Canonical Allele Identifier: CA2184879554

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209677G= , CM000677.2:g.68209677G=	GRCh38
NC_000015.9:g.68502015G= , CM000677.1:g.68502015G=	GRCh37
NC_000015.8:g.66289069G=	NCBI36
NG_008764.2:g.52535C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.625C= MANE Select	ENSP00000249806.5:p.Pro209=
ENST00000562767.2:c.84-12049C=	ENSP00000456336.1:n.84-12049C=
ENST00000563917.2:n.467C=
ENST00000565471.6:c.166C=	ENSP00000457384.1:p.Pro56=
ENST00000635747.1:c.*528C=	ENSP00000490627.1:n.*528C=
ENST00000636212.1:c.*295C=	ENSP00000489851.1:n.*295C=
ENST00000636314.1:c.*9C=	ENSP00000490295.1:n.*9C=
ENST00000636674.1:n.1727C=
ENST00000636964.1:n.2153C=
ENST00000637054.1:c.198+8859C=	ENSP00000490807.1:n.198+8859C=
ENST00000637329.1:c.594C=
ENST00000637450.1:c.*279C=	ENSP00000490204.1:n.*279C=
ENST00000637494.1:c.337C=	ENSP00000490057.1:p.Pro113=
ENST00000637667.1:c.526C=	ENSP00000489843.1:p.Pro176=
ENST00000637823.1:c.450C=
ENST00000637888.1:c.198+8859C=	ENSP00000490546.1:n.198+8859C=
ENST00000638076.1:c.*228C=	ENSP00000490373.1:n.*228C=
ENST00000638144.1:n.268C=
ENST00000646164.1:c.38+8859C=
ENST00000249806.9:c.625C=	ENSP00000249806.5:p.Pro209=
ENST00000538696.5:c.721C=	ENSP00000445770.1:p.Pro241=
ENST00000562767.1:c.84-12049C=	ENSP00000456336.1:n.84-12049C=
ENST00000563917.1:n.525C=
ENST00000564752.1:c.*9C=	ENSP00000457822.1:n.*9C=
ENST00000565471.5:c.166C=	ENSP00000457384.1:p.Pro56=
ENST00000566347.5:c.436C=	ENSP00000457783.1:p.Pro146=
ENST00000567060.5:c.*23C=	ENSP00000454818.1:n.*23C=
NM_017882.2:c.625C=	NP_060352.1:p.Pro209=
XR_931861.1:n.847C=
NM_017882.3:c.625C= MANE Select	NP_060352.1:p.Pro209=