Canonical Allele Identifier: CA2184872577

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211754C= , CM000677.2:g.68211754C=	GRCh38
NC_000015.9:g.68504092C= , CM000677.1:g.68504092C=	GRCh37
NC_000015.8:g.66291146C=	NCBI36
NG_008764.2:g.50458G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.407G= MANE Select	ENSP00000249806.5:p.Arg136=
ENST00000562767.2:c.84-14126G=	ENSP00000456336.1:n.84-14126G=
ENST00000563917.2:n.249G=
ENST00000565471.6:c.84-1995G=	ENSP00000457384.1:n.84-1995G=
ENST00000635747.1:c.*310G=	ENSP00000490627.1:n.*310G=
ENST00000636212.1:c.298-13G=	ENSP00000489851.1:n.298-13G=
ENST00000636314.1:c.183-436G=	ENSP00000490295.1:n.183-436G=
ENST00000636674.1:n.1390G=
ENST00000636964.1:n.1579G=
ENST00000637054.1:c.198+6782G=	ENSP00000490807.1:n.198+6782G=
ENST00000637223.1:c.*201-436G=	ENSP00000490010.1:n.*201-436G=
ENST00000637329.1:c.376G=
ENST00000637450.1:c.*61G=	ENSP00000490204.1:n.*61G=
ENST00000637494.1:c.199-436G=	ENSP00000490057.1:n.199-436G=
ENST00000637667.1:c.308G=	ENSP00000489843.1:p.Arg103=
ENST00000637823.1:c.224-111G=
ENST00000637888.1:c.198+6782G=	ENSP00000490546.1:n.198+6782G=
ENST00000638076.1:c.407G=	ENSP00000490373.1:p.Arg136=
ENST00000638144.1:n.130-436G=
ENST00000646164.1:c.38+6782G=
ENST00000249806.9:c.407G=	ENSP00000249806.5:p.Arg136=
ENST00000538696.5:c.503G=	ENSP00000445770.1:p.Arg168=
ENST00000562767.1:c.84-14126G=	ENSP00000456336.1:n.84-14126G=
ENST00000563917.1:n.188G=
ENST00000564752.1:c.407G=	ENSP00000457822.1:p.Arg136=
ENST00000565471.5:c.84-1995G=	ENSP00000457384.1:n.84-1995G=
ENST00000566347.5:c.298-436G=	ENSP00000457783.1:n.298-436G=
ENST00000567060.5:c.298-2034G=	ENSP00000454818.1:n.298-2034G=
NM_017882.2:c.407G=	NP_060352.1:p.Arg136=
XR_931861.1:n.510G=
NM_017882.3:c.407G= MANE Select	NP_060352.1:p.Arg136=