Canonical Allele Identifier: CA2184878104

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208308G= , CM000677.2:g.68208308G=	GRCh38
NC_000015.9:g.68500646G= , CM000677.1:g.68500646G=	GRCh37
NC_000015.8:g.66287700G=	NCBI36
NG_008764.2:g.53904C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.768C= MANE Select	ENSP00000249806.5:p.Asp256=
ENST00000562767.2:c.84-10680C=	ENSP00000456336.1:n.84-10680C=
ENST00000565471.6:c.309C=	ENSP00000457384.1:p.Asp103=
ENST00000635747.1:c.*671C=	ENSP00000490627.1:n.*671C=
ENST00000636212.1:c.*438C=	ENSP00000489851.1:n.*438C=
ENST00000636674.1:n.1870C=
ENST00000636964.1:n.2296C=
ENST00000637054.1:c.198+10228C=	ENSP00000490807.1:n.198+10228C=
ENST00000637329.1:c.737C=
ENST00000637450.1:c.*422C=	ENSP00000490204.1:n.*422C=
ENST00000637494.1:c.480C=	ENSP00000490057.1:p.Asp160=
ENST00000637667.1:c.669C=	ENSP00000489843.1:p.Asp223=
ENST00000637823.1:c.593C=
ENST00000637888.1:c.198+10228C=	ENSP00000490546.1:n.198+10228C=
ENST00000638076.1:c.*371C=	ENSP00000490373.1:n.*371C=
ENST00000638144.1:n.411C=
ENST00000646164.1:c.39-8627C=
ENST00000249806.9:c.768C=	ENSP00000249806.5:p.Asp256=
ENST00000538696.5:c.864C=	ENSP00000445770.1:p.Asp288=
ENST00000562767.1:c.84-10680C=	ENSP00000456336.1:n.84-10680C=
ENST00000565471.5:c.309C=	ENSP00000457384.1:p.Asp103=
ENST00000566347.5:c.579C=	ENSP00000457783.1:p.Asp193=
ENST00000567060.5:c.*166C=	ENSP00000454818.1:n.*166C=
NM_017882.2:c.768C=	NP_060352.1:p.Asp256=
NM_017882.3:c.768C= MANE Select	NP_060352.1:p.Asp256=