Canonical Allele Identifier: CA2103436506

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000857_77000861delinsATTTG , CM000675.2:g.77000857_77000861delinsATTTG	GRCh38
NC_000013.10:g.77574992_77574996delinsATTTG , CM000675.1:g.77574992_77574996delinsATTTG	GRCh37
NC_000013.9:g.76472993_76472997delinsATTTG	NCBI36
NG_009064.1:g.13934_13938delinsATTTG , LRG_692:g.13934_13938delinsATTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.965_969delinsATTTG (CLN5) MANE Select	ENSP00000366673.5:p.Tyr322=
ENST00000616833.6:c.*407_*411delinsATTTG (CLN5)	ENSP00000479547.3:n.*407_*411delinsATTTG
ENST00000635838.1:c.174+4730_174+4734delinsATTTG
ENST00000635905.1:n.566+4730_566+4734delinsATTTG (CLN5)
ENST00000635915.1:c.963_967delinsATTTG (CLN5)
ENST00000636183.2:c.965_969delinsATTTG (CLN5)	ENSP00000490181.2:p.Tyr322=
ENST00000636525.2:c.565+4730_565+4734delinsATTTG (CLN5)	ENSP00000490078.2:n.565+4730_565+4734delinsATTTG
ENST00000636681.1:c.*656_*660delinsATTTG (CLN5)	ENSP00000489922.1:n.*656_*660delinsATTTG
ENST00000636705.1:c.801_805delinsATTTG (CLN5)
ENST00000636767.2:c.565+4730_565+4734delinsATTTG (CLN5)	ENSP00000489855.2:n.565+4730_565+4734delinsATTTG
ENST00000636780.2:c.*414_*418delinsATTTG (CLN5)	ENSP00000489809.2:n.*414_*418delinsATTTG
ENST00000637192.1:c.213+4730_213+4734delinsATTTG
ENST00000637278.1:n.1291_1295delinsATTTG (CLN5)
ENST00000637397.2:c.565+4730_565+4734delinsATTTG (CLN5)	ENSP00000490422.2:n.565+4730_565+4734delinsATTTG
ENST00000638101.1:c.169+4730_169+4734delinsATTTG	ENSP00000490535.1:n.169+4730_169+4734delinsATTTG
ENST00000638147.2:c.565+4730_565+4734delinsATTTG	ENSP00000490953.2:n.565+4730_565+4734delinsATTTG
ENST00000377453.7:c.1112_1116delinsATTTG (CLN5)	ENSP00000366673.3:p.Tyr371=
ENST00000477982.2:n.1448_1452delinsCAAAT (FBXL3)
ENST00000485797.2:n.174-7910_174-7906delinsCAAAT (FBXL3)
ENST00000616833.4:c.965_969delinsATTTG (CLN5)	ENSP00000479547.1:p.Tyr322=
NM_006493.2:c.1112_1116delinsATTTG , LRG_692t1:c.1112_1116delinsATTTG (CLN5)	NP_006484.1:p.Tyr371=
NM_001366624.1:c.*414_*418delinsATTTG (CLN5)	NP_001353553.1:n.*414_*418delinsATTTG
NM_006493.3:c.965_969delinsATTTG (CLN5)	NP_006484.2:p.Tyr322=
XM_017020538.2:c.644-7910_644-7906delinsCAAAT (FBXL3)	XP_016876027.1:n.644-7910_644-7906delinsCAAAT
NM_001366624.2:c.*414_*418delinsATTTG (CLN5)	NP_001353553.1:n.*414_*418delinsATTTG
NM_006493.4:c.965_969delinsATTTG (CLN5) MANE Select	NP_006484.2:p.Tyr322=