Canonical Allele Identifier: CA2184872368

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211661G= , CM000677.2:g.68211661G=	GRCh38
NC_000015.9:g.68503999G= , CM000677.1:g.68503999G=	GRCh37
NC_000015.8:g.66291053G=	NCBI36
NG_008764.2:g.50551C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+14C= MANE Select	ENSP00000249806.5:n.486+14C=
ENST00000562767.2:c.84-14033C=	ENSP00000456336.1:n.84-14033C=
ENST00000563917.2:n.328+14C=
ENST00000565471.6:c.84-1902C=	ENSP00000457384.1:n.84-1902C=
ENST00000635747.1:c.*389+14C=	ENSP00000490627.1:n.*389+14C=
ENST00000636212.1:c.*51C=	ENSP00000489851.1:n.*51C=
ENST00000636314.1:c.183-343C=	ENSP00000490295.1:n.183-343C=
ENST00000636674.1:n.1483C=
ENST00000636964.1:n.1672C=
ENST00000637054.1:c.198+6875C=	ENSP00000490807.1:n.198+6875C=
ENST00000637223.1:c.*201-343C=	ENSP00000490010.1:n.*201-343C=
ENST00000637329.1:c.455+14C=
ENST00000637450.1:c.*140+14C=	ENSP00000490204.1:n.*140+14C=
ENST00000637494.1:c.199-343C=	ENSP00000490057.1:n.199-343C=
ENST00000637667.1:c.387+14C=	ENSP00000489843.1:n.387+14C=
ENST00000637823.1:c.224-18C=
ENST00000637888.1:c.198+6875C=	ENSP00000490546.1:n.198+6875C=
ENST00000638076.1:c.500C=	ENSP00000490373.1:p.Pro167=
ENST00000638144.1:n.130-343C=
ENST00000646164.1:c.38+6875C=
ENST00000249806.9:c.486+14C=	ENSP00000249806.5:n.486+14C=
ENST00000538696.5:c.582+14C=	ENSP00000445770.1:n.582+14C=
ENST00000562767.1:c.84-14033C=	ENSP00000456336.1:n.84-14033C=
ENST00000563917.1:n.281C=
ENST00000564752.1:c.500C=	ENSP00000457822.1:p.Pro167=
ENST00000565471.5:c.84-1902C=	ENSP00000457384.1:n.84-1902C=
ENST00000566347.5:c.298-343C=	ENSP00000457783.1:n.298-343C=
ENST00000567060.5:c.298-1941C=	ENSP00000454818.1:n.298-1941C=
NM_017882.2:c.486+14C=	NP_060352.1:n.486+14C=
XR_931861.1:n.603C=
NM_017882.3:c.486+14C= MANE Select	NP_060352.1:n.486+14C=