Canonical Allele Identifier: CA2623305223

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001229-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001229_77001230insG , CM000675.2:g.77001229_77001230insG	GRCh38
NC_000013.10:g.77575364_77575365insG , CM000675.1:g.77575364_77575365insG	GRCh37
NC_000013.9:g.76473365_76473366insG	NCBI36
NG_009064.1:g.14306_14307insG , LRG_692:g.14306_14307insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*260_*261insG (CLN5) MANE Select	ENSP00000366673.5:n.*260_*261insG
ENST00000616833.6:c.*779_*780insG (CLN5)	ENSP00000479547.3:n.*779_*780insG
ENST00000635838.1:c.174+5102_174+5103insG
ENST00000635905.1:n.566+5102_566+5103insG (CLN5)
ENST00000635915.1:c.1335_1336insG (CLN5)
ENST00000636183.2:c.*260_*261insG (CLN5)	ENSP00000490181.2:n.*260_*261insG
ENST00000636525.2:c.565+5102_565+5103insG (CLN5)	ENSP00000490078.2:n.565+5102_565+5103insG
ENST00000636681.1:c.*1028_*1029insG (CLN5)	ENSP00000489922.1:n.*1028_*1029insG
ENST00000636705.1:c.1173_1174insG (CLN5)
ENST00000636767.2:c.565+5102_565+5103insG (CLN5)	ENSP00000489855.2:n.565+5102_565+5103insG
ENST00000636780.2:c.*786_*787insG (CLN5)	ENSP00000489809.2:n.*786_*787insG
ENST00000637192.1:c.213+5102_213+5103insG
ENST00000637278.1:n.1663_1664insG (CLN5)
ENST00000637397.2:c.565+5102_565+5103insG (CLN5)	ENSP00000490422.2:n.565+5102_565+5103insG
ENST00000638101.1:c.169+5102_169+5103insG	ENSP00000490535.1:n.169+5102_169+5103insG
ENST00000638147.2:c.565+5102_565+5103insG	ENSP00000490953.2:n.565+5102_565+5103insG
ENST00000377453.7:c.*260_*261insG (CLN5)	ENSP00000366673.3:n.*260_*261insG
ENST00000477982.2:n.1079_1080insC (FBXL3)
ENST00000485797.2:n.174-8279_174-8278insC (FBXL3)
ENST00000616833.4:c.*260_*261insG (CLN5)	ENSP00000479547.1:n.*260_*261insG
NM_006493.2:c.*260_*261insG , LRG_692t1:c.*260_*261insG (CLN5)	NP_006484.1:n.*260_*261insG
NM_001366624.1:c.*786_*787insG (CLN5)	NP_001353553.1:n.*786_*787insG
NM_006493.3:c.*260_*261insG (CLN5)	NP_006484.2:n.*260_*261insG
XM_017020538.2:c.644-8279_644-8278insC (FBXL3)	XP_016876027.1:n.644-8279_644-8278insC
NM_001366624.2:c.*786_*787insG (CLN5)	NP_001353553.1:n.*786_*787insG
NM_006493.4:c.*260_*261insG (CLN5) MANE Select	NP_006484.2:n.*260_*261insG