Canonical Allele Identifier: CA2623304988

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001041-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001041G>T , CM000675.2:g.77001041G>T	GRCh38
NC_000013.10:g.77575176G>T , CM000675.1:g.77575176G>T	GRCh37
NC_000013.9:g.76473177G>T	NCBI36
NG_009064.1:g.14118G>T , LRG_692:g.14118G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*72G>T (CLN5) MANE Select	ENSP00000366673.5:n.*72G>T
ENST00000616833.6:c.*591G>T (CLN5)	ENSP00000479547.3:n.*591G>T
ENST00000635838.1:c.174+4914G>T
ENST00000635905.1:n.566+4914G>T (CLN5)
ENST00000635915.1:c.1147G>T (CLN5)
ENST00000636183.2:c.*72G>T (CLN5)	ENSP00000490181.2:n.*72G>T
ENST00000636525.2:c.565+4914G>T (CLN5)	ENSP00000490078.2:n.565+4914G>T
ENST00000636681.1:c.*840G>T (CLN5)	ENSP00000489922.1:n.*840G>T
ENST00000636705.1:c.985G>T (CLN5)
ENST00000636767.2:c.565+4914G>T (CLN5)	ENSP00000489855.2:n.565+4914G>T
ENST00000636780.2:c.*598G>T (CLN5)	ENSP00000489809.2:n.*598G>T
ENST00000637192.1:c.213+4914G>T
ENST00000637278.1:n.1475G>T (CLN5)
ENST00000637397.2:c.565+4914G>T (CLN5)	ENSP00000490422.2:n.565+4914G>T
ENST00000638101.1:c.169+4914G>T	ENSP00000490535.1:n.169+4914G>T
ENST00000638147.2:c.565+4914G>T	ENSP00000490953.2:n.565+4914G>T
ENST00000377453.7:c.*72G>T (CLN5)	ENSP00000366673.3:n.*72G>T
ENST00000477982.2:n.1268C>A (FBXL3)
ENST00000485797.2:n.174-8090C>A (FBXL3)
ENST00000616833.4:c.*72G>T (CLN5)	ENSP00000479547.1:n.*72G>T
NM_006493.2:c.*72G>T , LRG_692t1:c.*72G>T (CLN5)	NP_006484.1:n.*72G>T
NM_001366624.1:c.*598G>T (CLN5)	NP_001353553.1:n.*598G>T
NM_006493.3:c.*72G>T (CLN5)	NP_006484.2:n.*72G>T
XM_017020538.2:c.644-8090C>A (FBXL3)	XP_016876027.1:n.644-8090C>A
NM_001366624.2:c.*598G>T (CLN5)	NP_001353553.1:n.*598G>T
NM_006493.4:c.*72G>T (CLN5) MANE Select	NP_006484.2:n.*72G>T