Canonical Allele Identifier: CA2623304463

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000713-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000714del , CM000675.2:g.77000714del	GRCh38
NC_000013.10:g.77574849del , CM000675.1:g.77574849del	GRCh37
NC_000013.9:g.76472850del	NCBI36
NG_009064.1:g.13791del , LRG_692:g.13791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.822del (CLN5) MANE Select	ENSP00000366673.5:p.Val275PhefsTer12
ENST00000616833.6:c.*264del (CLN5)	ENSP00000479547.3:n.*264del
ENST00000635838.1:c.174+4587del
ENST00000635905.1:n.566+4587del (CLN5)
ENST00000635915.1:c.820del (CLN5)
ENST00000636183.2:c.822del (CLN5)	ENSP00000490181.2:p.Val275PhefsTer12
ENST00000636525.2:c.565+4587del (CLN5)	ENSP00000490078.2:n.565+4587del
ENST00000636681.1:c.*513del (CLN5)	ENSP00000489922.1:n.*513del
ENST00000636705.1:c.658del (CLN5)
ENST00000636767.2:c.565+4587del (CLN5)	ENSP00000489855.2:n.565+4587del
ENST00000636780.2:c.*271del (CLN5)	ENSP00000489809.2:n.*271del
ENST00000637192.1:c.213+4587del
ENST00000637278.1:n.1148del (CLN5)
ENST00000637397.2:c.565+4587del (CLN5)	ENSP00000490422.2:n.565+4587del
ENST00000638101.1:c.169+4587del	ENSP00000490535.1:n.169+4587del
ENST00000638147.2:c.565+4587del	ENSP00000490953.2:n.565+4587del
ENST00000377453.7:c.969del (CLN5)	ENSP00000366673.3:p.Val324PhefsTer12
ENST00000477982.2:n.1595del (FBXL3)
ENST00000485797.2:n.174-7763del (FBXL3)
ENST00000616833.4:c.822del (CLN5)	ENSP00000479547.1:p.Val275PhefsTer12
NM_006493.2:c.969del , LRG_692t1:c.969del (CLN5)	NP_006484.1:p.Val324PhefsTer12
XM_011534917.1:c.*271del (CLN5)	XP_011533219.1:n.*271del
NM_001366624.1:c.*271del (CLN5)	NP_001353553.1:n.*271del
NM_006493.3:c.822del (CLN5)	NP_006484.2:p.Val275PhefsTer12
XM_017020538.2:c.644-7763del (FBXL3)	XP_016876027.1:n.644-7763del
NM_001366624.2:c.*271del (CLN5)	NP_001353553.1:n.*271del
NM_006493.4:c.822del (CLN5) MANE Select	NP_006484.2:p.Val275PhefsTer12