Canonical Allele Identifier: CA2184872992

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211958G= , CM000677.2:g.68211958G=	GRCh38
NC_000015.9:g.68504296G= , CM000677.1:g.68504296G=	GRCh37
NC_000015.8:g.66291350G=	NCBI36
NG_008764.2:g.50254C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-95C= MANE Select	ENSP00000249806.5:n.298-95C=
ENST00000562767.2:c.84-14330C=	ENSP00000456336.1:n.84-14330C=
ENST00000563917.2:n.140-95C=
ENST00000565471.6:c.84-2199C=	ENSP00000457384.1:n.84-2199C=
ENST00000635747.1:c.*201-95C=	ENSP00000490627.1:n.*201-95C=
ENST00000636212.1:c.298-217C=	ENSP00000489851.1:n.298-217C=
ENST00000636314.1:c.183-640C=	ENSP00000490295.1:n.183-640C=
ENST00000636674.1:n.1186C=
ENST00000636964.1:n.1375C=
ENST00000637054.1:c.198+6578C=	ENSP00000490807.1:n.198+6578C=
ENST00000637223.1:c.*201-640C=	ENSP00000490010.1:n.*201-640C=
ENST00000637329.1:c.209-37C=
ENST00000637450.1:c.183-95C=	ENSP00000490204.1:n.183-95C=
ENST00000637494.1:c.199-640C=	ENSP00000490057.1:n.199-640C=
ENST00000637667.1:c.199-95C=	ENSP00000489843.1:n.199-95C=
ENST00000637823.1:c.224-315C=
ENST00000637888.1:c.198+6578C=	ENSP00000490546.1:n.198+6578C=
ENST00000638076.1:c.298-95C=	ENSP00000490373.1:n.298-95C=
ENST00000638144.1:n.130-640C=
ENST00000646164.1:c.38+6578C=
ENST00000249806.9:c.298-95C=	ENSP00000249806.5:n.298-95C=
ENST00000538696.5:c.394-95C=	ENSP00000445770.1:n.394-95C=
ENST00000562767.1:c.84-14330C=	ENSP00000456336.1:n.84-14330C=
ENST00000563917.1:n.79-95C=
ENST00000564752.1:c.298-95C=	ENSP00000457822.1:n.298-95C=
ENST00000565471.5:c.84-2199C=	ENSP00000457384.1:n.84-2199C=
ENST00000566347.5:c.298-640C=	ENSP00000457783.1:n.298-640C=
ENST00000567060.5:c.298-2238C=	ENSP00000454818.1:n.298-2238C=
NM_017882.2:c.298-95C=	NP_060352.1:n.298-95C=
XR_931861.1:n.401-95C=
NM_017882.3:c.298-95C= MANE Select	NP_060352.1:n.298-95C=