Canonical Allele Identifier: CA2103434403

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000213_77000216delinsTAAA , CM000675.2:g.77000213_77000216delinsTAAA	GRCh38
NC_000013.10:g.77574348_77574351delinsTAAA , CM000675.1:g.77574348_77574351delinsTAAA	GRCh37
NC_000013.9:g.76472349_76472352delinsTAAA	NCBI36
NG_009064.1:g.13290_13293delinsTAAA , LRG_692:g.13290_13293delinsTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-245_566-242delinsTAAA (CLN5) MANE Select	ENSP00000366673.5:n.566-245_566-242delinsTAAA
ENST00000616833.6:c.*7+218_*7+221delinsTAAA (CLN5)	ENSP00000479547.3:n.*7+218_*7+221delinsTAAA
ENST00000635761.1:n.379_382delinsTAAA (CLN5)
ENST00000635838.1:c.174+4086_174+4089delinsTAAA
ENST00000635905.1:n.566+4086_566+4089delinsTAAA (CLN5)
ENST00000635915.1:c.564-245_564-242delinsTAAA (CLN5)
ENST00000636183.2:c.566-245_566-242delinsTAAA (CLN5)	ENSP00000490181.2:n.566-245_566-242delinsTAAA
ENST00000636525.2:c.565+4086_565+4089delinsTAAA (CLN5)	ENSP00000490078.2:n.565+4086_565+4089delinsTAAA
ENST00000636681.1:c.*257-245_*257-242delinsTAAA (CLN5)	ENSP00000489922.1:n.*257-245_*257-242delinsTAAA
ENST00000636705.1:c.402-245_402-242delinsTAAA (CLN5)
ENST00000636767.2:c.565+4086_565+4089delinsTAAA (CLN5)	ENSP00000489855.2:n.565+4086_565+4089delinsTAAA
ENST00000636780.2:c.*15-245_*15-242delinsTAAA (CLN5)	ENSP00000489809.2:n.*15-245_*15-242delinsTAAA
ENST00000637192.1:c.213+4086_213+4089delinsTAAA
ENST00000637278.1:n.892-245_892-242delinsTAAA (CLN5)
ENST00000637397.2:c.565+4086_565+4089delinsTAAA (CLN5)	ENSP00000490422.2:n.565+4086_565+4089delinsTAAA
ENST00000638101.1:c.169+4086_169+4089delinsTAAA	ENSP00000490535.1:n.169+4086_169+4089delinsTAAA
ENST00000638147.2:c.565+4086_565+4089delinsTAAA	ENSP00000490953.2:n.565+4086_565+4089delinsTAAA
ENST00000377453.7:c.713-245_713-242delinsTAAA (CLN5)	ENSP00000366673.3:n.713-245_713-242delinsTAAA
ENST00000477982.2:n.2093_2096delinsTTTA (FBXL3)
ENST00000485797.2:n.174-7265_174-7262delinsTTTA (FBXL3)
ENST00000616833.4:c.566-245_566-242delinsTAAA (CLN5)	ENSP00000479547.1:n.566-245_566-242delinsTAAA
NM_006493.2:c.713-245_713-242delinsTAAA , LRG_692t1:c.713-245_713-242delinsTAAA (CLN5)	NP_006484.1:n.713-245_713-242delinsTAAA
XM_011534917.1:c.*15-245_*15-242delinsTAAA (CLN5)	XP_011533219.1:n.*15-245_*15-242delinsTAAA
NM_001366624.1:c.*15-245_*15-242delinsTAAA (CLN5)	NP_001353553.1:n.*15-245_*15-242delinsTAAA
NM_006493.3:c.566-245_566-242delinsTAAA (CLN5)	NP_006484.2:n.566-245_566-242delinsTAAA
XM_017020538.2:c.644-7265_644-7262delinsTTTA (FBXL3)	XP_016876027.1:n.644-7265_644-7262delinsTTTA
NM_001366624.2:c.*15-245_*15-242delinsTAAA (CLN5)	NP_001353553.1:n.*15-245_*15-242delinsTAAA
NM_006493.4:c.566-245_566-242delinsTAAA (CLN5) MANE Select	NP_006484.2:n.566-245_566-242delinsTAAA