Canonical Allele Identifier: CA2184877995

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208259C= , CM000677.2:g.68208259C=	GRCh38
NC_000015.9:g.68500597C= , CM000677.1:g.68500597C=	GRCh37
NC_000015.8:g.66287651C=	NCBI36
NG_008764.2:g.53953G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.817G= MANE Select	ENSP00000249806.5:p.Val273=
ENST00000562767.2:c.84-10631G=	ENSP00000456336.1:n.84-10631G=
ENST00000565471.6:c.358G=	ENSP00000457384.1:p.Val120=
ENST00000635747.1:c.*720G=	ENSP00000490627.1:n.*720G=
ENST00000636212.1:c.*487G=	ENSP00000489851.1:n.*487G=
ENST00000636674.1:n.1919G=
ENST00000636964.1:n.2345G=
ENST00000637054.1:c.198+10277G=	ENSP00000490807.1:n.198+10277G=
ENST00000637329.1:c.786G=
ENST00000637450.1:c.*471G=	ENSP00000490204.1:n.*471G=
ENST00000637494.1:c.529G=	ENSP00000490057.1:p.Val177=
ENST00000637667.1:c.718G=	ENSP00000489843.1:p.Val240=
ENST00000637823.1:c.642G=
ENST00000637888.1:c.198+10277G=	ENSP00000490546.1:n.198+10277G=
ENST00000638076.1:c.*420G=	ENSP00000490373.1:n.*420G=
ENST00000638144.1:n.460G=
ENST00000646164.1:c.39-8578G=
ENST00000249806.9:c.817G=	ENSP00000249806.5:p.Val273=
ENST00000538696.5:c.913G=	ENSP00000445770.1:p.Val305=
ENST00000562767.1:c.84-10631G=	ENSP00000456336.1:n.84-10631G=
ENST00000565471.5:c.358G=	ENSP00000457384.1:p.Val120=
ENST00000566347.5:c.628G=	ENSP00000457783.1:p.Val210=
ENST00000567060.5:c.*215G=	ENSP00000454818.1:n.*215G=
NM_017882.2:c.817G=	NP_060352.1:p.Val273=
NM_017882.3:c.817G= MANE Select	NP_060352.1:p.Val273=