Canonical Allele Identifier: CA2103434477

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000259_77000263delinsCCTGT , CM000675.2:g.77000259_77000263delinsCCTGT	GRCh38
NC_000013.10:g.77574394_77574398delinsCCTGT , CM000675.1:g.77574394_77574398delinsCCTGT	GRCh37
NC_000013.9:g.76472395_76472399delinsCCTGT	NCBI36
NG_009064.1:g.13336_13340delinsCCTGT , LRG_692:g.13336_13340delinsCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-199_566-195delinsCCTGT (CLN5) MANE Select	ENSP00000366673.5:n.566-199_566-195delinsCCTGT
ENST00000616833.6:c.*8-199_*8-195delinsCCTGT (CLN5)	ENSP00000479547.3:n.*8-199_*8-195delinsCCTGT
ENST00000635761.1:n.425_429delinsCCTGT (CLN5)
ENST00000635838.1:c.174+4132_174+4136delinsCCTGT
ENST00000635905.1:n.566+4132_566+4136delinsCCTGT (CLN5)
ENST00000635915.1:c.564-199_564-195delinsCCTGT (CLN5)
ENST00000636183.2:c.566-199_566-195delinsCCTGT (CLN5)	ENSP00000490181.2:n.566-199_566-195delinsCCTGT
ENST00000636525.2:c.565+4132_565+4136delinsCCTGT (CLN5)	ENSP00000490078.2:n.565+4132_565+4136delinsCCTGT
ENST00000636681.1:c.*257-199_*257-195delinsCCTGT (CLN5)	ENSP00000489922.1:n.*257-199_*257-195delinsCCTGT
ENST00000636705.1:c.402-199_402-195delinsCCTGT (CLN5)
ENST00000636767.2:c.565+4132_565+4136delinsCCTGT (CLN5)	ENSP00000489855.2:n.565+4132_565+4136delinsCCTGT
ENST00000636780.2:c.*15-199_*15-195delinsCCTGT (CLN5)	ENSP00000489809.2:n.*15-199_*15-195delinsCCTGT
ENST00000637192.1:c.213+4132_213+4136delinsCCTGT
ENST00000637278.1:n.892-199_892-195delinsCCTGT (CLN5)
ENST00000637397.2:c.565+4132_565+4136delinsCCTGT (CLN5)	ENSP00000490422.2:n.565+4132_565+4136delinsCCTGT
ENST00000638101.1:c.169+4132_169+4136delinsCCTGT	ENSP00000490535.1:n.169+4132_169+4136delinsCCTGT
ENST00000638147.2:c.565+4132_565+4136delinsCCTGT	ENSP00000490953.2:n.565+4132_565+4136delinsCCTGT
ENST00000377453.7:c.713-199_713-195delinsCCTGT (CLN5)	ENSP00000366673.3:n.713-199_713-195delinsCCTGT
ENST00000477982.2:n.2046_2050delinsACAGG (FBXL3)
ENST00000485797.2:n.174-7312_174-7308delinsACAGG (FBXL3)
ENST00000616833.4:c.566-199_566-195delinsCCTGT (CLN5)	ENSP00000479547.1:n.566-199_566-195delinsCCTGT
NM_006493.2:c.713-199_713-195delinsCCTGT , LRG_692t1:c.713-199_713-195delinsCCTGT (CLN5)	NP_006484.1:n.713-199_713-195delinsCCTGT
XM_011534917.1:c.*15-199_*15-195delinsCCTGT (CLN5)	XP_011533219.1:n.*15-199_*15-195delinsCCTGT
NM_001366624.1:c.*15-199_*15-195delinsCCTGT (CLN5)	NP_001353553.1:n.*15-199_*15-195delinsCCTGT
NM_006493.3:c.566-199_566-195delinsCCTGT (CLN5)	NP_006484.2:n.566-199_566-195delinsCCTGT
XM_017020538.2:c.644-7312_644-7308delinsACAGG (FBXL3)	XP_016876027.1:n.644-7312_644-7308delinsACAGG
NM_001366624.2:c.*15-199_*15-195delinsCCTGT (CLN5)	NP_001353553.1:n.*15-199_*15-195delinsCCTGT
NM_006493.4:c.566-199_566-195delinsCCTGT (CLN5) MANE Select	NP_006484.2:n.566-199_566-195delinsCCTGT