Canonical Allele Identifier: CA2103436304

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000816_77000818delinsCTT , CM000675.2:g.77000816_77000818delinsCTT	GRCh38
NC_000013.10:g.77574951_77574953delinsCTT , CM000675.1:g.77574951_77574953delinsCTT	GRCh37
NC_000013.9:g.76472952_76472954delinsCTT	NCBI36
NG_009064.1:g.13893_13895delinsCTT , LRG_692:g.13893_13895delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.924_926delinsCTT (CLN5) MANE Select	ENSP00000366673.5:p.Leu308=
ENST00000616833.6:c.*366_*368delinsCTT (CLN5)	ENSP00000479547.3:n.*366_*368delinsCTT
ENST00000635838.1:c.174+4689_174+4691delinsCTT
ENST00000635905.1:n.566+4689_566+4691delinsCTT (CLN5)
ENST00000635915.1:c.922_924delinsCTT (CLN5)
ENST00000636183.2:c.924_926delinsCTT (CLN5)	ENSP00000490181.2:p.Leu308=
ENST00000636525.2:c.565+4689_565+4691delinsCTT (CLN5)	ENSP00000490078.2:n.565+4689_565+4691deli...
ENST00000636681.1:c.*615_*617delinsCTT (CLN5)	ENSP00000489922.1:n.*615_*617delinsCTT
ENST00000636705.1:c.760_762delinsCTT (CLN5)
ENST00000636767.2:c.565+4689_565+4691delinsCTT (CLN5)	ENSP00000489855.2:n.565+4689_565+4691deli...
ENST00000636780.2:c.*373_*375delinsCTT (CLN5)	ENSP00000489809.2:n.*373_*375delinsCTT
ENST00000637192.1:c.213+4689_213+4691delinsCTT
ENST00000637278.1:n.1250_1252delinsCTT (CLN5)
ENST00000637397.2:c.565+4689_565+4691delinsCTT (CLN5)	ENSP00000490422.2:n.565+4689_565+4691deli...
ENST00000638101.1:c.169+4689_169+4691delinsCTT	ENSP00000490535.1:n.169+4689_169+4691deli...
ENST00000638147.2:c.565+4689_565+4691delinsCTT	ENSP00000490953.2:n.565+4689_565+4691deli...
ENST00000377453.7:c.1071_1073delinsCTT (CLN5)	ENSP00000366673.3:p.Leu357=
ENST00000477982.2:n.1491_1493delinsAAG (FBXL3)
ENST00000485797.2:n.174-7867_174-7865delinsAAG (FBXL3)
ENST00000616833.4:c.924_926delinsCTT (CLN5)	ENSP00000479547.1:p.Leu308=
NM_006493.2:c.1071_1073delinsCTT , LRG_692t1:c.1071_1073delinsCTT (CLN5)	NP_006484.1:p.Leu357=
XM_011534917.1:c.*373_*375delinsCTT (CLN5)	XP_011533219.1:n.*373_*375delinsCTT
NM_001366624.1:c.*373_*375delinsCTT (CLN5)	NP_001353553.1:n.*373_*375delinsCTT
NM_006493.3:c.924_926delinsCTT (CLN5)	NP_006484.2:p.Leu308=
XM_017020538.2:c.644-7867_644-7865delinsAAG (FBXL3)	XP_016876027.1:n.644-7867_644-7865delinsA...
NM_001366624.2:c.*373_*375delinsCTT (CLN5)	NP_001353553.1:n.*373_*375delinsCTT
NM_006493.4:c.924_926delinsCTT (CLN5) MANE Select	NP_006484.2:p.Leu308=