Canonical Allele Identifier: CA2623304975

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001023-GGGGGTGATTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001024_77001033del , CM000675.2:g.77001024_77001033del	GRCh38
NC_000013.10:g.77575159_77575168del , CM000675.1:g.77575159_77575168del	GRCh37
NC_000013.9:g.76473160_76473169del	NCBI36
NG_009064.1:g.14101_14110del , LRG_692:g.14101_14110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*55_*64del (CLN5) MANE Select	ENSP00000366673.5:n.*55_*64del
ENST00000616833.6:c.*574_*583del (CLN5)	ENSP00000479547.3:n.*574_*583del
ENST00000635838.1:c.174+4897_174+4906del
ENST00000635905.1:n.566+4897_566+4906del (CLN5)
ENST00000635915.1:c.1130_1139del (CLN5)
ENST00000636183.2:c.*55_*64del (CLN5)	ENSP00000490181.2:n.*55_*64del
ENST00000636525.2:c.565+4897_565+4906del (CLN5)	ENSP00000490078.2:n.565+4897_565+4906del
ENST00000636681.1:c.*823_*832del (CLN5)	ENSP00000489922.1:n.*823_*832del
ENST00000636705.1:c.968_977del (CLN5)
ENST00000636767.2:c.565+4897_565+4906del (CLN5)	ENSP00000489855.2:n.565+4897_565+4906del
ENST00000636780.2:c.*581_*590del (CLN5)	ENSP00000489809.2:n.*581_*590del
ENST00000637192.1:c.213+4897_213+4906del
ENST00000637278.1:n.1458_1467del (CLN5)
ENST00000637397.2:c.565+4897_565+4906del (CLN5)	ENSP00000490422.2:n.565+4897_565+4906del
ENST00000638101.1:c.169+4897_169+4906del	ENSP00000490535.1:n.169+4897_169+4906del
ENST00000638147.2:c.565+4897_565+4906del	ENSP00000490953.2:n.565+4897_565+4906del
ENST00000377453.7:c.*55_*64del (CLN5)	ENSP00000366673.3:n.*55_*64del
ENST00000477982.2:n.1276_1285del (FBXL3)
ENST00000485797.2:n.174-8082_174-8073del (FBXL3)
ENST00000616833.4:c.*55_*64del (CLN5)	ENSP00000479547.1:n.*55_*64del
NM_006493.2:c.*55_*64del , LRG_692t1:c.*55_*64del (CLN5)	NP_006484.1:n.*55_*64del
NM_001366624.1:c.*581_*590del (CLN5)	NP_001353553.1:n.*581_*590del
NM_006493.3:c.*55_*64del (CLN5)	NP_006484.2:n.*55_*64del
XM_017020538.2:c.644-8082_644-8073del (FBXL3)	XP_016876027.1:n.644-8082_644-8073del
NM_001366624.2:c.*581_*590del (CLN5)	NP_001353553.1:n.*581_*590del
NM_006493.4:c.*55_*64del (CLN5) MANE Select	NP_006484.2:n.*55_*64del