Canonical Allele Identifier: CA2103428846

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996335_76996340delinsGGTTAT , CM000675.2:g.76996335_76996340delinsGGTTAT	GRCh38
NC_000013.10:g.77570470_77570475delinsGGTTAT , CM000675.1:g.77570470_77570475delinsGGTTAT	GRCh37
NC_000013.9:g.76468471_76468476delinsGGTTAT	NCBI36
NG_009064.1:g.9412_9417delinsGGTTAT , LRG_692:g.9412_9417delinsGGTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+208_565+213delinsGGTTAT (CLN5) MANE Select	ENSP00000366673.5:n.565+208_565+213delinsGGTTAT
ENST00000485938.4:c.*197_*202delinsGGTTAT (CLN5)	ENSP00000482959.3:n.*197_*202delinsGGTTAT
ENST00000616833.6:c.565+208_565+213delinsGGTTAT (CLN5)	ENSP00000479547.3:n.565+208_565+213delinsGGTTAT
ENST00000635838.1:c.174+208_174+213delinsGGTTAT
ENST00000635905.1:n.566+208_566+213delinsGGTTAT (CLN5)
ENST00000635915.1:c.563+208_563+213delinsGGTTAT (CLN5)
ENST00000636183.2:c.565+208_565+213delinsGGTTAT (CLN5)	ENSP00000490181.2:n.565+208_565+213delinsGGTTAT
ENST00000636520.1:n.2285_2290delinsGGTTAT (CLN5)
ENST00000636525.2:c.565+208_565+213delinsGGTTAT (CLN5)	ENSP00000490078.2:n.565+208_565+213delinsGGTTAT
ENST00000636681.1:c.*256+208_*256+213delinsGGTTAT (CLN5)	ENSP00000489922.1:n.*256+208_*256+213delinsGGTTAT
ENST00000636705.1:c.401+208_401+213delinsGGTTAT (CLN5)
ENST00000636767.2:c.565+208_565+213delinsGGTTAT (CLN5)	ENSP00000489855.2:n.565+208_565+213delinsGGTTAT
ENST00000636780.2:c.565+208_565+213delinsGGTTAT (CLN5)	ENSP00000489809.2:n.565+208_565+213delinsGGTTAT
ENST00000637192.1:c.213+208_213+213delinsGGTTAT
ENST00000637278.1:n.891+208_891+213delinsGGTTAT (CLN5)
ENST00000637397.2:c.565+208_565+213delinsGGTTAT (CLN5)	ENSP00000490422.2:n.565+208_565+213delinsGGTTAT
ENST00000637537.2:c.565+208_565+213delinsGGTTAT (CLN5)	ENSP00000489711.2:n.565+208_565+213delinsGGTTAT
ENST00000638101.1:c.169+208_169+213delinsGGTTAT	ENSP00000490535.1:n.169+208_169+213delinsGGTTAT
ENST00000638147.2:c.565+208_565+213delinsGGTTAT	ENSP00000490953.2:n.565+208_565+213delinsGGTTAT
ENST00000377453.7:c.712+208_712+213delinsGGTTAT (CLN5)	ENSP00000366673.3:n.712+208_712+213delinsGGTTAT
ENST00000485797.2:n.174-3389_174-3384delinsATAACC (FBXL3)
ENST00000616833.4:c.565+208_565+213delinsGGTTAT (CLN5)	ENSP00000479547.1:n.565+208_565+213delinsGGTTAT
NM_006493.2:c.712+208_712+213delinsGGTTAT , LRG_692t1:c.712+208_712+213delinsGGTTAT (CLN5)	NP_006484.1:n.712+208_712+213delinsGGTTAT
XM_011534917.1:c.712+208_712+213delinsGGTTAT (CLN5)	XP_011533219.1:n.712+208_712+213delinsGGTTAT
NM_001366624.1:c.565+208_565+213delinsGGTTAT (CLN5)	NP_001353553.1:n.565+208_565+213delinsGGTTAT
NM_006493.3:c.565+208_565+213delinsGGTTAT (CLN5)	NP_006484.2:n.565+208_565+213delinsGGTTAT
XM_017020538.2:c.644-3389_644-3384delinsATAACC (FBXL3)	XP_016876027.1:n.644-3389_644-3384delinsATAACC
NM_001366624.2:c.565+208_565+213delinsGGTTAT (CLN5)	NP_001353553.1:n.565+208_565+213delinsGGTTAT
NM_006493.4:c.565+208_565+213delinsGGTTAT (CLN5) MANE Select	NP_006484.2:n.565+208_565+213delinsGGTTAT