Canonical Allele Identifier: CA2103437331

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001194A= , CM000675.2:g.77001194A=	GRCh38
NC_000013.10:g.77575329A= , CM000675.1:g.77575329A=	GRCh37
NC_000013.9:g.76473330A=	NCBI36
NG_009064.1:g.14271A= , LRG_692:g.14271A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*225A= (CLN5) MANE Select	ENSP00000366673.5:n.*225A=
ENST00000616833.6:c.*744A= (CLN5)	ENSP00000479547.3:n.*744A=
ENST00000635838.1:c.174+5067A=
ENST00000635905.1:n.566+5067A= (CLN5)
ENST00000635915.1:c.1300A= (CLN5)
ENST00000636183.2:c.*225A= (CLN5)	ENSP00000490181.2:n.*225A=
ENST00000636525.2:c.565+5067A= (CLN5)	ENSP00000490078.2:n.565+5067A=
ENST00000636681.1:c.*993A= (CLN5)	ENSP00000489922.1:n.*993A=
ENST00000636705.1:c.1138A= (CLN5)
ENST00000636767.2:c.565+5067A= (CLN5)	ENSP00000489855.2:n.565+5067A=
ENST00000636780.2:c.*751A= (CLN5)	ENSP00000489809.2:n.*751A=
ENST00000637192.1:c.213+5067A=
ENST00000637278.1:n.1628A= (CLN5)
ENST00000637397.2:c.565+5067A= (CLN5)	ENSP00000490422.2:n.565+5067A=
ENST00000638101.1:c.169+5067A=	ENSP00000490535.1:n.169+5067A=
ENST00000638147.2:c.565+5067A=	ENSP00000490953.2:n.565+5067A=
ENST00000377453.7:c.*225A= (CLN5)	ENSP00000366673.3:n.*225A=
ENST00000477982.2:n.1115T= (FBXL3)
ENST00000485797.2:n.174-8243T= (FBXL3)
ENST00000616833.4:c.*225A= (CLN5)	ENSP00000479547.1:n.*225A=
NM_006493.2:c.*225A= , LRG_692t1:c.*225A= (CLN5)	NP_006484.1:n.*225A=
NM_001366624.1:c.*751A= (CLN5)	NP_001353553.1:n.*751A=
NM_006493.3:c.*225A= (CLN5)	NP_006484.2:n.*225A=
XM_017020538.2:c.644-8243T= (FBXL3)	XP_016876027.1:n.644-8243T=
NM_001366624.2:c.*751A= (CLN5)	NP_001353553.1:n.*751A=
NM_006493.4:c.*225A= (CLN5) MANE Select	NP_006484.2:n.*225A=