Canonical Allele Identifier: CA2103435781

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000685G= , CM000675.2:g.77000685G=	GRCh38
NC_000013.10:g.77574820G= , CM000675.1:g.77574820G=	GRCh37
NC_000013.9:g.76472821G=	NCBI36
NG_009064.1:g.13762G= , LRG_692:g.13762G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.793G= (CLN5) MANE Select	ENSP00000366673.5:p.Glu265=
ENST00000616833.6:c.*235G= (CLN5)	ENSP00000479547.3:n.*235G=
ENST00000635838.1:c.174+4558G=
ENST00000635905.1:n.566+4558G= (CLN5)
ENST00000635915.1:c.791G= (CLN5)
ENST00000636183.2:c.793G= (CLN5)	ENSP00000490181.2:p.Glu265=
ENST00000636525.2:c.565+4558G= (CLN5)	ENSP00000490078.2:n.565+4558G=
ENST00000636681.1:c.*484G= (CLN5)	ENSP00000489922.1:n.*484G=
ENST00000636705.1:c.629G= (CLN5)
ENST00000636767.2:c.565+4558G= (CLN5)	ENSP00000489855.2:n.565+4558G=
ENST00000636780.2:c.*242G= (CLN5)	ENSP00000489809.2:n.*242G=
ENST00000637192.1:c.213+4558G=
ENST00000637278.1:n.1119G= (CLN5)
ENST00000637397.2:c.565+4558G= (CLN5)	ENSP00000490422.2:n.565+4558G=
ENST00000638101.1:c.169+4558G=	ENSP00000490535.1:n.169+4558G=
ENST00000638147.2:c.565+4558G=	ENSP00000490953.2:n.565+4558G=
ENST00000377453.7:c.940G= (CLN5)	ENSP00000366673.3:p.Glu314=
ENST00000477982.2:n.1624C= (FBXL3)
ENST00000485797.2:n.174-7734C= (FBXL3)
ENST00000616833.4:c.793G= (CLN5)	ENSP00000479547.1:p.Glu265=
NM_006493.2:c.940G= , LRG_692t1:c.940G= (CLN5)	NP_006484.1:p.Glu314=
XM_011534917.1:c.*242G= (CLN5)	XP_011533219.1:n.*242G=
NM_001366624.1:c.*242G= (CLN5)	NP_001353553.1:n.*242G=
NM_006493.3:c.793G= (CLN5)	NP_006484.2:p.Glu265=
XM_017020538.2:c.644-7734C= (FBXL3)	XP_016876027.1:n.644-7734C=
NM_001366624.2:c.*242G= (CLN5)	NP_001353553.1:n.*242G=
NM_006493.4:c.793G= (CLN5) MANE Select	NP_006484.2:p.Glu265=