Canonical Allele Identifier: CA2103435438

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000593_77000595delinsTTG , CM000675.2:g.77000593_77000595delinsTTG	GRCh38
NC_000013.10:g.77574728_77574730delinsTTG , CM000675.1:g.77574728_77574730delinsTTG	GRCh37
NC_000013.9:g.76472729_76472731delinsTTG	NCBI36
NG_009064.1:g.13670_13672delinsTTG , LRG_692:g.13670_13672delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.701_703delinsTTG (CLN5) MANE Select	ENSP00000366673.5:p.Phe234=
ENST00000616833.6:c.*143_*145delinsTTG (CLN5)	ENSP00000479547.3:n.*143_*145delinsTTG
ENST00000635838.1:c.174+4466_174+4468delinsTTG
ENST00000635905.1:n.566+4466_566+4468delinsTTG (CLN5)
ENST00000635915.1:c.699_701delinsTTG (CLN5)
ENST00000636183.2:c.701_703delinsTTG (CLN5)	ENSP00000490181.2:p.Phe234=
ENST00000636525.2:c.565+4466_565+4468delinsTTG (CLN5)	ENSP00000490078.2:n.565+4466_565+4468delinsTTG
ENST00000636681.1:c.*392_*394delinsTTG (CLN5)	ENSP00000489922.1:n.*392_*394delinsTTG
ENST00000636705.1:c.537_539delinsTTG (CLN5)
ENST00000636767.2:c.565+4466_565+4468delinsTTG (CLN5)	ENSP00000489855.2:n.565+4466_565+4468delinsTTG
ENST00000636780.2:c.*150_*152delinsTTG (CLN5)	ENSP00000489809.2:n.*150_*152delinsTTG
ENST00000637192.1:c.213+4466_213+4468delinsTTG
ENST00000637278.1:n.1027_1029delinsTTG (CLN5)
ENST00000637397.2:c.565+4466_565+4468delinsTTG (CLN5)	ENSP00000490422.2:n.565+4466_565+4468delinsTTG
ENST00000638101.1:c.169+4466_169+4468delinsTTG	ENSP00000490535.1:n.169+4466_169+4468delinsTTG
ENST00000638147.2:c.565+4466_565+4468delinsTTG	ENSP00000490953.2:n.565+4466_565+4468delinsTTG
ENST00000377453.7:c.848_850delinsTTG (CLN5)	ENSP00000366673.3:p.Phe283=
ENST00000477982.2:n.1714_1716delinsCAA (FBXL3)
ENST00000485797.2:n.174-7644_174-7642delinsCAA (FBXL3)
ENST00000616833.4:c.701_703delinsTTG (CLN5)	ENSP00000479547.1:p.Phe234=
NM_006493.2:c.848_850delinsTTG , LRG_692t1:c.848_850delinsTTG (CLN5)	NP_006484.1:p.Phe283=
XM_011534917.1:c.*150_*152delinsTTG (CLN5)	XP_011533219.1:n.*150_*152delinsTTG
NM_001366624.1:c.*150_*152delinsTTG (CLN5)	NP_001353553.1:n.*150_*152delinsTTG
NM_006493.3:c.701_703delinsTTG (CLN5)	NP_006484.2:p.Phe234=
XM_017020538.2:c.644-7644_644-7642delinsCAA (FBXL3)	XP_016876027.1:n.644-7644_644-7642delinsCAA
NM_001366624.2:c.*150_*152delinsTTG (CLN5)	NP_001353553.1:n.*150_*152delinsTTG
NM_006493.4:c.701_703delinsTTG (CLN5) MANE Select	NP_006484.2:p.Phe234=