Canonical Allele Identifier: CA658823727

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 558374
• ClinVar RCV Id: RCV000674631 ; RCV001861846
• dbSNP Id: rs1555274343
• gnomAD v4: 13-77000593-TTG-T
• MyVariant Identifiers: chr13:g.77000597_77000598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000597_77000598del , CM000675.2:g.77000597_77000598del	GRCh38
NC_000013.10:g.77574732_77574733del , CM000675.1:g.77574732_77574733del	GRCh37
NC_000013.9:g.76472733_76472734del	NCBI36
NG_009064.1:g.13674_13675del , LRG_692:g.13674_13675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.705_706del (CLN5) MANE Select	ENSP00000366673.5:p.Leu236LysfsTer4
ENST00000616833.6:c.*147_*148del (CLN5)	ENSP00000479547.3:n.*147_*148del
ENST00000635838.1:c.174+4470_174+4471del
ENST00000635905.1:n.566+4470_566+4471del (CLN5)
ENST00000635915.1:c.703_704del (CLN5)
ENST00000636183.2:c.705_706del (CLN5)	ENSP00000490181.2:p.Leu236LysfsTer4
ENST00000636525.2:c.565+4470_565+4471del (CLN5)	ENSP00000490078.2:n.565+4470_565+4471del
ENST00000636681.1:c.*396_*397del (CLN5)	ENSP00000489922.1:n.*396_*397del
ENST00000636705.1:c.541_542del (CLN5)
ENST00000636767.2:c.565+4470_565+4471del (CLN5)	ENSP00000489855.2:n.565+4470_565+4471del
ENST00000636780.2:c.*154_*155del (CLN5)	ENSP00000489809.2:n.*154_*155del
ENST00000637192.1:c.213+4470_213+4471del
ENST00000637278.1:n.1031_1032del (CLN5)
ENST00000637397.2:c.565+4470_565+4471del (CLN5)	ENSP00000490422.2:n.565+4470_565+4471del
ENST00000638101.1:c.169+4470_169+4471del	ENSP00000490535.1:n.169+4470_169+4471del
ENST00000638147.2:c.565+4470_565+4471del	ENSP00000490953.2:n.565+4470_565+4471del
ENST00000377453.7:c.852_853del (CLN5)	ENSP00000366673.3:p.Leu285LysfsTer4
ENST00000477982.2:n.1714_1715del (FBXL3)
ENST00000485797.2:n.174-7644_174-7643del (FBXL3)
ENST00000616833.4:c.705_706del (CLN5)	ENSP00000479547.1:p.Leu236LysfsTer4
NM_006493.2:c.852_853del , LRG_692t1:c.852_853del (CLN5)	NP_006484.1:p.Leu285LysfsTer4
XM_011534917.1:c.*154_*155del (CLN5)	XP_011533219.1:n.*154_*155del
NM_001366624.1:c.*154_*155del (CLN5)	NP_001353553.1:n.*154_*155del
NM_006493.3:c.705_706del (CLN5)	NP_006484.2:p.Leu236LysfsTer4
XM_017020538.2:c.644-7644_644-7643del (FBXL3)	XP_016876027.1:n.644-7644_644-7643del
NM_001366624.2:c.*154_*155del (CLN5)	NP_001353553.1:n.*154_*155del
NM_006493.4:c.705_706del (CLN5) MANE Select	NP_006484.2:p.Leu236LysfsTer4