Canonical Allele Identifier: CA2623305107

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001144-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001144A>G , CM000675.2:g.77001144A>G	GRCh38
NC_000013.10:g.77575279A>G , CM000675.1:g.77575279A>G	GRCh37
NC_000013.9:g.76473280A>G	NCBI36
NG_009064.1:g.14221A>G , LRG_692:g.14221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*175A>G (CLN5) MANE Select	ENSP00000366673.5:n.*175A>G
ENST00000616833.6:c.*694A>G (CLN5)	ENSP00000479547.3:n.*694A>G
ENST00000635838.1:c.174+5017A>G
ENST00000635905.1:n.566+5017A>G (CLN5)
ENST00000635915.1:c.1250A>G (CLN5)
ENST00000636183.2:c.*175A>G (CLN5)	ENSP00000490181.2:n.*175A>G
ENST00000636525.2:c.565+5017A>G (CLN5)	ENSP00000490078.2:n.565+5017A>G
ENST00000636681.1:c.*943A>G (CLN5)	ENSP00000489922.1:n.*943A>G
ENST00000636705.1:c.1088A>G (CLN5)
ENST00000636767.2:c.565+5017A>G (CLN5)	ENSP00000489855.2:n.565+5017A>G
ENST00000636780.2:c.*701A>G (CLN5)	ENSP00000489809.2:n.*701A>G
ENST00000637192.1:c.213+5017A>G
ENST00000637278.1:n.1578A>G (CLN5)
ENST00000637397.2:c.565+5017A>G (CLN5)	ENSP00000490422.2:n.565+5017A>G
ENST00000638101.1:c.169+5017A>G	ENSP00000490535.1:n.169+5017A>G
ENST00000638147.2:c.565+5017A>G	ENSP00000490953.2:n.565+5017A>G
ENST00000377453.7:c.*175A>G (CLN5)	ENSP00000366673.3:n.*175A>G
ENST00000477982.2:n.1165T>C (FBXL3)
ENST00000485797.2:n.174-8193T>C (FBXL3)
ENST00000616833.4:c.*175A>G (CLN5)	ENSP00000479547.1:n.*175A>G
NM_006493.2:c.*175A>G , LRG_692t1:c.*175A>G (CLN5)	NP_006484.1:n.*175A>G
NM_001366624.1:c.*701A>G (CLN5)	NP_001353553.1:n.*701A>G
NM_006493.3:c.*175A>G (CLN5)	NP_006484.2:n.*175A>G
XM_017020538.2:c.644-8193T>C (FBXL3)	XP_016876027.1:n.644-8193T>C
NM_001366624.2:c.*701A>G (CLN5)	NP_001353553.1:n.*701A>G
NM_006493.4:c.*175A>G (CLN5) MANE Select	NP_006484.2:n.*175A>G