Canonical Allele Identifier: CA2184879539

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209668G= , CM000677.2:g.68209668G=	GRCh38
NC_000015.9:g.68502006G= , CM000677.1:g.68502006G=	GRCh37
NC_000015.8:g.66289060G=	NCBI36
NG_008764.2:g.52544C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.634C= MANE Select	ENSP00000249806.5:p.Leu212=
ENST00000562767.2:c.84-12040C=	ENSP00000456336.1:n.84-12040C=
ENST00000563917.2:n.476C=
ENST00000565471.6:c.175C=	ENSP00000457384.1:p.Leu59=
ENST00000635747.1:c.*537C=	ENSP00000490627.1:n.*537C=
ENST00000636212.1:c.*304C=	ENSP00000489851.1:n.*304C=
ENST00000636674.1:n.1736C=
ENST00000636964.1:n.2162C=
ENST00000637054.1:c.198+8868C=	ENSP00000490807.1:n.198+8868C=
ENST00000637329.1:c.603C=
ENST00000637450.1:c.*288C=	ENSP00000490204.1:n.*288C=
ENST00000637494.1:c.346C=	ENSP00000490057.1:p.Leu116=
ENST00000637667.1:c.535C=	ENSP00000489843.1:p.Leu179=
ENST00000637823.1:c.459C=
ENST00000637888.1:c.198+8868C=	ENSP00000490546.1:n.198+8868C=
ENST00000638076.1:c.*237C=	ENSP00000490373.1:n.*237C=
ENST00000638144.1:n.277C=
ENST00000646164.1:c.38+8868C=
ENST00000249806.9:c.634C=	ENSP00000249806.5:p.Leu212=
ENST00000538696.5:c.730C=	ENSP00000445770.1:p.Leu244=
ENST00000562767.1:c.84-12040C=	ENSP00000456336.1:n.84-12040C=
ENST00000563917.1:n.534C=
ENST00000564752.1:c.*18C=	ENSP00000457822.1:n.*18C=
ENST00000565471.5:c.175C=	ENSP00000457384.1:p.Leu59=
ENST00000566347.5:c.445C=	ENSP00000457783.1:p.Leu149=
ENST00000567060.5:c.*32C=	ENSP00000454818.1:n.*32C=
NM_017882.2:c.634C=	NP_060352.1:p.Leu212=
XR_931861.1:n.856C=
NM_017882.3:c.634C= MANE Select	NP_060352.1:p.Leu212=