Canonical Allele Identifier: CA2103422975

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995166_76995167delinsGA , CM000675.2:g.76995166_76995167delinsGA	GRCh38
NC_000013.10:g.77569301_77569302delinsGA , CM000675.1:g.77569301_77569302delinsGA	GRCh37
NC_000013.9:g.76467302_76467303delinsGA	NCBI36
NG_009064.1:g.8243_8244delinsGA , LRG_692:g.8243_8244delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.277_278delinsGA (CLN5) MANE Select	ENSP00000366673.5:p.Glu93=
ENST00000485938.4:c.277_278delinsGA (CLN5)	ENSP00000482959.3:p.Glu93=
ENST00000616833.6:c.277_278delinsGA (CLN5)	ENSP00000479547.3:p.Glu93=
ENST00000635905.1:n.278_279delinsGA (CLN5)
ENST00000635915.1:c.216_217delinsGA (CLN5)
ENST00000635989.1:n.287_288delinsGA (CLN5)
ENST00000636183.2:c.277_278delinsGA (CLN5)	ENSP00000490181.2:p.Glu93=
ENST00000636520.1:n.1116_1117delinsGA (CLN5)
ENST00000636525.2:c.277_278delinsGA (CLN5)	ENSP00000490078.2:p.Glu93=
ENST00000636681.1:c.22_23delinsGA (CLN5)	ENSP00000489922.1:p.Glu8=
ENST00000636705.1:c.113_114delinsGA (CLN5)
ENST00000636767.2:c.277_278delinsGA (CLN5)	ENSP00000489855.2:p.Glu93=
ENST00000636780.2:c.277_278delinsGA (CLN5)	ENSP00000489809.2:p.Glu93=
ENST00000637397.2:c.277_278delinsGA (CLN5)	ENSP00000490422.2:p.Glu93=
ENST00000637537.2:c.277_278delinsGA (CLN5)	ENSP00000489711.2:p.Glu93=
ENST00000638147.2:c.277_278delinsGA	ENSP00000490953.2:p.Glu93=
ENST00000377453.7:c.424_425delinsGA (CLN5)	ENSP00000366673.3:p.Glu142=
ENST00000485797.2:n.174-2216_174-2215delinsTC (FBXL3)
ENST00000485938.2:c.260_261delinsGA (CLN5)
ENST00000616833.4:c.277_278delinsGA (CLN5)	ENSP00000479547.1:p.Glu93=
NM_006493.2:c.424_425delinsGA , LRG_692t1:c.424_425delinsGA (CLN5)	NP_006484.1:p.Glu142=
XM_011534917.1:c.424_425delinsGA (CLN5)	XP_011533219.1:p.Glu142=
NM_001366624.1:c.277_278delinsGA (CLN5)	NP_001353553.1:p.Glu93=
NM_006493.3:c.277_278delinsGA (CLN5)	NP_006484.2:p.Glu93=
XM_017020538.2:c.644-2216_644-2215delinsTC (FBXL3)	XP_016876027.1:n.644-2216_644-2215delinsTC
NM_001366624.2:c.277_278delinsGA (CLN5)	NP_001353553.1:p.Glu93=
NM_006493.4:c.277_278delinsGA (CLN5) MANE Select	NP_006484.2:p.Glu93=