Canonical Allele Identifier: CA2623303578

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000383-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000383_77000384insTA , CM000675.2:g.77000383_77000384insTA	GRCh38
NC_000013.10:g.77574518_77574519insTA , CM000675.1:g.77574518_77574519insTA	GRCh37
NC_000013.9:g.76472519_76472520insTA	NCBI36
NG_009064.1:g.13460_13461insTA , LRG_692:g.13460_13461insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-75_566-74insTA (CLN5) MANE Select	ENSP00000366673.5:n.566-75_566-74insTA
ENST00000616833.6:c.*8-75_*8-74insTA (CLN5)	ENSP00000479547.3:n.*8-75_*8-74insTA
ENST00000635838.1:c.174+4256_174+4257insTA
ENST00000635905.1:n.566+4256_566+4257insTA (CLN5)
ENST00000635915.1:c.564-75_564-74insTA (CLN5)
ENST00000636183.2:c.566-75_566-74insTA (CLN5)	ENSP00000490181.2:n.566-75_566-74insTA
ENST00000636525.2:c.565+4256_565+4257insTA (CLN5)	ENSP00000490078.2:n.565+4256_565+4257insTA
ENST00000636681.1:c.*257-75_*257-74insTA (CLN5)	ENSP00000489922.1:n.*257-75_*257-74insTA
ENST00000636705.1:c.402-75_402-74insTA (CLN5)
ENST00000636767.2:c.565+4256_565+4257insTA (CLN5)	ENSP00000489855.2:n.565+4256_565+4257insTA
ENST00000636780.2:c.*15-75_*15-74insTA (CLN5)	ENSP00000489809.2:n.*15-75_*15-74insTA
ENST00000637192.1:c.213+4256_213+4257insTA
ENST00000637278.1:n.892-75_892-74insTA (CLN5)
ENST00000637397.2:c.565+4256_565+4257insTA (CLN5)	ENSP00000490422.2:n.565+4256_565+4257insTA
ENST00000638101.1:c.169+4256_169+4257insTA	ENSP00000490535.1:n.169+4256_169+4257insTA
ENST00000638147.2:c.565+4256_565+4257insTA	ENSP00000490953.2:n.565+4256_565+4257insTA
ENST00000377453.7:c.713-75_713-74insTA (CLN5)	ENSP00000366673.3:n.713-75_713-74insTA
ENST00000477982.2:n.1925_1926insTA (FBXL3)
ENST00000485797.2:n.174-7433_174-7432insTA (FBXL3)
ENST00000616833.4:c.566-75_566-74insTA (CLN5)	ENSP00000479547.1:n.566-75_566-74insTA
NM_006493.2:c.713-75_713-74insTA , LRG_692t1:c.713-75_713-74insTA (CLN5)	NP_006484.1:n.713-75_713-74insTA
XM_011534917.1:c.*15-75_*15-74insTA (CLN5)	XP_011533219.1:n.*15-75_*15-74insTA
NM_001366624.1:c.*15-75_*15-74insTA (CLN5)	NP_001353553.1:n.*15-75_*15-74insTA
NM_006493.3:c.566-75_566-74insTA (CLN5)	NP_006484.2:n.566-75_566-74insTA
XM_017020538.2:c.644-7433_644-7432insTA (FBXL3)	XP_016876027.1:n.644-7433_644-7432insTA
NM_001366624.2:c.*15-75_*15-74insTA (CLN5)	NP_001353553.1:n.*15-75_*15-74insTA
NM_006493.4:c.566-75_566-74insTA (CLN5) MANE Select	NP_006484.2:n.566-75_566-74insTA