Canonical Allele Identifier: CA2184879695

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209743G= , CM000677.2:g.68209743G=	GRCh38
NC_000015.9:g.68502081G= , CM000677.1:g.68502081G=	GRCh37
NC_000015.8:g.66289135G=	NCBI36
NG_008764.2:g.52469C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.559C= MANE Select	ENSP00000249806.5:p.Leu187=
ENST00000562767.2:c.84-12115C=	ENSP00000456336.1:n.84-12115C=
ENST00000563917.2:n.401C=
ENST00000565471.6:c.100C=	ENSP00000457384.1:p.Leu34=
ENST00000635747.1:c.*462C=	ENSP00000490627.1:n.*462C=
ENST00000636212.1:c.*229C=	ENSP00000489851.1:n.*229C=
ENST00000636314.1:c.255C=	ENSP00000490295.1:p.Ser85=
ENST00000636674.1:n.1661C=
ENST00000636964.1:n.2087C=
ENST00000637054.1:c.198+8793C=	ENSP00000490807.1:n.198+8793C=
ENST00000637223.1:c.*273C=	ENSP00000490010.1:n.*273C=
ENST00000637329.1:c.528C=
ENST00000637450.1:c.*213C=	ENSP00000490204.1:n.*213C=
ENST00000637494.1:c.271C=	ENSP00000490057.1:p.Leu91=
ENST00000637667.1:c.460C=	ENSP00000489843.1:p.Leu154=
ENST00000637823.1:c.384C=
ENST00000637888.1:c.198+8793C=	ENSP00000490546.1:n.198+8793C=
ENST00000638076.1:c.*162C=	ENSP00000490373.1:n.*162C=
ENST00000638144.1:n.202C=
ENST00000646164.1:c.38+8793C=
ENST00000249806.9:c.559C=	ENSP00000249806.5:p.Leu187=
ENST00000538696.5:c.655C=	ENSP00000445770.1:p.Leu219=
ENST00000562767.1:c.84-12115C=	ENSP00000456336.1:n.84-12115C=
ENST00000563917.1:n.459C=
ENST00000564752.1:c.585C=	ENSP00000457822.1:p.Ser195=
ENST00000565471.5:c.100C=	ENSP00000457384.1:p.Leu34=
ENST00000566347.5:c.370C=	ENSP00000457783.1:p.Leu124=
ENST00000567060.5:c.298-23C=	ENSP00000454818.1:n.298-23C=
NM_017882.2:c.559C=	NP_060352.1:p.Leu187=
XR_931861.1:n.781C=
NM_017882.3:c.559C= MANE Select	NP_060352.1:p.Leu187=