Canonical Allele Identifier: CA2184878051

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208284G= , CM000677.2:g.68208284G=	GRCh38
NC_000015.9:g.68500622G= , CM000677.1:g.68500622G=	GRCh37
NC_000015.8:g.66287676G=	NCBI36
NG_008764.2:g.53928C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.792C= MANE Select	ENSP00000249806.5:p.Ser264=
ENST00000562767.2:c.84-10656C=	ENSP00000456336.1:n.84-10656C=
ENST00000565471.6:c.333C=	ENSP00000457384.1:p.Ser111=
ENST00000635747.1:c.*695C=	ENSP00000490627.1:n.*695C=
ENST00000636212.1:c.*462C=	ENSP00000489851.1:n.*462C=
ENST00000636674.1:n.1894C=
ENST00000636964.1:n.2320C=
ENST00000637054.1:c.198+10252C=	ENSP00000490807.1:n.198+10252C=
ENST00000637329.1:c.761C=
ENST00000637450.1:c.*446C=	ENSP00000490204.1:n.*446C=
ENST00000637494.1:c.504C=	ENSP00000490057.1:p.Ser168=
ENST00000637667.1:c.693C=	ENSP00000489843.1:p.Ser231=
ENST00000637823.1:c.617C=
ENST00000637888.1:c.198+10252C=	ENSP00000490546.1:n.198+10252C=
ENST00000638076.1:c.*395C=	ENSP00000490373.1:n.*395C=
ENST00000638144.1:n.435C=
ENST00000646164.1:c.39-8603C=
ENST00000249806.9:c.792C=	ENSP00000249806.5:p.Ser264=
ENST00000538696.5:c.888C=	ENSP00000445770.1:p.Ser296=
ENST00000562767.1:c.84-10656C=	ENSP00000456336.1:n.84-10656C=
ENST00000565471.5:c.333C=	ENSP00000457384.1:p.Ser111=
ENST00000566347.5:c.603C=	ENSP00000457783.1:p.Ser201=
ENST00000567060.5:c.*190C=	ENSP00000454818.1:n.*190C=
NM_017882.2:c.792C=	NP_060352.1:p.Ser264=
NM_017882.3:c.792C= MANE Select	NP_060352.1:p.Ser264=