Canonical Allele Identifier: CA2184872567

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211749G= , CM000677.2:g.68211749G=	GRCh38
NC_000015.9:g.68504087G= , CM000677.1:g.68504087G=	GRCh37
NC_000015.8:g.66291141G=	NCBI36
NG_008764.2:g.50463C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.412C= MANE Select	ENSP00000249806.5:p.Leu138=
ENST00000562767.2:c.84-14121C=	ENSP00000456336.1:n.84-14121C=
ENST00000563917.2:n.254C=
ENST00000565471.6:c.84-1990C=	ENSP00000457384.1:n.84-1990C=
ENST00000635747.1:c.*315C=	ENSP00000490627.1:n.*315C=
ENST00000636212.1:c.298-8C=	ENSP00000489851.1:n.298-8C=
ENST00000636314.1:c.183-431C=	ENSP00000490295.1:n.183-431C=
ENST00000636674.1:n.1395C=
ENST00000636964.1:n.1584C=
ENST00000637054.1:c.198+6787C=	ENSP00000490807.1:n.198+6787C=
ENST00000637223.1:c.*201-431C=	ENSP00000490010.1:n.*201-431C=
ENST00000637329.1:c.381C=
ENST00000637450.1:c.*66C=	ENSP00000490204.1:n.*66C=
ENST00000637494.1:c.199-431C=	ENSP00000490057.1:n.199-431C=
ENST00000637667.1:c.313C=	ENSP00000489843.1:p.Leu105=
ENST00000637823.1:c.224-106C=
ENST00000637888.1:c.198+6787C=	ENSP00000490546.1:n.198+6787C=
ENST00000638076.1:c.412C=	ENSP00000490373.1:p.Leu138=
ENST00000638144.1:n.130-431C=
ENST00000646164.1:c.38+6787C=
ENST00000249806.9:c.412C=	ENSP00000249806.5:p.Leu138=
ENST00000538696.5:c.508C=	ENSP00000445770.1:p.Leu170=
ENST00000562767.1:c.84-14121C=	ENSP00000456336.1:n.84-14121C=
ENST00000563917.1:n.193C=
ENST00000564752.1:c.412C=	ENSP00000457822.1:p.Leu138=
ENST00000565471.5:c.84-1990C=	ENSP00000457384.1:n.84-1990C=
ENST00000566347.5:c.298-431C=	ENSP00000457783.1:n.298-431C=
ENST00000567060.5:c.298-2029C=	ENSP00000454818.1:n.298-2029C=
NM_017882.2:c.412C=	NP_060352.1:p.Leu138=
XR_931861.1:n.515C=
NM_017882.3:c.412C= MANE Select	NP_060352.1:p.Leu138=