Canonical Allele Identifier: CA2184877983

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208254C= , CM000677.2:g.68208254C=	GRCh38
NC_000015.9:g.68500592C= , CM000677.1:g.68500592C=	GRCh37
NC_000015.8:g.66287646C=	NCBI36
NG_008764.2:g.53958G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.822G= MANE Select	ENSP00000249806.5:p.Ala274=
ENST00000562767.2:c.84-10626G=	ENSP00000456336.1:n.84-10626G=
ENST00000565471.6:c.363G=	ENSP00000457384.1:p.Ala121=
ENST00000635747.1:c.*725G=	ENSP00000490627.1:n.*725G=
ENST00000636212.1:c.*492G=	ENSP00000489851.1:n.*492G=
ENST00000636674.1:n.1924G=
ENST00000636964.1:n.2350G=
ENST00000637054.1:c.198+10282G=	ENSP00000490807.1:n.198+10282G=
ENST00000637329.1:c.791G=
ENST00000637450.1:c.*476G=	ENSP00000490204.1:n.*476G=
ENST00000637494.1:c.534G=	ENSP00000490057.1:p.Ala178=
ENST00000637667.1:c.723G=	ENSP00000489843.1:p.Ala241=
ENST00000637823.1:c.647G=
ENST00000637888.1:c.198+10282G=	ENSP00000490546.1:n.198+10282G=
ENST00000638076.1:c.*425G=	ENSP00000490373.1:n.*425G=
ENST00000638144.1:n.465G=
ENST00000646164.1:c.39-8573G=
ENST00000249806.9:c.822G=	ENSP00000249806.5:p.Ala274=
ENST00000538696.5:c.918G=	ENSP00000445770.1:p.Ala306=
ENST00000562767.1:c.84-10626G=	ENSP00000456336.1:n.84-10626G=
ENST00000565471.5:c.363G=	ENSP00000457384.1:p.Ala121=
ENST00000566347.5:c.633G=	ENSP00000457783.1:p.Ala211=
ENST00000567060.5:c.*220G=	ENSP00000454818.1:n.*220G=
NM_017882.2:c.822G=	NP_060352.1:p.Ala274=
NM_017882.3:c.822G= MANE Select	NP_060352.1:p.Ala274=