Canonical Allele Identifier: CA2623305097

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001134-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001138_77001140del , CM000675.2:g.77001138_77001140del	GRCh38
NC_000013.10:g.77575273_77575275del , CM000675.1:g.77575273_77575275del	GRCh37
NC_000013.9:g.76473274_76473276del	NCBI36
NG_009064.1:g.14215_14217del , LRG_692:g.14215_14217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*169_*171del (CLN5) MANE Select	ENSP00000366673.5:n.*169_*171del
ENST00000616833.6:c.*688_*690del (CLN5)	ENSP00000479547.3:n.*688_*690del
ENST00000635838.1:c.174+5011_174+5013del
ENST00000635905.1:n.566+5011_566+5013del (CLN5)
ENST00000635915.1:c.1244_1246del (CLN5)
ENST00000636183.2:c.*169_*171del (CLN5)	ENSP00000490181.2:n.*169_*171del
ENST00000636525.2:c.565+5011_565+5013del (CLN5)	ENSP00000490078.2:n.565+5011_565+5013del
ENST00000636681.1:c.*937_*939del (CLN5)	ENSP00000489922.1:n.*937_*939del
ENST00000636705.1:c.1082_1084del (CLN5)
ENST00000636767.2:c.565+5011_565+5013del (CLN5)	ENSP00000489855.2:n.565+5011_565+5013del
ENST00000636780.2:c.*695_*697del (CLN5)	ENSP00000489809.2:n.*695_*697del
ENST00000637192.1:c.213+5011_213+5013del
ENST00000637278.1:n.1572_1574del (CLN5)
ENST00000637397.2:c.565+5011_565+5013del (CLN5)	ENSP00000490422.2:n.565+5011_565+5013del
ENST00000638101.1:c.169+5011_169+5013del	ENSP00000490535.1:n.169+5011_169+5013del
ENST00000638147.2:c.565+5011_565+5013del	ENSP00000490953.2:n.565+5011_565+5013del
ENST00000377453.7:c.*169_*171del (CLN5)	ENSP00000366673.3:n.*169_*171del
ENST00000477982.2:n.1172_1174del (FBXL3)
ENST00000485797.2:n.174-8186_174-8184del (FBXL3)
ENST00000616833.4:c.*169_*171del (CLN5)	ENSP00000479547.1:n.*169_*171del
NM_006493.2:c.*169_*171del , LRG_692t1:c.*169_*171del (CLN5)	NP_006484.1:n.*169_*171del
NM_001366624.1:c.*695_*697del (CLN5)	NP_001353553.1:n.*695_*697del
NM_006493.3:c.*169_*171del (CLN5)	NP_006484.2:n.*169_*171del
XM_017020538.2:c.644-8186_644-8184del (FBXL3)	XP_016876027.1:n.644-8186_644-8184del
NM_001366624.2:c.*695_*697del (CLN5)	NP_001353553.1:n.*695_*697del
NM_006493.4:c.*169_*171del (CLN5) MANE Select	NP_006484.2:n.*169_*171del