Canonical Allele Identifier: CA2799793424

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995664_76995829del , CM000675.2:g.76995664_76995829del	GRCh38
NC_000013.10:g.77569799_77569964del , CM000675.1:g.77569799_77569964del	GRCh37
NC_000013.9:g.76467800_76467965del	NCBI36
NG_009064.1:g.8741_8906del , LRG_692:g.8741_8906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.340-238_340-73del (CLN5) MANE Select	ENSP00000366673.5:n.340-238_340-73del
ENST00000485938.4:c.340-238_340-73del (CLN5)	ENSP00000482959.3:n.340-238_340-73del
ENST00000616833.6:c.340-238_340-73del (CLN5)	ENSP00000479547.3:n.340-238_340-73del
ENST00000635905.1:n.341-238_341-73del (CLN5)
ENST00000635915.1:c.279-179_279-14del (CLN5)
ENST00000635989.1:n.406+151_407-73del (CLN5)
ENST00000636183.2:c.340-238_340-73del (CLN5)	ENSP00000490181.2:n.340-238_340-73del
ENST00000636520.1:n.1614_1779del (CLN5)
ENST00000636525.2:c.340-238_340-73del (CLN5)	ENSP00000490078.2:n.340-238_340-73del
ENST00000636602.1:n.285+151_286-73del (CLN5)
ENST00000636681.1:c.*30+151_*31-73del (CLN5)	ENSP00000489922.1:n.*30+151_*31-73del
ENST00000636705.1:c.176-238_176-73del (CLN5)
ENST00000636767.2:c.340-238_340-73del (CLN5)	ENSP00000489855.2:n.340-238_340-73del
ENST00000636780.2:c.340-238_340-73del (CLN5)	ENSP00000489809.2:n.340-238_340-73del
ENST00000637278.1:n.428_593del (CLN5)
ENST00000637397.2:c.340-238_340-73del (CLN5)	ENSP00000490422.2:n.340-238_340-73del
ENST00000637537.2:c.340-238_340-73del (CLN5)	ENSP00000489711.2:n.340-238_340-73del
ENST00000638147.2:c.340-238_340-73del	ENSP00000490953.2:n.340-238_340-73del
ENST00000377453.7:c.487-238_487-73del (CLN5)	ENSP00000366673.3:n.487-238_487-73del
ENST00000485797.2:n.174-2872_174-2707del (FBXL3)
ENST00000485938.2:c.323-238_323-73del (CLN5)
ENST00000616833.4:c.340-238_340-73del (CLN5)	ENSP00000479547.1:n.340-238_340-73del
NM_006493.2:c.487-238_487-73del , LRG_692t1:c.487-238_487-73del (CLN5)	NP_006484.1:n.487-238_487-73del
XM_011534917.1:c.487-238_487-73del (CLN5)	XP_011533219.1:n.487-238_487-73del
NM_001366624.1:c.340-238_340-73del (CLN5)	NP_001353553.1:n.340-238_340-73del
NM_006493.3:c.340-238_340-73del (CLN5)	NP_006484.2:n.340-238_340-73del
XM_017020538.2:c.644-2872_644-2707del (FBXL3)	XP_016876027.1:n.644-2872_644-2707del
NM_001366624.2:c.340-238_340-73del (CLN5)	NP_001353553.1:n.340-238_340-73del
NM_006493.4:c.340-238_340-73del (CLN5) MANE Select	NP_006484.2:n.340-238_340-73del