Canonical Allele Identifier: CA2184878020

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208277C= , CM000677.2:g.68208277C=	GRCh38
NC_000015.9:g.68500615C= , CM000677.1:g.68500615C=	GRCh37
NC_000015.8:g.66287669C=	NCBI36
NG_008764.2:g.53935G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.799G= MANE Select	ENSP00000249806.5:p.Ala267=
ENST00000562767.2:c.84-10649G=	ENSP00000456336.1:n.84-10649G=
ENST00000565471.6:c.340G=	ENSP00000457384.1:p.Ala114=
ENST00000635747.1:c.*702G=	ENSP00000490627.1:n.*702G=
ENST00000636212.1:c.*469G=	ENSP00000489851.1:n.*469G=
ENST00000636674.1:n.1901G=
ENST00000636964.1:n.2327G=
ENST00000637054.1:c.198+10259G=	ENSP00000490807.1:n.198+10259G=
ENST00000637329.1:c.768G=
ENST00000637450.1:c.*453G=	ENSP00000490204.1:n.*453G=
ENST00000637494.1:c.511G=	ENSP00000490057.1:p.Ala171=
ENST00000637667.1:c.700G=	ENSP00000489843.1:p.Ala234=
ENST00000637823.1:c.624G=
ENST00000637888.1:c.198+10259G=	ENSP00000490546.1:n.198+10259G=
ENST00000638076.1:c.*402G=	ENSP00000490373.1:n.*402G=
ENST00000638144.1:n.442G=
ENST00000646164.1:c.39-8596G=
ENST00000249806.9:c.799G=	ENSP00000249806.5:p.Ala267=
ENST00000538696.5:c.895G=	ENSP00000445770.1:p.Ala299=
ENST00000562767.1:c.84-10649G=	ENSP00000456336.1:n.84-10649G=
ENST00000565471.5:c.340G=	ENSP00000457384.1:p.Ala114=
ENST00000566347.5:c.610G=	ENSP00000457783.1:p.Ala204=
ENST00000567060.5:c.*197G=	ENSP00000454818.1:n.*197G=
NM_017882.2:c.799G=	NP_060352.1:p.Ala267=
NM_017882.3:c.799G= MANE Select	NP_060352.1:p.Ala267=