Canonical Allele Identifier: CA2799793699

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000180_77000182del , CM000675.2:g.77000180_77000182del	GRCh38
NC_000013.10:g.77574315_77574317del , CM000675.1:g.77574315_77574317del	GRCh37
NC_000013.9:g.76472316_76472318del	NCBI36
NG_009064.1:g.13257_13259del , LRG_692:g.13257_13259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-278_566-276del (CLN5) MANE Select	ENSP00000366673.5:n.566-278_566-276del
ENST00000616833.6:c.*7+185_*7+187del (CLN5)	ENSP00000479547.3:n.*7+185_*7+187del
ENST00000635761.1:n.366-20_366-18del (CLN5)
ENST00000635838.1:c.174+4053_174+4055del
ENST00000635905.1:n.566+4053_566+4055del (CLN5)
ENST00000635915.1:c.564-278_564-276del (CLN5)
ENST00000636183.2:c.566-278_566-276del (CLN5)	ENSP00000490181.2:n.566-278_566-276del
ENST00000636525.2:c.565+4053_565+4055del (CLN5)	ENSP00000490078.2:n.565+4053_565+4055del
ENST00000636681.1:c.*257-278_*257-276del (CLN5)	ENSP00000489922.1:n.*257-278_*257-276del
ENST00000636705.1:c.402-278_402-276del (CLN5)
ENST00000636767.2:c.565+4053_565+4055del (CLN5)	ENSP00000489855.2:n.565+4053_565+4055del
ENST00000636780.2:c.*15-278_*15-276del (CLN5)	ENSP00000489809.2:n.*15-278_*15-276del
ENST00000637192.1:c.213+4053_213+4055del
ENST00000637278.1:n.892-278_892-276del (CLN5)
ENST00000637397.2:c.565+4053_565+4055del (CLN5)	ENSP00000490422.2:n.565+4053_565+4055del
ENST00000638101.1:c.169+4053_169+4055del	ENSP00000490535.1:n.169+4053_169+4055del
ENST00000638147.2:c.565+4053_565+4055del	ENSP00000490953.2:n.565+4053_565+4055del
ENST00000377453.7:c.713-278_713-276del (CLN5)	ENSP00000366673.3:n.713-278_713-276del
ENST00000477982.2:n.2127_2129del (FBXL3)
ENST00000485797.2:n.174-7231_174-7229del (FBXL3)
ENST00000616833.4:c.566-278_566-276del (CLN5)	ENSP00000479547.1:n.566-278_566-276del
NM_006493.2:c.713-278_713-276del , LRG_692t1:c.713-278_713-276del (CLN5)	NP_006484.1:n.713-278_713-276del
XM_011534917.1:c.*15-278_*15-276del (CLN5)	XP_011533219.1:n.*15-278_*15-276del
NM_001366624.1:c.*15-278_*15-276del (CLN5)	NP_001353553.1:n.*15-278_*15-276del
NM_006493.3:c.566-278_566-276del (CLN5)	NP_006484.2:n.566-278_566-276del
XM_017020538.2:c.644-7231_644-7229del (FBXL3)	XP_016876027.1:n.644-7231_644-7229del
NM_001366624.2:c.*15-278_*15-276del (CLN5)	NP_001353553.1:n.*15-278_*15-276del
NM_006493.4:c.566-278_566-276del (CLN5) MANE Select	NP_006484.2:n.566-278_566-276del