Canonical Allele Identifier: CA2103435538

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000624A= , CM000675.2:g.77000624A=	GRCh38
NC_000013.10:g.77574759A= , CM000675.1:g.77574759A=	GRCh37
NC_000013.9:g.76472760A=	NCBI36
NG_009064.1:g.13701A= , LRG_692:g.13701A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.732A= (CLN5) MANE Select	ENSP00000366673.5:p.Glu244=
ENST00000616833.6:c.*174A= (CLN5)	ENSP00000479547.3:n.*174A=
ENST00000635838.1:c.174+4497A=
ENST00000635905.1:n.566+4497A= (CLN5)
ENST00000635915.1:c.730A= (CLN5)
ENST00000636183.2:c.732A= (CLN5)	ENSP00000490181.2:p.Glu244=
ENST00000636525.2:c.565+4497A= (CLN5)	ENSP00000490078.2:n.565+4497A=
ENST00000636681.1:c.*423A= (CLN5)	ENSP00000489922.1:n.*423A=
ENST00000636705.1:c.568A= (CLN5)
ENST00000636767.2:c.565+4497A= (CLN5)	ENSP00000489855.2:n.565+4497A=
ENST00000636780.2:c.*181A= (CLN5)	ENSP00000489809.2:n.*181A=
ENST00000637192.1:c.213+4497A=
ENST00000637278.1:n.1058A= (CLN5)
ENST00000637397.2:c.565+4497A= (CLN5)	ENSP00000490422.2:n.565+4497A=
ENST00000638101.1:c.169+4497A=	ENSP00000490535.1:n.169+4497A=
ENST00000638147.2:c.565+4497A=	ENSP00000490953.2:n.565+4497A=
ENST00000377453.7:c.879A= (CLN5)	ENSP00000366673.3:p.Glu293=
ENST00000477982.2:n.1685T= (FBXL3)
ENST00000485797.2:n.174-7673T= (FBXL3)
ENST00000616833.4:c.732A= (CLN5)	ENSP00000479547.1:p.Glu244=
NM_006493.2:c.879A= , LRG_692t1:c.879A= (CLN5)	NP_006484.1:p.Glu293=
XM_011534917.1:c.*181A= (CLN5)	XP_011533219.1:n.*181A=
NM_001366624.1:c.*181A= (CLN5)	NP_001353553.1:n.*181A=
NM_006493.3:c.732A= (CLN5)	NP_006484.2:p.Glu244=
XM_017020538.2:c.644-7673T= (FBXL3)	XP_016876027.1:n.644-7673T=
NM_001366624.2:c.*181A= (CLN5)	NP_001353553.1:n.*181A=
NM_006493.4:c.732A= (CLN5) MANE Select	NP_006484.2:p.Glu244=