Canonical Allele Identifier: CA2184881246

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211233C= , CM000677.2:g.68211233C=	GRCh38
NC_000015.9:g.68503571C= , CM000677.1:g.68503571C=	GRCh37
NC_000015.8:g.66290625C=	NCBI36
NG_008764.2:g.50979G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.542+30G= MANE Select	ENSP00000249806.5:n.542+30G=
ENST00000562767.2:c.84-13605G=	ENSP00000456336.1:n.84-13605G=
ENST00000563917.2:n.384+30G=
ENST00000565471.6:c.84-1474G=	ENSP00000457384.1:n.84-1474G=
ENST00000635747.1:c.*445+30G=	ENSP00000490627.1:n.*445+30G=
ENST00000636212.1:c.*212+30G=	ENSP00000489851.1:n.*212+30G=
ENST00000636314.1:c.238+30G=	ENSP00000490295.1:n.238+30G=
ENST00000636674.1:n.1644+30G=
ENST00000636964.1:n.2070+30G=
ENST00000637054.1:c.198+7303G=	ENSP00000490807.1:n.198+7303G=
ENST00000637223.1:c.*256+30G=	ENSP00000490010.1:n.*256+30G=
ENST00000637329.1:c.511+30G=
ENST00000637450.1:c.*196+30G=	ENSP00000490204.1:n.*196+30G=
ENST00000637494.1:c.254+30G=	ENSP00000490057.1:n.254+30G=
ENST00000637667.1:c.443+30G=	ENSP00000489843.1:n.443+30G=
ENST00000637823.1:c.367+30G=
ENST00000637888.1:c.198+7303G=	ENSP00000490546.1:n.198+7303G=
ENST00000638076.1:c.*145+30G=	ENSP00000490373.1:n.*145+30G=
ENST00000638144.1:n.185+30G=
ENST00000646164.1:c.38+7303G=
ENST00000249806.9:c.542+30G=	ENSP00000249806.5:n.542+30G=
ENST00000538696.5:c.638+30G=	ENSP00000445770.1:n.638+30G=
ENST00000562767.1:c.84-13605G=	ENSP00000456336.1:n.84-13605G=
ENST00000563917.1:n.442+30G=
ENST00000564752.1:c.568+30G=	ENSP00000457822.1:n.568+30G=
ENST00000565471.5:c.84-1474G=	ENSP00000457384.1:n.84-1474G=
ENST00000566347.5:c.353+30G=	ENSP00000457783.1:n.353+30G=
ENST00000567060.5:c.298-1513G=	ENSP00000454818.1:n.298-1513G=
NM_017882.2:c.542+30G=	NP_060352.1:n.542+30G=
XR_931861.1:n.764+30G=
NM_017882.3:c.542+30G= MANE Select	NP_060352.1:n.542+30G=