Canonical Allele Identifier: CA2184878220

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218289G= , CM000677.2:g.68218289G=	GRCh38
NC_000015.9:g.68510627G= , CM000677.1:g.68510627G=	GRCh37
NC_000015.8:g.66297681G=	NCBI36
NG_008764.2:g.43923C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.198+247C= MANE Select	ENSP00000249806.5:n.198+247C=
ENST00000562767.2:c.83+11213C=	ENSP00000456336.1:n.83+11213C=
ENST00000563917.2:n.41-3901C=
ENST00000565471.6:c.84-8530C=	ENSP00000457384.1:n.84-8530C=
ENST00000569336.2:n.354C=
ENST00000635747.1:c.*101+247C=	ENSP00000490627.1:n.*101+247C=
ENST00000636020.1:n.330+247C=
ENST00000636212.1:c.198+247C=	ENSP00000489851.1:n.198+247C=
ENST00000636314.1:c.84-3901C=	ENSP00000490295.1:n.84-3901C=
ENST00000637054.1:c.198+247C=	ENSP00000490807.1:n.198+247C=
ENST00000637223.1:c.*101+247C=	ENSP00000490010.1:n.*101+247C=
ENST00000637329.1:c.109+247C=
ENST00000637450.1:c.84-3901C=	ENSP00000490204.1:n.84-3901C=
ENST00000637494.1:c.198+247C=	ENSP00000490057.1:n.198+247C=
ENST00000637667.1:c.198+247C=	ENSP00000489843.1:n.198+247C=
ENST00000637823.1:c.124+247C=
ENST00000637888.1:c.198+247C=	ENSP00000490546.1:n.198+247C=
ENST00000638076.1:c.198+247C=	ENSP00000490373.1:n.198+247C=
ENST00000638144.1:n.31-3901C=
ENST00000646164.1:c.38+247C=
ENST00000249806.9:c.198+247C=	ENSP00000249806.5:n.198+247C=
ENST00000538696.5:c.294+247C=	ENSP00000445770.1:n.294+247C=
ENST00000562767.1:c.83+11213C=	ENSP00000456336.1:n.83+11213C=
ENST00000564752.1:c.198+247C=	ENSP00000457822.1:n.198+247C=
ENST00000564846.1:n.630+247C=
ENST00000565471.5:c.84-8530C=	ENSP00000457384.1:n.84-8530C=
ENST00000566347.5:c.198+247C=	ENSP00000457783.1:n.198+247C=
ENST00000567060.5:c.198+247C=	ENSP00000454818.1:n.198+247C=
ENST00000569336.1:n.353+178C=
NM_017882.2:c.198+247C=	NP_060352.1:n.198+247C=
XR_931861.1:n.301+247C=
NM_017882.3:c.198+247C= MANE Select	NP_060352.1:n.198+247C=