Canonical Allele Identifier: CA2184873030

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211996C= , CM000677.2:g.68211996C=	GRCh38
NC_000015.9:g.68504334C= , CM000677.1:g.68504334C=	GRCh37
NC_000015.8:g.66291388C=	NCBI36
NG_008764.2:g.50216G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-133G= MANE Select	ENSP00000249806.5:n.298-133G=
ENST00000562767.2:c.84-14368G=	ENSP00000456336.1:n.84-14368G=
ENST00000563917.2:n.140-133G=
ENST00000565471.6:c.84-2237G=	ENSP00000457384.1:n.84-2237G=
ENST00000635747.1:c.*201-133G=	ENSP00000490627.1:n.*201-133G=
ENST00000636212.1:c.298-255G=	ENSP00000489851.1:n.298-255G=
ENST00000636314.1:c.183-678G=	ENSP00000490295.1:n.183-678G=
ENST00000636674.1:n.1148G=
ENST00000636964.1:n.1337G=
ENST00000637054.1:c.198+6540G=	ENSP00000490807.1:n.198+6540G=
ENST00000637223.1:c.*201-678G=	ENSP00000490010.1:n.*201-678G=
ENST00000637329.1:c.209-75G=
ENST00000637450.1:c.183-133G=	ENSP00000490204.1:n.183-133G=
ENST00000637494.1:c.199-678G=	ENSP00000490057.1:n.199-678G=
ENST00000637667.1:c.199-133G=	ENSP00000489843.1:n.199-133G=
ENST00000637823.1:c.224-353G=
ENST00000637888.1:c.198+6540G=	ENSP00000490546.1:n.198+6540G=
ENST00000638076.1:c.298-133G=	ENSP00000490373.1:n.298-133G=
ENST00000638144.1:n.130-678G=
ENST00000646164.1:c.38+6540G=
ENST00000249806.9:c.298-133G=	ENSP00000249806.5:n.298-133G=
ENST00000538696.5:c.394-133G=	ENSP00000445770.1:n.394-133G=
ENST00000562767.1:c.84-14368G=	ENSP00000456336.1:n.84-14368G=
ENST00000563917.1:n.79-133G=
ENST00000564752.1:c.298-133G=	ENSP00000457822.1:n.298-133G=
ENST00000565471.5:c.84-2237G=	ENSP00000457384.1:n.84-2237G=
ENST00000566347.5:c.298-678G=	ENSP00000457783.1:n.298-678G=
ENST00000567060.5:c.298-2276G=	ENSP00000454818.1:n.298-2276G=
NM_017882.2:c.298-133G=	NP_060352.1:n.298-133G=
XR_931861.1:n.401-133G=
NM_017882.3:c.298-133G= MANE Select	NP_060352.1:n.298-133G=