Canonical Allele Identifier: CA2103437365

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs2034357554

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001211_77001214del , CM000675.2:g.77001211_77001214del	GRCh38
NC_000013.10:g.77575346_77575349del , CM000675.1:g.77575346_77575349del	GRCh37
NC_000013.9:g.76473347_76473350del	NCBI36
NG_009064.1:g.14288_14291del , LRG_692:g.14288_14291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*242_*245del (CLN5) MANE Select	ENSP00000366673.5:n.*242_*245del
ENST00000616833.6:c.*761_*764del (CLN5)	ENSP00000479547.3:n.*761_*764del
ENST00000635838.1:c.174+5084_174+5087del
ENST00000635905.1:n.566+5084_566+5087del (CLN5)
ENST00000635915.1:c.1317_1320del (CLN5)
ENST00000636183.2:c.*242_*245del (CLN5)	ENSP00000490181.2:n.*242_*245del
ENST00000636525.2:c.565+5084_565+5087del (CLN5)	ENSP00000490078.2:n.565+5084_565+5087del
ENST00000636681.1:c.*1010_*1013del (CLN5)	ENSP00000489922.1:n.*1010_*1013del
ENST00000636705.1:c.1155_1158del (CLN5)
ENST00000636767.2:c.565+5084_565+5087del (CLN5)	ENSP00000489855.2:n.565+5084_565+5087del
ENST00000636780.2:c.*768_*771del (CLN5)	ENSP00000489809.2:n.*768_*771del
ENST00000637192.1:c.213+5084_213+5087del
ENST00000637278.1:n.1645_1648del (CLN5)
ENST00000637397.2:c.565+5084_565+5087del (CLN5)	ENSP00000490422.2:n.565+5084_565+5087del
ENST00000638101.1:c.169+5084_169+5087del	ENSP00000490535.1:n.169+5084_169+5087del
ENST00000638147.2:c.565+5084_565+5087del	ENSP00000490953.2:n.565+5084_565+5087del
ENST00000377453.7:c.*242_*245del (CLN5)	ENSP00000366673.3:n.*242_*245del
ENST00000477982.2:n.1096_1099del (FBXL3)
ENST00000485797.2:n.174-8262_174-8259del (FBXL3)
ENST00000616833.4:c.*242_*245del (CLN5)	ENSP00000479547.1:n.*242_*245del
NM_006493.2:c.*242_*245del , LRG_692t1:c.*242_*245del (CLN5)	NP_006484.1:n.*242_*245del
NM_001366624.1:c.*768_*771del (CLN5)	NP_001353553.1:n.*768_*771del
NM_006493.3:c.*242_*245del (CLN5)	NP_006484.2:n.*242_*245del
XM_017020538.2:c.644-8262_644-8259del (FBXL3)	XP_016876027.1:n.644-8262_644-8259del
NM_001366624.2:c.*768_*771del (CLN5)	NP_001353553.1:n.*768_*771del
NM_006493.4:c.*242_*245del (CLN5) MANE Select	NP_006484.2:n.*242_*245del