Canonical Allele Identifier: CA2184878157

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208328G= , CM000677.2:g.68208328G=	GRCh38
NC_000015.9:g.68500666G= , CM000677.1:g.68500666G=	GRCh37
NC_000015.8:g.66287720G=	NCBI36
NG_008764.2:g.53884C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.748C= MANE Select	ENSP00000249806.5:p.Arg250=
ENST00000562767.2:c.84-10700C=	ENSP00000456336.1:n.84-10700C=
ENST00000565471.6:c.289C=	ENSP00000457384.1:p.Arg97=
ENST00000635747.1:c.*651C=	ENSP00000490627.1:n.*651C=
ENST00000636212.1:c.*418C=	ENSP00000489851.1:n.*418C=
ENST00000636674.1:n.1850C=
ENST00000636964.1:n.2276C=
ENST00000637054.1:c.198+10208C=	ENSP00000490807.1:n.198+10208C=
ENST00000637329.1:c.717C=
ENST00000637450.1:c.*402C=	ENSP00000490204.1:n.*402C=
ENST00000637494.1:c.460C=	ENSP00000490057.1:p.Arg154=
ENST00000637667.1:c.649C=	ENSP00000489843.1:p.Arg217=
ENST00000637823.1:c.573C=
ENST00000637888.1:c.198+10208C=	ENSP00000490546.1:n.198+10208C=
ENST00000638076.1:c.*351C=	ENSP00000490373.1:n.*351C=
ENST00000638144.1:n.391C=
ENST00000646164.1:c.39-8647C=
ENST00000249806.9:c.748C=	ENSP00000249806.5:p.Arg250=
ENST00000538696.5:c.844C=	ENSP00000445770.1:p.Arg282=
ENST00000562767.1:c.84-10700C=	ENSP00000456336.1:n.84-10700C=
ENST00000564752.1:c.*132C=	ENSP00000457822.1:n.*132C=
ENST00000565471.5:c.289C=	ENSP00000457384.1:p.Arg97=
ENST00000566347.5:c.559C=	ENSP00000457783.1:p.Arg187=
ENST00000567060.5:c.*146C=	ENSP00000454818.1:n.*146C=
NM_017882.2:c.748C=	NP_060352.1:p.Arg250=
NM_017882.3:c.748C= MANE Select	NP_060352.1:p.Arg250=