Canonical Allele Identifier: CA2184877835

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208187G= , CM000677.2:g.68208187G=	GRCh38
NC_000015.9:g.68500525G= , CM000677.1:g.68500525G=	GRCh37
NC_000015.8:g.66287579G=	NCBI36
NG_008764.2:g.54025C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.889C= MANE Select	ENSP00000249806.5:p.Pro297=
ENST00000562767.2:c.84-10559C=	ENSP00000456336.1:n.84-10559C=
ENST00000565471.6:c.430C=	ENSP00000457384.1:p.Pro144=
ENST00000635747.1:c.*792C=	ENSP00000490627.1:n.*792C=
ENST00000636212.1:c.*559C=	ENSP00000489851.1:n.*559C=
ENST00000636674.1:n.1991C=
ENST00000636964.1:n.2417C=
ENST00000637054.1:c.198+10349C=	ENSP00000490807.1:n.198+10349C=
ENST00000637329.1:c.858C=
ENST00000637450.1:c.*543C=	ENSP00000490204.1:n.*543C=
ENST00000637494.1:c.601C=	ENSP00000490057.1:p.Pro201=
ENST00000637823.1:c.714C=
ENST00000637888.1:c.198+10349C=	ENSP00000490546.1:n.198+10349C=
ENST00000638076.1:c.*492C=	ENSP00000490373.1:n.*492C=
ENST00000638144.1:n.532C=
ENST00000646164.1:c.39-8506C=
ENST00000249806.9:c.889C=	ENSP00000249806.5:p.Pro297=
ENST00000538696.5:c.985C=	ENSP00000445770.1:p.Pro329=
ENST00000562767.1:c.84-10559C=	ENSP00000456336.1:n.84-10559C=
ENST00000565471.5:c.430C=	ENSP00000457384.1:p.Pro144=
ENST00000566347.5:c.700C=	ENSP00000457783.1:p.Pro234=
ENST00000567060.5:c.*287C=	ENSP00000454818.1:n.*287C=
NM_017882.2:c.889C=	NP_060352.1:p.Pro297=
NM_017882.3:c.889C= MANE Select	NP_060352.1:p.Pro297=