Canonical Allele Identifier: CA2184879690

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209740T= , CM000677.2:g.68209740T=	GRCh38
NC_000015.9:g.68502078T= , CM000677.1:g.68502078T=	GRCh37
NC_000015.8:g.66289132T=	NCBI36
NG_008764.2:g.52472A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.562A= MANE Select	ENSP00000249806.5:p.Ile188=
ENST00000562767.2:c.84-12112A=	ENSP00000456336.1:n.84-12112A=
ENST00000563917.2:n.404A=
ENST00000565471.6:c.103A=	ENSP00000457384.1:p.Ile35=
ENST00000635747.1:c.*465A=	ENSP00000490627.1:n.*465A=
ENST00000636212.1:c.*232A=	ENSP00000489851.1:n.*232A=
ENST00000636314.1:c.258A=	ENSP00000490295.1:p.Ser86=
ENST00000636674.1:n.1664A=
ENST00000636964.1:n.2090A=
ENST00000637054.1:c.198+8796A=	ENSP00000490807.1:n.198+8796A=
ENST00000637223.1:c.*276A=	ENSP00000490010.1:n.*276A=
ENST00000637329.1:c.531A=
ENST00000637450.1:c.*216A=	ENSP00000490204.1:n.*216A=
ENST00000637494.1:c.274A=	ENSP00000490057.1:p.Ile92=
ENST00000637667.1:c.463A=	ENSP00000489843.1:p.Ile155=
ENST00000637823.1:c.387A=
ENST00000637888.1:c.198+8796A=	ENSP00000490546.1:n.198+8796A=
ENST00000638076.1:c.*165A=	ENSP00000490373.1:n.*165A=
ENST00000638144.1:n.205A=
ENST00000646164.1:c.38+8796A=
ENST00000249806.9:c.562A=	ENSP00000249806.5:p.Ile188=
ENST00000538696.5:c.658A=	ENSP00000445770.1:p.Ile220=
ENST00000562767.1:c.84-12112A=	ENSP00000456336.1:n.84-12112A=
ENST00000563917.1:n.462A=
ENST00000564752.1:c.588A=	ENSP00000457822.1:p.Ser196=
ENST00000565471.5:c.103A=	ENSP00000457384.1:p.Ile35=
ENST00000566347.5:c.373A=	ENSP00000457783.1:p.Ile125=
ENST00000567060.5:c.298-20A=	ENSP00000454818.1:n.298-20A=
NM_017882.2:c.562A=	NP_060352.1:p.Ile188=
XR_931861.1:n.784A=
NM_017882.3:c.562A= MANE Select	NP_060352.1:p.Ile188=