Canonical Allele Identifier: CA2103436429

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1093126
• ClinVar RCV Id: RCV001413204 ; RCV001638088
• dbSNP Id: rs2034348880

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000847_77000848delinsCG , CM000675.2:g.77000847_77000848delinsCG	GRCh38
NC_000013.10:g.77574982_77574983delinsCG , CM000675.1:g.77574982_77574983delinsCG	GRCh37
NC_000013.9:g.76472983_76472984delinsCG	NCBI36
NG_009064.1:g.13924_13925delinsCG , LRG_692:g.13924_13925delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.955_956delinsCG (CLN5) MANE Select	ENSP00000366673.5:p.Lys319Arg
ENST00000616833.6:c.*397_*398delinsCG (CLN5)	ENSP00000479547.3:n.*397_*398delinsCG
ENST00000635838.1:c.174+4720_174+4721delinsCG
ENST00000635905.1:n.566+4720_566+4721delinsCG (CLN5)
ENST00000635915.1:c.953_954delinsCG (CLN5)
ENST00000636183.2:c.955_956delinsCG (CLN5)	ENSP00000490181.2:p.Lys319Arg
ENST00000636525.2:c.565+4720_565+4721delinsCG (CLN5)	ENSP00000490078.2:n.565+4720_565+4721delinsCG
ENST00000636681.1:c.*646_*647delinsCG (CLN5)	ENSP00000489922.1:n.*646_*647delinsCG
ENST00000636705.1:c.791_792delinsCG (CLN5)
ENST00000636767.2:c.565+4720_565+4721delinsCG (CLN5)	ENSP00000489855.2:n.565+4720_565+4721delinsCG
ENST00000636780.2:c.*404_*405delinsCG (CLN5)	ENSP00000489809.2:n.*404_*405delinsCG
ENST00000637192.1:c.213+4720_213+4721delinsCG
ENST00000637278.1:n.1281_1282delinsCG (CLN5)
ENST00000637397.2:c.565+4720_565+4721delinsCG (CLN5)	ENSP00000490422.2:n.565+4720_565+4721delinsCG
ENST00000638101.1:c.169+4720_169+4721delinsCG	ENSP00000490535.1:n.169+4720_169+4721delinsCG
ENST00000638147.2:c.565+4720_565+4721delinsCG	ENSP00000490953.2:n.565+4720_565+4721delinsCG
ENST00000377453.7:c.1102_1103delinsCG (CLN5)	ENSP00000366673.3:p.Lys368Arg
ENST00000477982.2:n.1461_1462delinsCG (FBXL3)
ENST00000485797.2:n.174-7897_174-7896delinsCG (FBXL3)
ENST00000616833.4:c.955_956delinsCG (CLN5)	ENSP00000479547.1:p.Lys319Arg
NM_006493.2:c.1102_1103delinsCG , LRG_692t1:c.1102_1103delinsCG (CLN5)	NP_006484.1:p.Lys368Arg
NM_001366624.1:c.*404_*405delinsCG (CLN5)	NP_001353553.1:n.*404_*405delinsCG
NM_006493.3:c.955_956delinsCG (CLN5)	NP_006484.2:p.Lys319Arg
XM_017020538.2:c.644-7897_644-7896delinsCG (FBXL3)	XP_016876027.1:n.644-7897_644-7896delinsCG
NM_001366624.2:c.*404_*405delinsCG (CLN5)	NP_001353553.1:n.*404_*405delinsCG
NM_006493.4:c.955_956delinsCG (CLN5) MANE Select	NP_006484.2:p.Lys319Arg