Canonical Allele Identifier: CA2184872289

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211621C= , CM000677.2:g.68211621C=	GRCh38
NC_000015.9:g.68503959C= , CM000677.1:g.68503959C=	GRCh37
NC_000015.8:g.66291013C=	NCBI36
NG_008764.2:g.50591G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+54G= MANE Select	ENSP00000249806.5:n.486+54G=
ENST00000562767.2:c.84-13993G=	ENSP00000456336.1:n.84-13993G=
ENST00000563917.2:n.328+54G=
ENST00000565471.6:c.84-1862G=	ENSP00000457384.1:n.84-1862G=
ENST00000635747.1:c.*389+54G=	ENSP00000490627.1:n.*389+54G=
ENST00000636212.1:c.*91G=	ENSP00000489851.1:n.*91G=
ENST00000636314.1:c.183-303G=	ENSP00000490295.1:n.183-303G=
ENST00000636674.1:n.1523G=
ENST00000636964.1:n.1712G=
ENST00000637054.1:c.198+6915G=	ENSP00000490807.1:n.198+6915G=
ENST00000637223.1:c.*201-303G=	ENSP00000490010.1:n.*201-303G=
ENST00000637329.1:c.455+54G=
ENST00000637450.1:c.*140+54G=	ENSP00000490204.1:n.*140+54G=
ENST00000637494.1:c.199-303G=	ENSP00000490057.1:n.199-303G=
ENST00000637667.1:c.387+54G=	ENSP00000489843.1:n.387+54G=
ENST00000637823.1:c.246G=
ENST00000637888.1:c.198+6915G=	ENSP00000490546.1:n.198+6915G=
ENST00000638076.1:c.*24G=	ENSP00000490373.1:n.*24G=
ENST00000638144.1:n.130-303G=
ENST00000646164.1:c.38+6915G=
ENST00000249806.9:c.486+54G=	ENSP00000249806.5:n.486+54G=
ENST00000538696.5:c.582+54G=	ENSP00000445770.1:n.582+54G=
ENST00000562767.1:c.84-13993G=	ENSP00000456336.1:n.84-13993G=
ENST00000563917.1:n.321G=
ENST00000564752.1:c.512+28G=	ENSP00000457822.1:n.512+28G=
ENST00000565471.5:c.84-1862G=	ENSP00000457384.1:n.84-1862G=
ENST00000566347.5:c.298-303G=	ENSP00000457783.1:n.298-303G=
ENST00000567060.5:c.298-1901G=	ENSP00000454818.1:n.298-1901G=
NM_017882.2:c.486+54G=	NP_060352.1:n.486+54G=
XR_931861.1:n.643G=
NM_017882.3:c.486+54G= MANE Select	NP_060352.1:n.486+54G=