Canonical Allele Identifier: CA701023424

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1306013744
• MyVariant Identifiers: chr13:g.77570028_77570029del (hg19) ; chr13:g.76995893_76995894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995894_76995895del , CM000675.2:g.76995894_76995895del	GRCh38
NC_000013.10:g.77570029_77570030del , CM000675.1:g.77570029_77570030del	GRCh37
NC_000013.9:g.76468030_76468031del	NCBI36
NG_009064.1:g.8971_8972del , LRG_692:g.8971_8972del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.340-8_340-7del (CLN5) MANE Select	ENSP00000366673.5:n.340-8_340-7del
ENST00000485938.4:c.340-8_340-7del (CLN5)	ENSP00000482959.3:n.340-8_340-7del
ENST00000616833.6:c.340-8_340-7del (CLN5)	ENSP00000479547.3:n.340-8_340-7del
ENST00000635905.1:n.341-8_341-7del (CLN5)
ENST00000635915.1:c.330_331del (CLN5)
ENST00000635989.1:n.407-8_407-7del (CLN5)
ENST00000636183.2:c.340-8_340-7del (CLN5)	ENSP00000490181.2:n.340-8_340-7del
ENST00000636520.1:n.1844_1845del (CLN5)
ENST00000636525.2:c.340-8_340-7del (CLN5)	ENSP00000490078.2:n.340-8_340-7del
ENST00000636602.1:n.286-8_286-7del (CLN5)
ENST00000636681.1:c.*31-8_*31-7del (CLN5)	ENSP00000489922.1:n.*31-8_*31-7del
ENST00000636705.1:c.176-8_176-7del (CLN5)
ENST00000636767.2:c.340-8_340-7del (CLN5)	ENSP00000489855.2:n.340-8_340-7del
ENST00000636780.2:c.340-8_340-7del (CLN5)	ENSP00000489809.2:n.340-8_340-7del
ENST00000637278.1:n.658_659del (CLN5)
ENST00000637397.2:c.340-8_340-7del (CLN5)	ENSP00000490422.2:n.340-8_340-7del
ENST00000637537.2:c.340-8_340-7del (CLN5)	ENSP00000489711.2:n.340-8_340-7del
ENST00000638147.2:c.340-8_340-7del	ENSP00000490953.2:n.340-8_340-7del
ENST00000377453.7:c.487-8_487-7del (CLN5)	ENSP00000366673.3:n.487-8_487-7del
ENST00000485797.2:n.174-2943_174-2942del (FBXL3)
ENST00000485938.2:c.323-8_323-7del (CLN5)
ENST00000616833.4:c.340-8_340-7del (CLN5)	ENSP00000479547.1:n.340-8_340-7del
NM_006493.2:c.487-8_487-7del , LRG_692t1:c.487-8_487-7del (CLN5)	NP_006484.1:n.487-8_487-7del
XM_011534917.1:c.487-8_487-7del (CLN5)	XP_011533219.1:n.487-8_487-7del
NM_001366624.1:c.340-8_340-7del (CLN5)	NP_001353553.1:n.340-8_340-7del
NM_006493.3:c.340-8_340-7del (CLN5)	NP_006484.2:n.340-8_340-7del
XM_017020538.2:c.644-2943_644-2942del (FBXL3)	XP_016876027.1:n.644-2943_644-2942del
NM_001366624.2:c.340-8_340-7del (CLN5)	NP_001353553.1:n.340-8_340-7del
NM_006493.4:c.340-8_340-7del (CLN5) MANE Select	NP_006484.2:n.340-8_340-7del