Canonical Allele Identifier: CA2184878233

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208356G= , CM000677.2:g.68208356G=	GRCh38
NC_000015.9:g.68500694G= , CM000677.1:g.68500694G=	GRCh37
NC_000015.8:g.66287748G=	NCBI36
NG_008764.2:g.53856C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.720C= MANE Select	ENSP00000249806.5:p.Ala240=
ENST00000562767.2:c.84-10728C=	ENSP00000456336.1:n.84-10728C=
ENST00000565471.6:c.261C=	ENSP00000457384.1:p.Ala87=
ENST00000635747.1:c.*623C=	ENSP00000490627.1:n.*623C=
ENST00000636212.1:c.*390C=	ENSP00000489851.1:n.*390C=
ENST00000636674.1:n.1822C=
ENST00000636964.1:n.2248C=
ENST00000637054.1:c.198+10180C=	ENSP00000490807.1:n.198+10180C=
ENST00000637329.1:c.689C=
ENST00000637450.1:c.*374C=	ENSP00000490204.1:n.*374C=
ENST00000637494.1:c.432C=	ENSP00000490057.1:p.Ala144=
ENST00000637667.1:c.621C=	ENSP00000489843.1:p.Ala207=
ENST00000637823.1:c.545C=
ENST00000637888.1:c.198+10180C=	ENSP00000490546.1:n.198+10180C=
ENST00000638076.1:c.*323C=	ENSP00000490373.1:n.*323C=
ENST00000638144.1:n.363C=
ENST00000646164.1:c.39-8675C=
ENST00000249806.9:c.720C=	ENSP00000249806.5:p.Ala240=
ENST00000538696.5:c.816C=	ENSP00000445770.1:p.Ala272=
ENST00000562767.1:c.84-10728C=	ENSP00000456336.1:n.84-10728C=
ENST00000564752.1:c.*104C=	ENSP00000457822.1:n.*104C=
ENST00000565471.5:c.261C=	ENSP00000457384.1:p.Ala87=
ENST00000566347.5:c.531C=	ENSP00000457783.1:p.Ala177=
ENST00000567060.5:c.*118C=	ENSP00000454818.1:n.*118C=
NM_017882.2:c.720C=	NP_060352.1:p.Ala240=
NM_017882.3:c.720C= MANE Select	NP_060352.1:p.Ala240=