Canonical Allele Identifier: CA2623305003

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001070-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001072_77001073dup , CM000675.2:g.77001072_77001073dup	GRCh38
NC_000013.10:g.77575207_77575208dup , CM000675.1:g.77575207_77575208dup	GRCh37
NC_000013.9:g.76473208_76473209dup	NCBI36
NG_009064.1:g.14149_14150dup , LRG_692:g.14149_14150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*103_*104dup (CLN5) MANE Select	ENSP00000366673.5:n.*103_*104dup
ENST00000616833.6:c.*622_*623dup (CLN5)	ENSP00000479547.3:n.*622_*623dup
ENST00000635838.1:c.174+4945_174+4946dup
ENST00000635905.1:n.566+4945_566+4946dup (CLN5)
ENST00000635915.1:c.1178_1179dup (CLN5)
ENST00000636183.2:c.*103_*104dup (CLN5)	ENSP00000490181.2:n.*103_*104dup
ENST00000636525.2:c.565+4945_565+4946dup (CLN5)	ENSP00000490078.2:n.565+4945_565+4946dup
ENST00000636681.1:c.*871_*872dup (CLN5)	ENSP00000489922.1:n.*871_*872dup
ENST00000636705.1:c.1016_1017dup (CLN5)
ENST00000636767.2:c.565+4945_565+4946dup (CLN5)	ENSP00000489855.2:n.565+4945_565+4946dup
ENST00000636780.2:c.*629_*630dup (CLN5)	ENSP00000489809.2:n.*629_*630dup
ENST00000637192.1:c.213+4945_213+4946dup
ENST00000637278.1:n.1506_1507dup (CLN5)
ENST00000637397.2:c.565+4945_565+4946dup (CLN5)	ENSP00000490422.2:n.565+4945_565+4946dup
ENST00000638101.1:c.169+4945_169+4946dup	ENSP00000490535.1:n.169+4945_169+4946dup
ENST00000638147.2:c.565+4945_565+4946dup	ENSP00000490953.2:n.565+4945_565+4946dup
ENST00000377453.7:c.*103_*104dup (CLN5)	ENSP00000366673.3:n.*103_*104dup
ENST00000477982.2:n.1237_1238dup (FBXL3)
ENST00000485797.2:n.174-8121_174-8120dup (FBXL3)
ENST00000616833.4:c.*103_*104dup (CLN5)	ENSP00000479547.1:n.*103_*104dup
NM_006493.2:c.*103_*104dup , LRG_692t1:c.*103_*104dup (CLN5)	NP_006484.1:n.*103_*104dup
NM_001366624.1:c.*629_*630dup (CLN5)	NP_001353553.1:n.*629_*630dup
NM_006493.3:c.*103_*104dup (CLN5)	NP_006484.2:n.*103_*104dup
XM_017020538.2:c.644-8121_644-8120dup (FBXL3)	XP_016876027.1:n.644-8121_644-8120dup
NM_001366624.2:c.*629_*630dup (CLN5)	NP_001353553.1:n.*629_*630dup
NM_006493.4:c.*103_*104dup (CLN5) MANE Select	NP_006484.2:n.*103_*104dup