Canonical Allele Identifier: CA2103437500

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001263_77001264delinsGT , CM000675.2:g.77001263_77001264delinsGT	GRCh38
NC_000013.10:g.77575398_77575399delinsGT , CM000675.1:g.77575398_77575399delinsGT	GRCh37
NC_000013.9:g.76473399_76473400delinsGT	NCBI36
NG_009064.1:g.14340_14341delinsGT , LRG_692:g.14340_14341delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*294_*295delinsGT (CLN5) MANE Select	ENSP00000366673.5:n.*294_*295delinsGT
ENST00000616833.6:c.*813_*814delinsGT (CLN5)	ENSP00000479547.3:n.*813_*814delinsGT
ENST00000635838.1:c.174+5136_174+5137delinsGT
ENST00000635905.1:n.566+5136_566+5137delinsGT (CLN5)
ENST00000635915.1:c.1369_1370delinsGT (CLN5)
ENST00000636183.2:c.*294_*295delinsGT (CLN5)	ENSP00000490181.2:n.*294_*295delinsGT
ENST00000636525.2:c.565+5136_565+5137delinsGT (CLN5)	ENSP00000490078.2:n.565+5136_565+5137delinsGT
ENST00000636681.1:c.*1062_*1063delinsGT (CLN5)	ENSP00000489922.1:n.*1062_*1063delinsGT
ENST00000636705.1:c.1207_1208delinsGT (CLN5)
ENST00000636767.2:c.565+5136_565+5137delinsGT (CLN5)	ENSP00000489855.2:n.565+5136_565+5137delinsGT
ENST00000636780.2:c.*820_*821delinsGT (CLN5)	ENSP00000489809.2:n.*820_*821delinsGT
ENST00000637192.1:c.213+5136_213+5137delinsGT
ENST00000637278.1:n.1697_1698delinsGT (CLN5)
ENST00000637397.2:c.565+5136_565+5137delinsGT (CLN5)	ENSP00000490422.2:n.565+5136_565+5137delinsGT
ENST00000638101.1:c.169+5136_169+5137delinsGT	ENSP00000490535.1:n.169+5136_169+5137delinsGT
ENST00000638147.2:c.565+5136_565+5137delinsGT	ENSP00000490953.2:n.565+5136_565+5137delinsGT
ENST00000377453.7:c.*294_*295delinsGT (CLN5)	ENSP00000366673.3:n.*294_*295delinsGT
ENST00000477982.2:n.1045_1046delinsAC (FBXL3)
ENST00000485797.2:n.174-8313_174-8312delinsAC (FBXL3)
ENST00000616833.4:c.*294_*295delinsGT (CLN5)	ENSP00000479547.1:n.*294_*295delinsGT
NM_006493.2:c.*294_*295delinsGT , LRG_692t1:c.*294_*295delinsGT (CLN5)	NP_006484.1:n.*294_*295delinsGT
NM_001366624.1:c.*820_*821delinsGT (CLN5)	NP_001353553.1:n.*820_*821delinsGT
NM_006493.3:c.*294_*295delinsGT (CLN5)	NP_006484.2:n.*294_*295delinsGT
XM_017020538.2:c.644-8313_644-8312delinsAC (FBXL3)	XP_016876027.1:n.644-8313_644-8312delinsAC
NM_001366624.2:c.*820_*821delinsGT (CLN5)	NP_001353553.1:n.*820_*821delinsGT
NM_006493.4:c.*294_*295delinsGT (CLN5) MANE Select	NP_006484.2:n.*294_*295delinsGT