Canonical Allele Identifier: CA2103436488

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000855_77000859delinsCTATT , CM000675.2:g.77000855_77000859delinsCTATT	GRCh38
NC_000013.10:g.77574990_77574994delinsCTATT , CM000675.1:g.77574990_77574994delinsCTATT	GRCh37
NC_000013.9:g.76472991_76472995delinsCTATT	NCBI36
NG_009064.1:g.13932_13936delinsCTATT , LRG_692:g.13932_13936delinsCTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.963_967delinsCTATT (CLN5) MANE Select	ENSP00000366673.5:p.Phe321=
ENST00000616833.6:c.*405_*409delinsCTATT (CLN5)	ENSP00000479547.3:n.*405_*409delinsCTATT
ENST00000635838.1:c.174+4728_174+4732delinsCTATT
ENST00000635905.1:n.566+4728_566+4732delinsCTATT (CLN5)
ENST00000635915.1:c.961_965delinsCTATT (CLN5)
ENST00000636183.2:c.963_967delinsCTATT (CLN5)	ENSP00000490181.2:p.Phe321=
ENST00000636525.2:c.565+4728_565+4732delinsCTATT (CLN5)	ENSP00000490078.2:n.565+4728_565+4732delinsCTATT
ENST00000636681.1:c.*654_*658delinsCTATT (CLN5)	ENSP00000489922.1:n.*654_*658delinsCTATT
ENST00000636705.1:c.799_803delinsCTATT (CLN5)
ENST00000636767.2:c.565+4728_565+4732delinsCTATT (CLN5)	ENSP00000489855.2:n.565+4728_565+4732delinsCTATT
ENST00000636780.2:c.*412_*416delinsCTATT (CLN5)	ENSP00000489809.2:n.*412_*416delinsCTATT
ENST00000637192.1:c.213+4728_213+4732delinsCTATT
ENST00000637278.1:n.1289_1293delinsCTATT (CLN5)
ENST00000637397.2:c.565+4728_565+4732delinsCTATT (CLN5)	ENSP00000490422.2:n.565+4728_565+4732delinsCTATT
ENST00000638101.1:c.169+4728_169+4732delinsCTATT	ENSP00000490535.1:n.169+4728_169+4732delinsCTATT
ENST00000638147.2:c.565+4728_565+4732delinsCTATT	ENSP00000490953.2:n.565+4728_565+4732delinsCTATT
ENST00000377453.7:c.1110_1114delinsCTATT (CLN5)	ENSP00000366673.3:p.Phe370=
ENST00000477982.2:n.1450_1454delinsAATAG (FBXL3)
ENST00000485797.2:n.174-7908_174-7904delinsAATAG (FBXL3)
ENST00000616833.4:c.963_967delinsCTATT (CLN5)	ENSP00000479547.1:p.Phe321=
NM_006493.2:c.1110_1114delinsCTATT , LRG_692t1:c.1110_1114delinsCTATT (CLN5)	NP_006484.1:p.Phe370=
NM_001366624.1:c.*412_*416delinsCTATT (CLN5)	NP_001353553.1:n.*412_*416delinsCTATT
NM_006493.3:c.963_967delinsCTATT (CLN5)	NP_006484.2:p.Phe321=
XM_017020538.2:c.644-7908_644-7904delinsAATAG (FBXL3)	XP_016876027.1:n.644-7908_644-7904delinsAATAG
NM_001366624.2:c.*412_*416delinsCTATT (CLN5)	NP_001353553.1:n.*412_*416delinsCTATT
NM_006493.4:c.963_967delinsCTATT (CLN5) MANE Select	NP_006484.2:p.Phe321=