667.1:c.666G=	ENSP00000489843.1:p.Leu222=
ENST00000637823.1:c.590G=
ENST00000637888.1:c.198+10225G=	ENSP00000490546.1:n.198+10225G=
ENST00000638076.1:c.*368G=	ENSP00000490373.1:n.*368G=
ENST00000638144.1:n.408G=
ENST00000646164.1:c.39-8630G=
ENST00000249806.9:c.765G=	ENSP00000249806.5:p.Leu255=
ENST00000538696.5:c.861G=	ENSP00000445770.1:p.Leu287=
ENST00000562767.1:c.84-10683G=	ENSP00000456336.1:n.84-10683G=
ENST00000565471.5:c.306G=	ENSP00000457384.1:p.Leu102=
ENST00000566347.5:c.576G=	ENSP00000457783.1:p.Leu192=
ENST00000567060.5:c.*163G=	ENSP00000454818.1:n.*163G=
NM_017882.2:c.765G=	NP_060352.1:p.Leu255=
NM_017882.3:c.765G= MANE Select	NP_060352.1:p.Leu255=