Canonical Allele Identifier: CA2184878281

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208370A= , CM000677.2:g.68208370A=	GRCh38
NC_000015.9:g.68500708A= , CM000677.1:g.68500708A=	GRCh37
NC_000015.8:g.66287762A=	NCBI36
NG_008764.2:g.53842T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.706T= MANE Select	ENSP00000249806.5:p.Phe236=
ENST00000562767.2:c.84-10742T=	ENSP00000456336.1:n.84-10742T=
ENST00000563917.2:n.548T=
ENST00000565471.6:c.247T=	ENSP00000457384.1:p.Phe83=
ENST00000635747.1:c.*609T=	ENSP00000490627.1:n.*609T=
ENST00000636212.1:c.*376T=	ENSP00000489851.1:n.*376T=
ENST00000636674.1:n.1808T=
ENST00000636964.1:n.2234T=
ENST00000637054.1:c.198+10166T=	ENSP00000490807.1:n.198+10166T=
ENST00000637329.1:c.675T=
ENST00000637450.1:c.*360T=	ENSP00000490204.1:n.*360T=
ENST00000637494.1:c.418T=	ENSP00000490057.1:p.Phe140=
ENST00000637667.1:c.607T=	ENSP00000489843.1:p.Phe203=
ENST00000637823.1:c.531T=
ENST00000637888.1:c.198+10166T=	ENSP00000490546.1:n.198+10166T=
ENST00000638076.1:c.*309T=	ENSP00000490373.1:n.*309T=
ENST00000638144.1:n.349T=
ENST00000646164.1:c.39-8689T=
ENST00000249806.9:c.706T=	ENSP00000249806.5:p.Phe236=
ENST00000538696.5:c.802T=	ENSP00000445770.1:p.Phe268=
ENST00000562767.1:c.84-10742T=	ENSP00000456336.1:n.84-10742T=
ENST00000564752.1:c.*90T=	ENSP00000457822.1:n.*90T=
ENST00000565471.5:c.247T=	ENSP00000457384.1:p.Phe83=
ENST00000566347.5:c.517T=	ENSP00000457783.1:p.Phe173=
ENST00000567060.5:c.*104T=	ENSP00000454818.1:n.*104T=
NM_017882.2:c.706T=	NP_060352.1:p.Phe236=
NM_017882.3:c.706T= MANE Select	NP_060352.1:p.Phe236=