Canonical Allele Identifier: CA2103435839

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000694_77000710delinsTATCTGGGAAATGAAAC , CM000675.2:g.77000694_77000710delinsTATCTGGGAAATGAAAC	GRCh38
NC_000013.10:g.77574829_77574845delinsTATCTGGGAAATGAAAC , CM000675.1:g.77574829_77574845delinsTATCTGGGAAATGAAAC	GRCh37
NC_000013.9:g.76472830_76472846delinsTATCTGGGAAATGAAAC	NCBI36
NG_009064.1:g.13771_13787delinsTATCTGGGAAATGAAAC , LRG_692:g.13771_13787delinsTATCTGGGAAATGAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.802_818delinsTATCTGGGAAATGAAAC (CLN5) MANE Select	ENSP00000366673.5:p.Tyr268=
ENST00000616833.6:c.*244_*260delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000479547.3:n.*244_*260delinsTATCTGGGAAATGAAAC
ENST00000635838.1:c.174+4567_174+4583delinsTATCTGGGAAATGAAAC
ENST00000635905.1:n.566+4567_566+4583delinsTATCTGGGAAATGAAAC (CLN5)
ENST00000635915.1:c.800_816delinsTATCTGGGAAATGAAAC (CLN5)
ENST00000636183.2:c.802_818delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000490181.2:p.Tyr268=
ENST00000636525.2:c.565+4567_565+4583delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000490078.2:n.565+4567_565+4583delinsTATCTGGGAAATGAAAC
ENST00000636681.1:c.*493_*509delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000489922.1:n.*493_*509delinsTATCTGGGAAATGAAAC
ENST00000636705.1:c.638_654delinsTATCTGGGAAATGAAAC (CLN5)
ENST00000636767.2:c.565+4567_565+4583delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000489855.2:n.565+4567_565+4583delinsTATCTGGGAAATGAAAC
ENST00000636780.2:c.*251_*267delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000489809.2:n.*251_*267delinsTATCTGGGAAATGAAAC
ENST00000637192.1:c.213+4567_213+4583delinsTATCTGGGAAATGAAAC
ENST00000637278.1:n.1128_1144delinsTATCTGGGAAATGAAAC (CLN5)
ENST00000637397.2:c.565+4567_565+4583delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000490422.2:n.565+4567_565+4583delinsTATCTGGGAAATGAAAC
ENST00000638101.1:c.169+4567_169+4583delinsTATCTGGGAAATGAAAC	ENSP00000490535.1:n.169+4567_169+4583delinsTATCTGGGAAATGAAAC
ENST00000638147.2:c.565+4567_565+4583delinsTATCTGGGAAATGAAAC	ENSP00000490953.2:n.565+4567_565+4583delinsTATCTGGGAAATGAAAC
ENST00000377453.7:c.949_965delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000366673.3:p.Tyr317=
ENST00000477982.2:n.1599_1615delinsGTTTCATTTCCCAGATA (FBXL3)
ENST00000485797.2:n.174-7759_174-7743delinsGTTTCATTTCCCAGATA (FBXL3)
ENST00000616833.4:c.802_818delinsTATCTGGGAAATGAAAC (CLN5)	ENSP00000479547.1:p.Tyr268=
NM_006493.2:c.949_965delinsTATCTGGGAAATGAAAC , LRG_692t1:c.949_965delinsTATCTGGGAAATGAAAC (CLN5)	NP_006484.1:p.Tyr317=
XM_011534917.1:c.*251_*267delinsTATCTGGGAAATGAAAC (CLN5)	XP_011533219.1:n.*251_*267delinsTATCTGGGAAATGAAAC
NM_001366624.1:c.*251_*267delinsTATCTGGGAAATGAAAC (CLN5)	NP_001353553.1:n.*251_*267delinsTATCTGGGAAATGAAAC
NM_006493.3:c.802_818delinsTATCTGGGAAATGAAAC (CLN5)	NP_006484.2:p.Tyr268=
XM_017020538.2:c.644-7759_644-7743delinsGTTTCATTTCCCAGATA (FBXL3)	XP_016876027.1:n.644-7759_644-7743delinsGTTTCATTTCCCAGATA
NM_001366624.2:c.*251_*267delinsTATCTGGGAAATGAAAC (CLN5)	NP_001353553.1:n.*251_*267delinsTATCTGGGAAATGAAAC
NM_006493.4:c.802_818delinsTATCTGGGAAATGAAAC (CLN5) MANE Select	NP_006484.2:p.Tyr268=