Canonical Allele Identifier: CA2184872454

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211692G= , CM000677.2:g.68211692G=	GRCh38
NC_000015.9:g.68504030G= , CM000677.1:g.68504030G=	GRCh37
NC_000015.8:g.66291084G=	NCBI36
NG_008764.2:g.50520C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.469C= MANE Select	ENSP00000249806.5:p.Leu157=
ENST00000562767.2:c.84-14064C=	ENSP00000456336.1:n.84-14064C=
ENST00000563917.2:n.311C=
ENST00000565471.6:c.84-1933C=	ENSP00000457384.1:n.84-1933C=
ENST00000635747.1:c.*372C=	ENSP00000490627.1:n.*372C=
ENST00000636212.1:c.*20C=	ENSP00000489851.1:n.*20C=
ENST00000636314.1:c.183-374C=	ENSP00000490295.1:n.183-374C=
ENST00000636674.1:n.1452C=
ENST00000636964.1:n.1641C=
ENST00000637054.1:c.198+6844C=	ENSP00000490807.1:n.198+6844C=
ENST00000637223.1:c.*201-374C=	ENSP00000490010.1:n.*201-374C=
ENST00000637329.1:c.438C=
ENST00000637450.1:c.*123C=	ENSP00000490204.1:n.*123C=
ENST00000637494.1:c.199-374C=	ENSP00000490057.1:n.199-374C=
ENST00000637667.1:c.370C=	ENSP00000489843.1:p.Leu124=
ENST00000637823.1:c.224-49C=
ENST00000637888.1:c.198+6844C=	ENSP00000490546.1:n.198+6844C=
ENST00000638076.1:c.469C=	ENSP00000490373.1:p.Leu157=
ENST00000638144.1:n.130-374C=
ENST00000646164.1:c.38+6844C=
ENST00000249806.9:c.469C=	ENSP00000249806.5:p.Leu157=
ENST00000538696.5:c.565C=	ENSP00000445770.1:p.Leu189=
ENST00000562767.1:c.84-14064C=	ENSP00000456336.1:n.84-14064C=
ENST00000563917.1:n.250C=
ENST00000564752.1:c.469C=	ENSP00000457822.1:p.Leu157=
ENST00000565471.5:c.84-1933C=	ENSP00000457384.1:n.84-1933C=
ENST00000566347.5:c.298-374C=	ENSP00000457783.1:n.298-374C=
ENST00000567060.5:c.298-1972C=	ENSP00000454818.1:n.298-1972C=
NM_017882.2:c.469C=	NP_060352.1:p.Leu157=
XR_931861.1:n.572C=
NM_017882.3:c.469C= MANE Select	NP_060352.1:p.Leu157=