Canonical Allele Identifier: CA2184879673

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209737G= , CM000677.2:g.68209737G=	GRCh38
NC_000015.9:g.68502075G= , CM000677.1:g.68502075G=	GRCh37
NC_000015.8:g.66289129G=	NCBI36
NG_008764.2:g.52475C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.565C= MANE Select	ENSP00000249806.5:p.Leu189=
ENST00000562767.2:c.84-12109C=	ENSP00000456336.1:n.84-12109C=
ENST00000563917.2:n.407C=
ENST00000565471.6:c.106C=	ENSP00000457384.1:p.Leu36=
ENST00000635747.1:c.*468C=	ENSP00000490627.1:n.*468C=
ENST00000636212.1:c.*235C=	ENSP00000489851.1:n.*235C=
ENST00000636314.1:c.261C=	ENSP00000490295.1:p.Ser87=
ENST00000636674.1:n.1667C=
ENST00000636964.1:n.2093C=
ENST00000637054.1:c.198+8799C=	ENSP00000490807.1:n.198+8799C=
ENST00000637223.1:c.*279C=	ENSP00000490010.1:n.*279C=
ENST00000637329.1:c.534C=
ENST00000637450.1:c.*219C=	ENSP00000490204.1:n.*219C=
ENST00000637494.1:c.277C=	ENSP00000490057.1:p.Leu93=
ENST00000637667.1:c.466C=	ENSP00000489843.1:p.Leu156=
ENST00000637823.1:c.390C=
ENST00000637888.1:c.198+8799C=	ENSP00000490546.1:n.198+8799C=
ENST00000638076.1:c.*168C=	ENSP00000490373.1:n.*168C=
ENST00000638144.1:n.208C=
ENST00000646164.1:c.38+8799C=
ENST00000249806.9:c.565C=	ENSP00000249806.5:p.Leu189=
ENST00000538696.5:c.661C=	ENSP00000445770.1:p.Leu221=
ENST00000562767.1:c.84-12109C=	ENSP00000456336.1:n.84-12109C=
ENST00000563917.1:n.465C=
ENST00000564752.1:c.591C=	ENSP00000457822.1:p.Ser197=
ENST00000565471.5:c.106C=	ENSP00000457384.1:p.Leu36=
ENST00000566347.5:c.376C=	ENSP00000457783.1:p.Leu126=
ENST00000567060.5:c.298-17C=	ENSP00000454818.1:n.298-17C=
NM_017882.2:c.565C=	NP_060352.1:p.Leu189=
XR_931861.1:n.787C=
NM_017882.3:c.565C= MANE Select	NP_060352.1:p.Leu189=