Canonical Allele Identifier: CA2184877993

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208255G= , CM000677.2:g.68208255G=	GRCh38
NC_000015.9:g.68500593G= , CM000677.1:g.68500593G=	GRCh37
NC_000015.8:g.66287647G=	NCBI36
NG_008764.2:g.53957C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.821C= MANE Select	ENSP00000249806.5:p.Ala274=
ENST00000562767.2:c.84-10627C=	ENSP00000456336.1:n.84-10627C=
ENST00000565471.6:c.362C=	ENSP00000457384.1:p.Ala121=
ENST00000635747.1:c.*724C=	ENSP00000490627.1:n.*724C=
ENST00000636212.1:c.*491C=	ENSP00000489851.1:n.*491C=
ENST00000636674.1:n.1923C=
ENST00000636964.1:n.2349C=
ENST00000637054.1:c.198+10281C=	ENSP00000490807.1:n.198+10281C=
ENST00000637329.1:c.790C=
ENST00000637450.1:c.*475C=	ENSP00000490204.1:n.*475C=
ENST00000637494.1:c.533C=	ENSP00000490057.1:p.Ala178=
ENST00000637667.1:c.722C=	ENSP00000489843.1:p.Ala241=
ENST00000637823.1:c.646C=
ENST00000637888.1:c.198+10281C=	ENSP00000490546.1:n.198+10281C=
ENST00000638076.1:c.*424C=	ENSP00000490373.1:n.*424C=
ENST00000638144.1:n.464C=
ENST00000646164.1:c.39-8574C=
ENST00000249806.9:c.821C=	ENSP00000249806.5:p.Ala274=
ENST00000538696.5:c.917C=	ENSP00000445770.1:p.Ala306=
ENST00000562767.1:c.84-10627C=	ENSP00000456336.1:n.84-10627C=
ENST00000565471.5:c.362C=	ENSP00000457384.1:p.Ala121=
ENST00000566347.5:c.632C=	ENSP00000457783.1:p.Ala211=
ENST00000567060.5:c.*219C=	ENSP00000454818.1:n.*219C=
NM_017882.2:c.821C=	NP_060352.1:p.Ala274=
NM_017882.3:c.821C= MANE Select	NP_060352.1:p.Ala274=