Canonical Allele Identifier: CA2184878131

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208321C= , CM000677.2:g.68208321C=	GRCh38
NC_000015.9:g.68500659C= , CM000677.1:g.68500659C=	GRCh37
NC_000015.8:g.66287713C=	NCBI36
NG_008764.2:g.53891G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.755G= MANE Select	ENSP00000249806.5:p.Arg252=
ENST00000562767.2:c.84-10693G=	ENSP00000456336.1:n.84-10693G=
ENST00000565471.6:c.296G=	ENSP00000457384.1:p.Arg99=
ENST00000635747.1:c.*658G=	ENSP00000490627.1:n.*658G=
ENST00000636212.1:c.*425G=	ENSP00000489851.1:n.*425G=
ENST00000636674.1:n.1857G=
ENST00000636964.1:n.2283G=
ENST00000637054.1:c.198+10215G=	ENSP00000490807.1:n.198+10215G=
ENST00000637329.1:c.724G=
ENST00000637450.1:c.*409G=	ENSP00000490204.1:n.*409G=
ENST00000637494.1:c.467G=	ENSP00000490057.1:p.Arg156=
ENST00000637667.1:c.656G=	ENSP00000489843.1:p.Arg219=
ENST00000637823.1:c.580G=
ENST00000637888.1:c.198+10215G=	ENSP00000490546.1:n.198+10215G=
ENST00000638076.1:c.*358G=	ENSP00000490373.1:n.*358G=
ENST00000638144.1:n.398G=
ENST00000646164.1:c.39-8640G=
ENST00000249806.9:c.755G=	ENSP00000249806.5:p.Arg252=
ENST00000538696.5:c.851G=	ENSP00000445770.1:p.Arg284=
ENST00000562767.1:c.84-10693G=	ENSP00000456336.1:n.84-10693G=
ENST00000565471.5:c.296G=	ENSP00000457384.1:p.Arg99=
ENST00000566347.5:c.566G=	ENSP00000457783.1:p.Arg189=
ENST00000567060.5:c.*153G=	ENSP00000454818.1:n.*153G=
NM_017882.2:c.755G=	NP_060352.1:p.Arg252=
NM_017882.3:c.755G= MANE Select	NP_060352.1:p.Arg252=