Canonical Allele Identifier: CA2184879490

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209645C= , CM000677.2:g.68209645C=	GRCh38
NC_000015.9:g.68501983C= , CM000677.1:g.68501983C=	GRCh37
NC_000015.8:g.66289037C=	NCBI36
NG_008764.2:g.52567G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.657G= MANE Select	ENSP00000249806.5:p.Leu219=
ENST00000562767.2:c.84-12017G=	ENSP00000456336.1:n.84-12017G=
ENST00000563917.2:n.499G=
ENST00000565471.6:c.198G=	ENSP00000457384.1:p.Leu66=
ENST00000635747.1:c.*560G=	ENSP00000490627.1:n.*560G=
ENST00000636212.1:c.*327G=	ENSP00000489851.1:n.*327G=
ENST00000636674.1:n.1759G=
ENST00000636964.1:n.2185G=
ENST00000637054.1:c.198+8891G=	ENSP00000490807.1:n.198+8891G=
ENST00000637329.1:c.626G=
ENST00000637450.1:c.*311G=	ENSP00000490204.1:n.*311G=
ENST00000637494.1:c.369G=	ENSP00000490057.1:p.Leu123=
ENST00000637667.1:c.558G=	ENSP00000489843.1:p.Leu186=
ENST00000637823.1:c.482G=
ENST00000637888.1:c.198+8891G=	ENSP00000490546.1:n.198+8891G=
ENST00000638076.1:c.*260G=	ENSP00000490373.1:n.*260G=
ENST00000638144.1:n.300G=
ENST00000646164.1:c.38+8891G=
ENST00000249806.9:c.657G=	ENSP00000249806.5:p.Leu219=
ENST00000538696.5:c.753G=	ENSP00000445770.1:p.Leu251=
ENST00000562767.1:c.84-12017G=	ENSP00000456336.1:n.84-12017G=
ENST00000563917.1:n.557G=
ENST00000564752.1:c.*41G=	ENSP00000457822.1:n.*41G=
ENST00000565471.5:c.198G=	ENSP00000457384.1:p.Leu66=
ENST00000566347.5:c.468G=	ENSP00000457783.1:p.Leu156=
ENST00000567060.5:c.*55G=	ENSP00000454818.1:n.*55G=
NM_017882.2:c.657G=	NP_060352.1:p.Leu219=
XR_931861.1:n.879G=
NM_017882.3:c.657G= MANE Select	NP_060352.1:p.Leu219=