Canonical Allele Identifier: CA2623304552

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000759-AAGATTTTATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000761_77000770del , CM000675.2:g.77000761_77000770del	GRCh38
NC_000013.10:g.77574896_77574905del , CM000675.1:g.77574896_77574905del	GRCh37
NC_000013.9:g.76472897_76472906del	NCBI36
NG_009064.1:g.13838_13847del , LRG_692:g.13838_13847del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.869_878del (CLN5) MANE Select	ENSP00000366673.5:p.Arg290ThrfsTer14
ENST00000616833.6:c.*311_*320del (CLN5)	ENSP00000479547.3:n.*311_*320del
ENST00000635838.1:c.174+4634_174+4643del
ENST00000635905.1:n.566+4634_566+4643del (CLN5)
ENST00000635915.1:c.867_876del (CLN5)
ENST00000636183.2:c.869_878del (CLN5)	ENSP00000490181.2:p.Arg290ThrfsTer14
ENST00000636525.2:c.565+4634_565+4643del (CLN5)	ENSP00000490078.2:n.565+4634_565+4643del
ENST00000636681.1:c.*560_*569del (CLN5)	ENSP00000489922.1:n.*560_*569del
ENST00000636705.1:c.705_714del (CLN5)
ENST00000636767.2:c.565+4634_565+4643del (CLN5)	ENSP00000489855.2:n.565+4634_565+4643del
ENST00000636780.2:c.*318_*327del (CLN5)	ENSP00000489809.2:n.*318_*327del
ENST00000637192.1:c.213+4634_213+4643del
ENST00000637278.1:n.1195_1204del (CLN5)
ENST00000637397.2:c.565+4634_565+4643del (CLN5)	ENSP00000490422.2:n.565+4634_565+4643del
ENST00000638101.1:c.169+4634_169+4643del	ENSP00000490535.1:n.169+4634_169+4643del
ENST00000638147.2:c.565+4634_565+4643del	ENSP00000490953.2:n.565+4634_565+4643del
ENST00000377453.7:c.1016_1025del (CLN5)	ENSP00000366673.3:p.Arg339ThrfsTer14
ENST00000477982.2:n.1540_1549del (FBXL3)
ENST00000485797.2:n.174-7818_174-7809del (FBXL3)
ENST00000616833.4:c.869_878del (CLN5)	ENSP00000479547.1:p.Arg290ThrfsTer14
NM_006493.2:c.1016_1025del , LRG_692t1:c.1016_1025del (CLN5)	NP_006484.1:p.Arg339ThrfsTer14
XM_011534917.1:c.*318_*327del (CLN5)	XP_011533219.1:n.*318_*327del
NM_001366624.1:c.*318_*327del (CLN5)	NP_001353553.1:n.*318_*327del
NM_006493.3:c.869_878del (CLN5)	NP_006484.2:p.Arg290ThrfsTer14
XM_017020538.2:c.644-7818_644-7809del (FBXL3)	XP_016876027.1:n.644-7818_644-7809del
NM_001366624.2:c.*318_*327del (CLN5)	NP_001353553.1:n.*318_*327del
NM_006493.4:c.869_878del (CLN5) MANE Select	NP_006484.2:p.Arg290ThrfsTer14