Canonical Allele Identifier: CA701027535

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2680837
• ClinVar RCV Id: RCV003468477
• dbSNP Id: rs1304421147
• gnomAD v3: 13-77000857-ATTTG-A
• gnomAD v4: 13-77000857-ATTTG-A
• MyVariant Identifiers: chr13:g.77574993_77574996del (hg19) ; chr13:g.77000858_77000861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000861_77000864del , CM000675.2:g.77000861_77000864del	GRCh38
NC_000013.10:g.77574996_77574999del , CM000675.1:g.77574996_77574999del	GRCh37
NC_000013.9:g.76472997_76473000del	NCBI36
NG_009064.1:g.13938_13941del , LRG_692:g.13938_13941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.969_972del (CLN5) MANE Select	ENSP00000366673.5:p.Leu323PhefsTer11
ENST00000616833.6:c.*411_*414del (CLN5)	ENSP00000479547.3:n.*411_*414del
ENST00000635838.1:c.174+4734_174+4737del
ENST00000635905.1:n.566+4734_566+4737del (CLN5)
ENST00000635915.1:c.967_970del (CLN5)
ENST00000636183.2:c.969_972del (CLN5)	ENSP00000490181.2:p.Leu323PhefsTer11
ENST00000636525.2:c.565+4734_565+4737del (CLN5)	ENSP00000490078.2:n.565+4734_565+4737del
ENST00000636681.1:c.*660_*663del (CLN5)	ENSP00000489922.1:n.*660_*663del
ENST00000636705.1:c.805_808del (CLN5)
ENST00000636767.2:c.565+4734_565+4737del (CLN5)	ENSP00000489855.2:n.565+4734_565+4737del
ENST00000636780.2:c.*418_*421del (CLN5)	ENSP00000489809.2:n.*418_*421del
ENST00000637192.1:c.213+4734_213+4737del
ENST00000637278.1:n.1295_1298del (CLN5)
ENST00000637397.2:c.565+4734_565+4737del (CLN5)	ENSP00000490422.2:n.565+4734_565+4737del
ENST00000638101.1:c.169+4734_169+4737del	ENSP00000490535.1:n.169+4734_169+4737del
ENST00000638147.2:c.565+4734_565+4737del	ENSP00000490953.2:n.565+4734_565+4737del
ENST00000377453.7:c.1116_1119del (CLN5)	ENSP00000366673.3:p.Leu372PhefsTer11
ENST00000477982.2:n.1448_1451del (FBXL3)
ENST00000485797.2:n.174-7910_174-7907del (FBXL3)
ENST00000616833.4:c.969_972del (CLN5)	ENSP00000479547.1:p.Leu323PhefsTer11
NM_006493.2:c.1116_1119del , LRG_692t1:c.1116_1119del (CLN5)	NP_006484.1:p.Leu372PhefsTer11
NM_001366624.1:c.*418_*421del (CLN5)	NP_001353553.1:n.*418_*421del
NM_006493.3:c.969_972del (CLN5)	NP_006484.2:p.Leu323PhefsTer11
XM_017020538.2:c.644-7910_644-7907del (FBXL3)	XP_016876027.1:n.644-7910_644-7907del
NM_001366624.2:c.*418_*421del (CLN5)	NP_001353553.1:n.*418_*421del
NM_006493.4:c.969_972del (CLN5) MANE Select	NP_006484.2:p.Leu323PhefsTer11