Canonical Allele Identifier: CA2184877797

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208177C= , CM000677.2:g.68208177C=	GRCh38
NC_000015.9:g.68500515C= , CM000677.1:g.68500515C=	GRCh37
NC_000015.8:g.66287569C=	NCBI36
NG_008764.2:g.54035G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.899G= MANE Select	ENSP00000249806.5:p.Trp300=
ENST00000562767.2:c.84-10549G=	ENSP00000456336.1:n.84-10549G=
ENST00000565471.6:c.440G=	ENSP00000457384.1:p.Trp147=
ENST00000635747.1:c.*802G=	ENSP00000490627.1:n.*802G=
ENST00000636212.1:c.*569G=	ENSP00000489851.1:n.*569G=
ENST00000636674.1:n.2001G=
ENST00000636964.1:n.2427G=
ENST00000637054.1:c.198+10359G=	ENSP00000490807.1:n.198+10359G=
ENST00000637329.1:c.868G=
ENST00000637494.1:c.611G=	ENSP00000490057.1:p.Trp204=
ENST00000637888.1:c.198+10359G=	ENSP00000490546.1:n.198+10359G=
ENST00000638076.1:c.*502G=	ENSP00000490373.1:n.*502G=
ENST00000638144.1:n.542G=
ENST00000646164.1:c.39-8496G=
ENST00000249806.9:c.899G=	ENSP00000249806.5:p.Trp300=
ENST00000538696.5:c.995G=	ENSP00000445770.1:p.Trp332=
ENST00000562767.1:c.84-10549G=	ENSP00000456336.1:n.84-10549G=
ENST00000565471.5:c.440G=	ENSP00000457384.1:p.Trp147=
ENST00000566347.5:c.710G=	ENSP00000457783.1:p.Trp237=
ENST00000567060.5:c.*297G=	ENSP00000454818.1:n.*297G=
NM_017882.2:c.899G=	NP_060352.1:p.Trp300=
NM_017882.3:c.899G= MANE Select	NP_060352.1:p.Trp300=