Canonical Allele Identifier: CA2184879746

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209755T= , CM000677.2:g.68209755T=	GRCh38
NC_000015.9:g.68502093T= , CM000677.1:g.68502093T=	GRCh37
NC_000015.8:g.66289147T=	NCBI36
NG_008764.2:g.52457A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.547A= MANE Select	ENSP00000249806.5:p.Ile183=
ENST00000562767.2:c.84-12127A=	ENSP00000456336.1:n.84-12127A=
ENST00000563917.2:n.389A=
ENST00000565471.6:c.88A=	ENSP00000457384.1:p.Ile30=
ENST00000635747.1:c.*450A=	ENSP00000490627.1:n.*450A=
ENST00000636212.1:c.*217A=	ENSP00000489851.1:n.*217A=
ENST00000636314.1:c.243A=	ENSP00000490295.1:p.Thr81=
ENST00000636674.1:n.1649A=
ENST00000636964.1:n.2075A=
ENST00000637054.1:c.198+8781A=	ENSP00000490807.1:n.198+8781A=
ENST00000637223.1:c.*261A=	ENSP00000490010.1:n.*261A=
ENST00000637329.1:c.516A=
ENST00000637450.1:c.*201A=	ENSP00000490204.1:n.*201A=
ENST00000637494.1:c.259A=	ENSP00000490057.1:p.Ile87=
ENST00000637667.1:c.448A=	ENSP00000489843.1:p.Ile150=
ENST00000637823.1:c.372A=
ENST00000637888.1:c.198+8781A=	ENSP00000490546.1:n.198+8781A=
ENST00000638076.1:c.*150A=	ENSP00000490373.1:n.*150A=
ENST00000638144.1:n.190A=
ENST00000646164.1:c.38+8781A=
ENST00000249806.9:c.547A=	ENSP00000249806.5:p.Ile183=
ENST00000538696.5:c.643A=	ENSP00000445770.1:p.Ile215=
ENST00000562767.1:c.84-12127A=	ENSP00000456336.1:n.84-12127A=
ENST00000563917.1:n.447A=
ENST00000564752.1:c.573A=	ENSP00000457822.1:p.Thr191=
ENST00000565471.5:c.88A=	ENSP00000457384.1:p.Ile30=
ENST00000566347.5:c.358A=	ENSP00000457783.1:p.Ile120=
ENST00000567060.5:c.298-35A=	ENSP00000454818.1:n.298-35A=
NM_017882.2:c.547A=	NP_060352.1:p.Ile183=
XR_931861.1:n.769A=
NM_017882.3:c.547A= MANE Select	NP_060352.1:p.Ile183=