Canonical Allele Identifier: CA2623305222

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001228-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001228_77001229insC , CM000675.2:g.77001228_77001229insC	GRCh38
NC_000013.10:g.77575363_77575364insC , CM000675.1:g.77575363_77575364insC	GRCh37
NC_000013.9:g.76473364_76473365insC	NCBI36
NG_009064.1:g.14305_14306insC , LRG_692:g.14305_14306insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*259_*260insC (CLN5) MANE Select	ENSP00000366673.5:n.*259_*260insC
ENST00000616833.6:c.*778_*779insC (CLN5)	ENSP00000479547.3:n.*778_*779insC
ENST00000635838.1:c.174+5101_174+5102insC
ENST00000635905.1:n.566+5101_566+5102insC (CLN5)
ENST00000635915.1:c.1334_1335insC (CLN5)
ENST00000636183.2:c.*259_*260insC (CLN5)	ENSP00000490181.2:n.*259_*260insC
ENST00000636525.2:c.565+5101_565+5102insC (CLN5)	ENSP00000490078.2:n.565+5101_565+5102insC
ENST00000636681.1:c.*1027_*1028insC (CLN5)	ENSP00000489922.1:n.*1027_*1028insC
ENST00000636705.1:c.1172_1173insC (CLN5)
ENST00000636767.2:c.565+5101_565+5102insC (CLN5)	ENSP00000489855.2:n.565+5101_565+5102insC
ENST00000636780.2:c.*785_*786insC (CLN5)	ENSP00000489809.2:n.*785_*786insC
ENST00000637192.1:c.213+5101_213+5102insC
ENST00000637278.1:n.1662_1663insC (CLN5)
ENST00000637397.2:c.565+5101_565+5102insC (CLN5)	ENSP00000490422.2:n.565+5101_565+5102insC
ENST00000638101.1:c.169+5101_169+5102insC	ENSP00000490535.1:n.169+5101_169+5102insC
ENST00000638147.2:c.565+5101_565+5102insC	ENSP00000490953.2:n.565+5101_565+5102insC
ENST00000377453.7:c.*259_*260insC (CLN5)	ENSP00000366673.3:n.*259_*260insC
ENST00000477982.2:n.1080_1081insG (FBXL3)
ENST00000485797.2:n.174-8278_174-8277insG (FBXL3)
ENST00000616833.4:c.*259_*260insC (CLN5)	ENSP00000479547.1:n.*259_*260insC
NM_006493.2:c.*259_*260insC , LRG_692t1:c.*259_*260insC (CLN5)	NP_006484.1:n.*259_*260insC
NM_001366624.1:c.*785_*786insC (CLN5)	NP_001353553.1:n.*785_*786insC
NM_006493.3:c.*259_*260insC (CLN5)	NP_006484.2:n.*259_*260insC
XM_017020538.2:c.644-8278_644-8277insG (FBXL3)	XP_016876027.1:n.644-8278_644-8277insG
NM_001366624.2:c.*785_*786insC (CLN5)	NP_001353553.1:n.*785_*786insC
NM_006493.4:c.*259_*260insC (CLN5) MANE Select	NP_006484.2:n.*259_*260insC