Canonical Allele Identifier: CA2184872325

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211640A= , CM000677.2:g.68211640A=	GRCh38
NC_000015.9:g.68503978A= , CM000677.1:g.68503978A=	GRCh37
NC_000015.8:g.66291032A=	NCBI36
NG_008764.2:g.50572T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+35T= MANE Select	ENSP00000249806.5:n.486+35T=
ENST00000562767.2:c.84-14012T=	ENSP00000456336.1:n.84-14012T=
ENST00000563917.2:n.328+35T=
ENST00000565471.6:c.84-1881T=	ENSP00000457384.1:n.84-1881T=
ENST00000635747.1:c.*389+35T=	ENSP00000490627.1:n.*389+35T=
ENST00000636212.1:c.*72T=	ENSP00000489851.1:n.*72T=
ENST00000636314.1:c.183-322T=	ENSP00000490295.1:n.183-322T=
ENST00000636674.1:n.1504T=
ENST00000636964.1:n.1693T=
ENST00000637054.1:c.198+6896T=	ENSP00000490807.1:n.198+6896T=
ENST00000637223.1:c.*201-322T=	ENSP00000490010.1:n.*201-322T=
ENST00000637329.1:c.455+35T=
ENST00000637450.1:c.*140+35T=	ENSP00000490204.1:n.*140+35T=
ENST00000637494.1:c.199-322T=	ENSP00000490057.1:n.199-322T=
ENST00000637667.1:c.387+35T=	ENSP00000489843.1:n.387+35T=
ENST00000637823.1:c.227T=
ENST00000637888.1:c.198+6896T=	ENSP00000490546.1:n.198+6896T=
ENST00000638076.1:c.*5T=	ENSP00000490373.1:n.*5T=
ENST00000638144.1:n.130-322T=
ENST00000646164.1:c.38+6896T=
ENST00000249806.9:c.486+35T=	ENSP00000249806.5:n.486+35T=
ENST00000538696.5:c.582+35T=	ENSP00000445770.1:n.582+35T=
ENST00000562767.1:c.84-14012T=	ENSP00000456336.1:n.84-14012T=
ENST00000563917.1:n.302T=
ENST00000564752.1:c.512+9T=	ENSP00000457822.1:n.512+9T=
ENST00000565471.5:c.84-1881T=	ENSP00000457384.1:n.84-1881T=
ENST00000566347.5:c.298-322T=	ENSP00000457783.1:n.298-322T=
ENST00000567060.5:c.298-1920T=	ENSP00000454818.1:n.298-1920T=
NM_017882.2:c.486+35T=	NP_060352.1:n.486+35T=
XR_931861.1:n.624T=
NM_017882.3:c.486+35T= MANE Select	NP_060352.1:n.486+35T=