Canonical Allele Identifier: CA2184872498

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211719C= , CM000677.2:g.68211719C=	GRCh38
NC_000015.9:g.68504057C= , CM000677.1:g.68504057C=	GRCh37
NC_000015.8:g.66291111C=	NCBI36
NG_008764.2:g.50493G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.442G= MANE Select	ENSP00000249806.5:p.Val148=
ENST00000562767.2:c.84-14091G=	ENSP00000456336.1:n.84-14091G=
ENST00000563917.2:n.284G=
ENST00000565471.6:c.84-1960G=	ENSP00000457384.1:n.84-1960G=
ENST00000635747.1:c.*345G=	ENSP00000490627.1:n.*345G=
ENST00000636212.1:c.320G=	ENSP00000489851.1:p.Cys107=
ENST00000636314.1:c.183-401G=	ENSP00000490295.1:n.183-401G=
ENST00000636674.1:n.1425G=
ENST00000636964.1:n.1614G=
ENST00000637054.1:c.198+6817G=	ENSP00000490807.1:n.198+6817G=
ENST00000637223.1:c.*201-401G=	ENSP00000490010.1:n.*201-401G=
ENST00000637329.1:c.411G=
ENST00000637450.1:c.*96G=	ENSP00000490204.1:n.*96G=
ENST00000637494.1:c.199-401G=	ENSP00000490057.1:n.199-401G=
ENST00000637667.1:c.343G=	ENSP00000489843.1:p.Val115=
ENST00000637823.1:c.224-76G=
ENST00000637888.1:c.198+6817G=	ENSP00000490546.1:n.198+6817G=
ENST00000638076.1:c.442G=	ENSP00000490373.1:p.Val148=
ENST00000638144.1:n.130-401G=
ENST00000646164.1:c.38+6817G=
ENST00000249806.9:c.442G=	ENSP00000249806.5:p.Val148=
ENST00000538696.5:c.538G=	ENSP00000445770.1:p.Val180=
ENST00000562767.1:c.84-14091G=	ENSP00000456336.1:n.84-14091G=
ENST00000563917.1:n.223G=
ENST00000564752.1:c.442G=	ENSP00000457822.1:p.Val148=
ENST00000565471.5:c.84-1960G=	ENSP00000457384.1:n.84-1960G=
ENST00000566347.5:c.298-401G=	ENSP00000457783.1:n.298-401G=
ENST00000567060.5:c.298-1999G=	ENSP00000454818.1:n.298-1999G=
NM_017882.2:c.442G=	NP_060352.1:p.Val148=
XR_931861.1:n.545G=
NM_017882.3:c.442G= MANE Select	NP_060352.1:p.Val148=