Canonical Allele Identifier: CA2184872813

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211845G= , CM000677.2:g.68211845G=	GRCh38
NC_000015.9:g.68504183G= , CM000677.1:g.68504183G=	GRCh37
NC_000015.8:g.66291237G=	NCBI36
NG_008764.2:g.50367C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.316C= MANE Select	ENSP00000249806.5:p.Arg106=
ENST00000562767.2:c.84-14217C=	ENSP00000456336.1:n.84-14217C=
ENST00000563917.2:n.158C=
ENST00000565471.6:c.84-2086C=	ENSP00000457384.1:n.84-2086C=
ENST00000635747.1:c.*219C=	ENSP00000490627.1:n.*219C=
ENST00000636212.1:c.298-104C=	ENSP00000489851.1:n.298-104C=
ENST00000636314.1:c.183-527C=	ENSP00000490295.1:n.183-527C=
ENST00000636674.1:n.1299C=
ENST00000636964.1:n.1488C=
ENST00000637054.1:c.198+6691C=	ENSP00000490807.1:n.198+6691C=
ENST00000637223.1:c.*201-527C=	ENSP00000490010.1:n.*201-527C=
ENST00000637329.1:c.285C=
ENST00000637450.1:c.201C=	ENSP00000490204.1:p.Pro67=
ENST00000637494.1:c.199-527C=	ENSP00000490057.1:n.199-527C=
ENST00000637667.1:c.217C=	ENSP00000489843.1:p.Arg73=
ENST00000637823.1:c.224-202C=
ENST00000637888.1:c.198+6691C=	ENSP00000490546.1:n.198+6691C=
ENST00000638076.1:c.316C=	ENSP00000490373.1:p.Arg106=
ENST00000638144.1:n.130-527C=
ENST00000646164.1:c.38+6691C=
ENST00000249806.9:c.316C=	ENSP00000249806.5:p.Arg106=
ENST00000538696.5:c.412C=	ENSP00000445770.1:p.Arg138=
ENST00000562767.1:c.84-14217C=	ENSP00000456336.1:n.84-14217C=
ENST00000563917.1:n.97C=
ENST00000564752.1:c.316C=	ENSP00000457822.1:p.Arg106=
ENST00000565471.5:c.84-2086C=	ENSP00000457384.1:n.84-2086C=
ENST00000566347.5:c.298-527C=	ENSP00000457783.1:n.298-527C=
ENST00000567060.5:c.298-2125C=	ENSP00000454818.1:n.298-2125C=
NM_017882.2:c.316C=	NP_060352.1:p.Arg106=
XR_931861.1:n.419C=
NM_017882.3:c.316C= MANE Select	NP_060352.1:p.Arg106=