Canonical Allele Identifier: CA2623305042

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001093-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001095_77001096del , CM000675.2:g.77001095_77001096del	GRCh38
NC_000013.10:g.77575230_77575231del , CM000675.1:g.77575230_77575231del	GRCh37
NC_000013.9:g.76473231_76473232del	NCBI36
NG_009064.1:g.14172_14173del , LRG_692:g.14172_14173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*126_*127del (CLN5) MANE Select	ENSP00000366673.5:n.*126_*127del
ENST00000616833.6:c.*645_*646del (CLN5)	ENSP00000479547.3:n.*645_*646del
ENST00000635838.1:c.174+4968_174+4969del
ENST00000635905.1:n.566+4968_566+4969del (CLN5)
ENST00000635915.1:c.1201_1202del (CLN5)
ENST00000636183.2:c.*126_*127del (CLN5)	ENSP00000490181.2:n.*126_*127del
ENST00000636525.2:c.565+4968_565+4969del (CLN5)	ENSP00000490078.2:n.565+4968_565+4969del
ENST00000636681.1:c.*894_*895del (CLN5)	ENSP00000489922.1:n.*894_*895del
ENST00000636705.1:c.1039_1040del (CLN5)
ENST00000636767.2:c.565+4968_565+4969del (CLN5)	ENSP00000489855.2:n.565+4968_565+4969del
ENST00000636780.2:c.*652_*653del (CLN5)	ENSP00000489809.2:n.*652_*653del
ENST00000637192.1:c.213+4968_213+4969del
ENST00000637278.1:n.1529_1530del (CLN5)
ENST00000637397.2:c.565+4968_565+4969del (CLN5)	ENSP00000490422.2:n.565+4968_565+4969del
ENST00000638101.1:c.169+4968_169+4969del	ENSP00000490535.1:n.169+4968_169+4969del
ENST00000638147.2:c.565+4968_565+4969del	ENSP00000490953.2:n.565+4968_565+4969del
ENST00000377453.7:c.*126_*127del (CLN5)	ENSP00000366673.3:n.*126_*127del
ENST00000477982.2:n.1214_1215del (FBXL3)
ENST00000485797.2:n.174-8144_174-8143del (FBXL3)
ENST00000616833.4:c.*126_*127del (CLN5)	ENSP00000479547.1:n.*126_*127del
NM_006493.2:c.*126_*127del , LRG_692t1:c.*126_*127del (CLN5)	NP_006484.1:n.*126_*127del
NM_001366624.1:c.*652_*653del (CLN5)	NP_001353553.1:n.*652_*653del
NM_006493.3:c.*126_*127del (CLN5)	NP_006484.2:n.*126_*127del
XM_017020538.2:c.644-8144_644-8143del (FBXL3)	XP_016876027.1:n.644-8144_644-8143del
NM_001366624.2:c.*652_*653del (CLN5)	NP_001353553.1:n.*652_*653del
NM_006493.4:c.*126_*127del (CLN5) MANE Select	NP_006484.2:n.*126_*127del