Canonical Allele Identifier: CA2184878017

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208276G= , CM000677.2:g.68208276G=	GRCh38
NC_000015.9:g.68500614G= , CM000677.1:g.68500614G=	GRCh37
NC_000015.8:g.66287668G=	NCBI36
NG_008764.2:g.53936C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.800C= MANE Select	ENSP00000249806.5:p.Ala267=
ENST00000562767.2:c.84-10648C=	ENSP00000456336.1:n.84-10648C=
ENST00000565471.6:c.341C=	ENSP00000457384.1:p.Ala114=
ENST00000635747.1:c.*703C=	ENSP00000490627.1:n.*703C=
ENST00000636212.1:c.*470C=	ENSP00000489851.1:n.*470C=
ENST00000636674.1:n.1902C=
ENST00000636964.1:n.2328C=
ENST00000637054.1:c.198+10260C=	ENSP00000490807.1:n.198+10260C=
ENST00000637329.1:c.769C=
ENST00000637450.1:c.*454C=	ENSP00000490204.1:n.*454C=
ENST00000637494.1:c.512C=	ENSP00000490057.1:p.Ala171=
ENST00000637667.1:c.701C=	ENSP00000489843.1:p.Ala234=
ENST00000637823.1:c.625C=
ENST00000637888.1:c.198+10260C=	ENSP00000490546.1:n.198+10260C=
ENST00000638076.1:c.*403C=	ENSP00000490373.1:n.*403C=
ENST00000638144.1:n.443C=
ENST00000646164.1:c.39-8595C=
ENST00000249806.9:c.800C=	ENSP00000249806.5:p.Ala267=
ENST00000538696.5:c.896C=	ENSP00000445770.1:p.Ala299=
ENST00000562767.1:c.84-10648C=	ENSP00000456336.1:n.84-10648C=
ENST00000565471.5:c.341C=	ENSP00000457384.1:p.Ala114=
ENST00000566347.5:c.611C=	ENSP00000457783.1:p.Ala204=
ENST00000567060.5:c.*198C=	ENSP00000454818.1:n.*198C=
NM_017882.2:c.800C=	NP_060352.1:p.Ala267=
NM_017882.3:c.800C= MANE Select	NP_060352.1:p.Ala267=