Canonical Allele Identifier: CA2103423688

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs2034254394
• gnomAD v4: 13-76995776-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995776G>A , CM000675.2:g.76995776G>A	GRCh38
NC_000013.10:g.77569911G>A , CM000675.1:g.77569911G>A	GRCh37
NC_000013.9:g.76467912G>A	NCBI36
NG_009064.1:g.8853G>A , LRG_692:g.8853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.340-126G>A (CLN5) MANE Select	ENSP00000366673.5:n.340-126G>A
ENST00000485938.4:c.340-126G>A (CLN5)	ENSP00000482959.3:n.340-126G>A
ENST00000616833.6:c.340-126G>A (CLN5)	ENSP00000479547.3:n.340-126G>A
ENST00000635905.1:n.341-126G>A (CLN5)
ENST00000635915.1:c.279-67G>A (CLN5)
ENST00000635989.1:n.407-126G>A (CLN5)
ENST00000636183.2:c.340-126G>A (CLN5)	ENSP00000490181.2:n.340-126G>A
ENST00000636520.1:n.1726G>A (CLN5)
ENST00000636525.2:c.340-126G>A (CLN5)	ENSP00000490078.2:n.340-126G>A
ENST00000636602.1:n.286-126G>A (CLN5)
ENST00000636681.1:c.*31-126G>A (CLN5)	ENSP00000489922.1:n.*31-126G>A
ENST00000636705.1:c.176-126G>A (CLN5)
ENST00000636767.2:c.340-126G>A (CLN5)	ENSP00000489855.2:n.340-126G>A
ENST00000636780.2:c.340-126G>A (CLN5)	ENSP00000489809.2:n.340-126G>A
ENST00000637278.1:n.540G>A (CLN5)
ENST00000637397.2:c.340-126G>A (CLN5)	ENSP00000490422.2:n.340-126G>A
ENST00000637537.2:c.340-126G>A (CLN5)	ENSP00000489711.2:n.340-126G>A
ENST00000638147.2:c.340-126G>A	ENSP00000490953.2:n.340-126G>A
ENST00000377453.7:c.487-126G>A (CLN5)	ENSP00000366673.3:n.487-126G>A
ENST00000485797.2:n.174-2825C>T (FBXL3)
ENST00000485938.2:c.323-126G>A (CLN5)
ENST00000616833.4:c.340-126G>A (CLN5)	ENSP00000479547.1:n.340-126G>A
NM_006493.2:c.487-126G>A , LRG_692t1:c.487-126G>A (CLN5)	NP_006484.1:n.487-126G>A
XM_011534917.1:c.487-126G>A (CLN5)	XP_011533219.1:n.487-126G>A
NM_001366624.1:c.340-126G>A (CLN5)	NP_001353553.1:n.340-126G>A
NM_006493.3:c.340-126G>A (CLN5)	NP_006484.2:n.340-126G>A
XM_017020538.2:c.644-2825C>T (FBXL3)	XP_016876027.1:n.644-2825C>T
NM_001366624.2:c.340-126G>A (CLN5)	NP_001353553.1:n.340-126G>A
NM_006493.4:c.340-126G>A (CLN5) MANE Select	NP_006484.2:n.340-126G>A