Canonical Allele Identifier: CA2184878067

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208296G= , CM000677.2:g.68208296G=	GRCh38
NC_000015.9:g.68500634G= , CM000677.1:g.68500634G=	GRCh37
NC_000015.8:g.66287688G=	NCBI36
NG_008764.2:g.53916C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.780C= MANE Select	ENSP00000249806.5:p.Leu260=
ENST00000562767.2:c.84-10668C=	ENSP00000456336.1:n.84-10668C=
ENST00000565471.6:c.321C=	ENSP00000457384.1:p.Leu107=
ENST00000635747.1:c.*683C=	ENSP00000490627.1:n.*683C=
ENST00000636212.1:c.*450C=	ENSP00000489851.1:n.*450C=
ENST00000636674.1:n.1882C=
ENST00000636964.1:n.2308C=
ENST00000637054.1:c.198+10240C=	ENSP00000490807.1:n.198+10240C=
ENST00000637329.1:c.749C=
ENST00000637450.1:c.*434C=	ENSP00000490204.1:n.*434C=
ENST00000637494.1:c.492C=	ENSP00000490057.1:p.Leu164=
ENST00000637667.1:c.681C=	ENSP00000489843.1:p.Leu227=
ENST00000637823.1:c.605C=
ENST00000637888.1:c.198+10240C=	ENSP00000490546.1:n.198+10240C=
ENST00000638076.1:c.*383C=	ENSP00000490373.1:n.*383C=
ENST00000638144.1:n.423C=
ENST00000646164.1:c.39-8615C=
ENST00000249806.9:c.780C=	ENSP00000249806.5:p.Leu260=
ENST00000538696.5:c.876C=	ENSP00000445770.1:p.Leu292=
ENST00000562767.1:c.84-10668C=	ENSP00000456336.1:n.84-10668C=
ENST00000565471.5:c.321C=	ENSP00000457384.1:p.Leu107=
ENST00000566347.5:c.591C=	ENSP00000457783.1:p.Leu197=
ENST00000567060.5:c.*178C=	ENSP00000454818.1:n.*178C=
NM_017882.2:c.780C=	NP_060352.1:p.Leu260=
NM_017882.3:c.780C= MANE Select	NP_060352.1:p.Leu260=