Canonical Allele Identifier: CA2184875155

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214355T= , CM000677.2:g.68214355T=	GRCh38
NC_000015.9:g.68506693T= , CM000677.1:g.68506693T=	GRCh37
NC_000015.8:g.66293747T=	NCBI36
NG_008764.2:g.47857A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.232A= MANE Select	ENSP00000249806.5:p.Lys78=
ENST00000562767.2:c.83+15147A=	ENSP00000456336.1:n.83+15147A=
ENST00000563917.2:n.74A=
ENST00000565471.6:c.84-4596A=	ENSP00000457384.1:n.84-4596A=
ENST00000635747.1:c.*135A=	ENSP00000490627.1:n.*135A=
ENST00000635754.1:n.1254A=
ENST00000636020.1:n.364A=
ENST00000636212.1:c.232A=	ENSP00000489851.1:p.Lys78=
ENST00000636314.1:c.117A=	ENSP00000490295.1:p.Thr39=
ENST00000637054.1:c.198+4181A=	ENSP00000490807.1:n.198+4181A=
ENST00000637223.1:c.*135A=	ENSP00000490010.1:n.*135A=
ENST00000637329.1:c.143A=
ENST00000637450.1:c.117A=	ENSP00000490204.1:p.Thr39=
ENST00000637494.1:c.199-3037A=	ENSP00000490057.1:n.199-3037A=
ENST00000637667.1:c.199-2492A=	ENSP00000489843.1:n.199-2492A=
ENST00000637823.1:c.158A=
ENST00000637888.1:c.198+4181A=	ENSP00000490546.1:n.198+4181A=
ENST00000638076.1:c.232A=	ENSP00000490373.1:p.Lys78=
ENST00000638144.1:n.64A=
ENST00000646164.1:c.38+4181A=
ENST00000249806.9:c.232A=	ENSP00000249806.5:p.Lys78=
ENST00000538696.5:c.328A=	ENSP00000445770.1:p.Lys110=
ENST00000562767.1:c.83+15147A=	ENSP00000456336.1:n.83+15147A=
ENST00000563917.1:n.13A=
ENST00000564752.1:c.232A=	ENSP00000457822.1:p.Lys78=
ENST00000564846.1:n.664A=
ENST00000565471.5:c.84-4596A=	ENSP00000457384.1:n.84-4596A=
ENST00000566347.5:c.232A=	ENSP00000457783.1:p.Lys78=
ENST00000567060.5:c.232A=	ENSP00000454818.1:p.Lys78=
NM_017882.2:c.232A=	NP_060352.1:p.Lys78=
XR_931861.1:n.335A=
NM_017882.3:c.232A= MANE Select	NP_060352.1:p.Lys78=