Canonical Allele Identifier: CA2103435689

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000666_77000668delinsAAT , CM000675.2:g.77000666_77000668delinsAAT	GRCh38
NC_000013.10:g.77574801_77574803delinsAAT , CM000675.1:g.77574801_77574803delinsAAT	GRCh37
NC_000013.9:g.76472802_76472804delinsAAT	NCBI36
NG_009064.1:g.13743_13745delinsAAT , LRG_692:g.13743_13745delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.774_776delinsAAT (CLN5) MANE Select	ENSP00000366673.5:p.Arg258=
ENST00000616833.6:c.*216_*218delinsAAT (CLN5)	ENSP00000479547.3:n.*216_*218delinsAAT
ENST00000635838.1:c.174+4539_174+4541delinsAAT
ENST00000635905.1:n.566+4539_566+4541delinsAAT (CLN5)
ENST00000635915.1:c.772_774delinsAAT (CLN5)
ENST00000636183.2:c.774_776delinsAAT (CLN5)	ENSP00000490181.2:p.Arg258=
ENST00000636525.2:c.565+4539_565+4541delinsAAT (CLN5)	ENSP00000490078.2:n.565+4539_565+4541delinsAAT
ENST00000636681.1:c.*465_*467delinsAAT (CLN5)	ENSP00000489922.1:n.*465_*467delinsAAT
ENST00000636705.1:c.610_612delinsAAT (CLN5)
ENST00000636767.2:c.565+4539_565+4541delinsAAT (CLN5)	ENSP00000489855.2:n.565+4539_565+4541delinsAAT
ENST00000636780.2:c.*223_*225delinsAAT (CLN5)	ENSP00000489809.2:n.*223_*225delinsAAT
ENST00000637192.1:c.213+4539_213+4541delinsAAT
ENST00000637278.1:n.1100_1102delinsAAT (CLN5)
ENST00000637397.2:c.565+4539_565+4541delinsAAT (CLN5)	ENSP00000490422.2:n.565+4539_565+4541delinsAAT
ENST00000638101.1:c.169+4539_169+4541delinsAAT	ENSP00000490535.1:n.169+4539_169+4541delinsAAT
ENST00000638147.2:c.565+4539_565+4541delinsAAT	ENSP00000490953.2:n.565+4539_565+4541delinsAAT
ENST00000377453.7:c.921_923delinsAAT (CLN5)	ENSP00000366673.3:p.Arg307=
ENST00000477982.2:n.1641_1643delinsATT (FBXL3)
ENST00000485797.2:n.174-7717_174-7715delinsATT (FBXL3)
ENST00000616833.4:c.774_776delinsAAT (CLN5)	ENSP00000479547.1:p.Arg258=
NM_006493.2:c.921_923delinsAAT , LRG_692t1:c.921_923delinsAAT (CLN5)	NP_006484.1:p.Arg307=
XM_011534917.1:c.*223_*225delinsAAT (CLN5)	XP_011533219.1:n.*223_*225delinsAAT
NM_001366624.1:c.*223_*225delinsAAT (CLN5)	NP_001353553.1:n.*223_*225delinsAAT
NM_006493.3:c.774_776delinsAAT (CLN5)	NP_006484.2:p.Arg258=
XM_017020538.2:c.644-7717_644-7715delinsATT (FBXL3)	XP_016876027.1:n.644-7717_644-7715delinsATT
NM_001366624.2:c.*223_*225delinsAAT (CLN5)	NP_001353553.1:n.*223_*225delinsAAT
NM_006493.4:c.774_776delinsAAT (CLN5) MANE Select	NP_006484.2:p.Arg258=