Canonical Allele Identifier: CA2799793715

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000859_77000865del , CM000675.2:g.77000859_77000865del	GRCh38
NC_000013.10:g.77574994_77575000del , CM000675.1:g.77574994_77575000del	GRCh37
NC_000013.9:g.76472995_76473001del	NCBI36
NG_009064.1:g.13936_13942del , LRG_692:g.13936_13942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.967_973del (CLN5) MANE Select	ENSP00000366673.5:p.Leu323IlefsTer10
ENST00000616833.6:c.*409_*415del (CLN5)	ENSP00000479547.3:n.*409_*415del
ENST00000635838.1:c.174+4732_174+4738del
ENST00000635905.1:n.566+4732_566+4738del (CLN5)
ENST00000635915.1:c.965_971del (CLN5)
ENST00000636183.2:c.967_973del (CLN5)	ENSP00000490181.2:p.Leu323IlefsTer10
ENST00000636525.2:c.565+4732_565+4738del (CLN5)	ENSP00000490078.2:n.565+4732_565+4738del
ENST00000636681.1:c.*658_*664del (CLN5)	ENSP00000489922.1:n.*658_*664del
ENST00000636705.1:c.803_809del (CLN5)
ENST00000636767.2:c.565+4732_565+4738del (CLN5)	ENSP00000489855.2:n.565+4732_565+4738del
ENST00000636780.2:c.*416_*422del (CLN5)	ENSP00000489809.2:n.*416_*422del
ENST00000637192.1:c.213+4732_213+4738del
ENST00000637278.1:n.1293_1299del (CLN5)
ENST00000637397.2:c.565+4732_565+4738del (CLN5)	ENSP00000490422.2:n.565+4732_565+4738del
ENST00000638101.1:c.169+4732_169+4738del	ENSP00000490535.1:n.169+4732_169+4738del
ENST00000638147.2:c.565+4732_565+4738del	ENSP00000490953.2:n.565+4732_565+4738del
ENST00000377453.7:c.1114_1120del (CLN5)	ENSP00000366673.3:p.Leu372IlefsTer10
ENST00000477982.2:n.1445_1451del (FBXL3)
ENST00000485797.2:n.174-7913_174-7907del (FBXL3)
ENST00000616833.4:c.967_973del (CLN5)	ENSP00000479547.1:p.Leu323IlefsTer10
NM_006493.2:c.1114_1120del , LRG_692t1:c.1114_1120del (CLN5)	NP_006484.1:p.Leu372IlefsTer10
NM_001366624.1:c.*416_*422del (CLN5)	NP_001353553.1:n.*416_*422del
NM_006493.3:c.967_973del (CLN5)	NP_006484.2:p.Leu323IlefsTer10
XM_017020538.2:c.644-7913_644-7907del (FBXL3)	XP_016876027.1:n.644-7913_644-7907del
NM_001366624.2:c.*416_*422del (CLN5)	NP_001353553.1:n.*416_*422del
NM_006493.4:c.967_973del (CLN5) MANE Select	NP_006484.2:p.Leu323IlefsTer10