Canonical Allele Identifier: CA2103434485

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000266_77000269delinsTCCC , CM000675.2:g.77000266_77000269delinsTCCC	GRCh38
NC_000013.10:g.77574401_77574404delinsTCCC , CM000675.1:g.77574401_77574404delinsTCCC	GRCh37
NC_000013.9:g.76472402_76472405delinsTCCC	NCBI36
NG_009064.1:g.13343_13346delinsTCCC , LRG_692:g.13343_13346delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-192_566-189delinsTCCC (CLN5) MANE Select	ENSP00000366673.5:n.566-192_566-189delinsTCCC
ENST00000616833.6:c.*8-192_*8-189delinsTCCC (CLN5)	ENSP00000479547.3:n.*8-192_*8-189delinsTCCC
ENST00000635761.1:n.432_435delinsTCCC (CLN5)
ENST00000635838.1:c.174+4139_174+4142delinsTCCC
ENST00000635905.1:n.566+4139_566+4142delinsTCCC (CLN5)
ENST00000635915.1:c.564-192_564-189delinsTCCC (CLN5)
ENST00000636183.2:c.566-192_566-189delinsTCCC (CLN5)	ENSP00000490181.2:n.566-192_566-189delinsTCCC
ENST00000636525.2:c.565+4139_565+4142delinsTCCC (CLN5)	ENSP00000490078.2:n.565+4139_565+4142delinsTCCC
ENST00000636681.1:c.*257-192_*257-189delinsTCCC (CLN5)	ENSP00000489922.1:n.*257-192_*257-189delinsTCCC
ENST00000636705.1:c.402-192_402-189delinsTCCC (CLN5)
ENST00000636767.2:c.565+4139_565+4142delinsTCCC (CLN5)	ENSP00000489855.2:n.565+4139_565+4142delinsTCCC
ENST00000636780.2:c.*15-192_*15-189delinsTCCC (CLN5)	ENSP00000489809.2:n.*15-192_*15-189delinsTCCC
ENST00000637192.1:c.213+4139_213+4142delinsTCCC
ENST00000637278.1:n.892-192_892-189delinsTCCC (CLN5)
ENST00000637397.2:c.565+4139_565+4142delinsTCCC (CLN5)	ENSP00000490422.2:n.565+4139_565+4142delinsTCCC
ENST00000638101.1:c.169+4139_169+4142delinsTCCC	ENSP00000490535.1:n.169+4139_169+4142delinsTCCC
ENST00000638147.2:c.565+4139_565+4142delinsTCCC	ENSP00000490953.2:n.565+4139_565+4142delinsTCCC
ENST00000377453.7:c.713-192_713-189delinsTCCC (CLN5)	ENSP00000366673.3:n.713-192_713-189delinsTCCC
ENST00000477982.2:n.2040_2043delinsGGGA (FBXL3)
ENST00000485797.2:n.174-7318_174-7315delinsGGGA (FBXL3)
ENST00000616833.4:c.566-192_566-189delinsTCCC (CLN5)	ENSP00000479547.1:n.566-192_566-189delinsTCCC
NM_006493.2:c.713-192_713-189delinsTCCC , LRG_692t1:c.713-192_713-189delinsTCCC (CLN5)	NP_006484.1:n.713-192_713-189delinsTCCC
XM_011534917.1:c.*15-192_*15-189delinsTCCC (CLN5)	XP_011533219.1:n.*15-192_*15-189delinsTCCC
NM_001366624.1:c.*15-192_*15-189delinsTCCC (CLN5)	NP_001353553.1:n.*15-192_*15-189delinsTCCC
NM_006493.3:c.566-192_566-189delinsTCCC (CLN5)	NP_006484.2:n.566-192_566-189delinsTCCC
XM_017020538.2:c.644-7318_644-7315delinsGGGA (FBXL3)	XP_016876027.1:n.644-7318_644-7315delinsGGGA
NM_001366624.2:c.*15-192_*15-189delinsTCCC (CLN5)	NP_001353553.1:n.*15-192_*15-189delinsTCCC
NM_006493.4:c.566-192_566-189delinsTCCC (CLN5) MANE Select	NP_006484.2:n.566-192_566-189delinsTCCC