Canonical Allele Identifier: CA2103437155

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001112C= , CM000675.2:g.77001112C=	GRCh38
NC_000013.10:g.77575247C= , CM000675.1:g.77575247C=	GRCh37
NC_000013.9:g.76473248C=	NCBI36
NG_009064.1:g.14189C= , LRG_692:g.14189C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*143C= (CLN5) MANE Select	ENSP00000366673.5:n.*143C=
ENST00000616833.6:c.*662C= (CLN5)	ENSP00000479547.3:n.*662C=
ENST00000635838.1:c.174+4985C=
ENST00000635905.1:n.566+4985C= (CLN5)
ENST00000635915.1:c.1218C= (CLN5)
ENST00000636183.2:c.*143C= (CLN5)	ENSP00000490181.2:n.*143C=
ENST00000636525.2:c.565+4985C= (CLN5)	ENSP00000490078.2:n.565+4985C=
ENST00000636681.1:c.*911C= (CLN5)	ENSP00000489922.1:n.*911C=
ENST00000636705.1:c.1056C= (CLN5)
ENST00000636767.2:c.565+4985C= (CLN5)	ENSP00000489855.2:n.565+4985C=
ENST00000636780.2:c.*669C= (CLN5)	ENSP00000489809.2:n.*669C=
ENST00000637192.1:c.213+4985C=
ENST00000637278.1:n.1546C= (CLN5)
ENST00000637397.2:c.565+4985C= (CLN5)	ENSP00000490422.2:n.565+4985C=
ENST00000638101.1:c.169+4985C=	ENSP00000490535.1:n.169+4985C=
ENST00000638147.2:c.565+4985C=	ENSP00000490953.2:n.565+4985C=
ENST00000377453.7:c.*143C= (CLN5)	ENSP00000366673.3:n.*143C=
ENST00000477982.2:n.1197G= (FBXL3)
ENST00000485797.2:n.174-8161G= (FBXL3)
ENST00000616833.4:c.*143C= (CLN5)	ENSP00000479547.1:n.*143C=
NM_006493.2:c.*143C= , LRG_692t1:c.*143C= (CLN5)	NP_006484.1:n.*143C=
NM_001366624.1:c.*669C= (CLN5)	NP_001353553.1:n.*669C=
NM_006493.3:c.*143C= (CLN5)	NP_006484.2:n.*143C=
XM_017020538.2:c.644-8161G= (FBXL3)	XP_016876027.1:n.644-8161G=
NM_001366624.2:c.*669C= (CLN5)	NP_001353553.1:n.*669C=
NM_006493.4:c.*143C= (CLN5) MANE Select	NP_006484.2:n.*143C=