Canonical Allele Identifier: CA2184879559

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209688A= , CM000677.2:g.68209688A=	GRCh38
NC_000015.9:g.68502026A= , CM000677.1:g.68502026A=	GRCh37
NC_000015.8:g.66289080A=	NCBI36
NG_008764.2:g.52524T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.614T= MANE Select	ENSP00000249806.5:p.Leu205=
ENST00000562767.2:c.84-12060T=	ENSP00000456336.1:n.84-12060T=
ENST00000563917.2:n.456T=
ENST00000565471.6:c.155T=	ENSP00000457384.1:p.Leu52=
ENST00000635747.1:c.*517T=	ENSP00000490627.1:n.*517T=
ENST00000636212.1:c.*284T=	ENSP00000489851.1:n.*284T=
ENST00000636314.1:c.310T=	ENSP00000490295.1:p.Ter104=
ENST00000636674.1:n.1716T=
ENST00000636964.1:n.2142T=
ENST00000637054.1:c.198+8848T=	ENSP00000490807.1:n.198+8848T=
ENST00000637329.1:c.583T=
ENST00000637450.1:c.*268T=	ENSP00000490204.1:n.*268T=
ENST00000637494.1:c.326T=	ENSP00000490057.1:p.Leu109=
ENST00000637667.1:c.515T=	ENSP00000489843.1:p.Leu172=
ENST00000637823.1:c.439T=
ENST00000637888.1:c.198+8848T=	ENSP00000490546.1:n.198+8848T=
ENST00000638076.1:c.*217T=	ENSP00000490373.1:n.*217T=
ENST00000638144.1:n.257T=
ENST00000646164.1:c.38+8848T=
ENST00000249806.9:c.614T=	ENSP00000249806.5:p.Leu205=
ENST00000538696.5:c.710T=	ENSP00000445770.1:p.Leu237=
ENST00000562767.1:c.84-12060T=	ENSP00000456336.1:n.84-12060T=
ENST00000563917.1:n.514T=
ENST00000564752.1:c.640T=	ENSP00000457822.1:p.Ter214=
ENST00000565471.5:c.155T=	ENSP00000457384.1:p.Leu52=
ENST00000566347.5:c.425T=	ENSP00000457783.1:p.Leu142=
ENST00000567060.5:c.*12T=	ENSP00000454818.1:n.*12T=
NM_017882.2:c.614T=	NP_060352.1:p.Leu205=
XR_931861.1:n.836T=
NM_017882.3:c.614T= MANE Select	NP_060352.1:p.Leu205=