Canonical Allele Identifier: CA2184872851

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211854G= , CM000677.2:g.68211854G=	GRCh38
NC_000015.9:g.68504192G= , CM000677.1:g.68504192G=	GRCh37
NC_000015.8:g.66291246G=	NCBI36
NG_008764.2:g.50358C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.307C= MANE Select	ENSP00000249806.5:p.Arg103=
ENST00000562767.2:c.84-14226C=	ENSP00000456336.1:n.84-14226C=
ENST00000563917.2:n.149C=
ENST00000565471.6:c.84-2095C=	ENSP00000457384.1:n.84-2095C=
ENST00000635747.1:c.*210C=	ENSP00000490627.1:n.*210C=
ENST00000636212.1:c.298-113C=	ENSP00000489851.1:n.298-113C=
ENST00000636314.1:c.183-536C=	ENSP00000490295.1:n.183-536C=
ENST00000636674.1:n.1290C=
ENST00000636964.1:n.1479C=
ENST00000637054.1:c.198+6682C=	ENSP00000490807.1:n.198+6682C=
ENST00000637223.1:c.*201-536C=	ENSP00000490010.1:n.*201-536C=
ENST00000637329.1:c.276C=
ENST00000637450.1:c.192C=	ENSP00000490204.1:p.Ser64=
ENST00000637494.1:c.199-536C=	ENSP00000490057.1:n.199-536C=
ENST00000637667.1:c.208C=	ENSP00000489843.1:p.Arg70=
ENST00000637823.1:c.224-211C=
ENST00000637888.1:c.198+6682C=	ENSP00000490546.1:n.198+6682C=
ENST00000638076.1:c.307C=	ENSP00000490373.1:p.Arg103=
ENST00000638144.1:n.130-536C=
ENST00000646164.1:c.38+6682C=
ENST00000249806.9:c.307C=	ENSP00000249806.5:p.Arg103=
ENST00000538696.5:c.403C=	ENSP00000445770.1:p.Arg135=
ENST00000562767.1:c.84-14226C=	ENSP00000456336.1:n.84-14226C=
ENST00000563917.1:n.88C=
ENST00000564752.1:c.307C=	ENSP00000457822.1:p.Arg103=
ENST00000565471.5:c.84-2095C=	ENSP00000457384.1:n.84-2095C=
ENST00000566347.5:c.298-536C=	ENSP00000457783.1:n.298-536C=
ENST00000567060.5:c.298-2134C=	ENSP00000454818.1:n.298-2134C=
NM_017882.2:c.307C=	NP_060352.1:p.Arg103=
XR_931861.1:n.410C=
NM_017882.3:c.307C= MANE Select	NP_060352.1:p.Arg103=