Canonical Allele Identifier: CA2623303080

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000218-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000222_77000225del , CM000675.2:g.77000222_77000225del	GRCh38
NC_000013.10:g.77574357_77574360del , CM000675.1:g.77574357_77574360del	GRCh37
NC_000013.9:g.76472358_76472361del	NCBI36
NG_009064.1:g.13299_13302del , LRG_692:g.13299_13302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-236_566-233del (CLN5) MANE Select	ENSP00000366673.5:n.566-236_566-233del
ENST00000616833.6:c.*7+227_*7+230del (CLN5)	ENSP00000479547.3:n.*7+227_*7+230del
ENST00000635761.1:n.388_391del (CLN5)
ENST00000635838.1:c.174+4095_174+4098del
ENST00000635905.1:n.566+4095_566+4098del (CLN5)
ENST00000635915.1:c.564-236_564-233del (CLN5)
ENST00000636183.2:c.566-236_566-233del (CLN5)	ENSP00000490181.2:n.566-236_566-233del
ENST00000636525.2:c.565+4095_565+4098del (CLN5)	ENSP00000490078.2:n.565+4095_565+4098del
ENST00000636681.1:c.*257-236_*257-233del (CLN5)	ENSP00000489922.1:n.*257-236_*257-233del
ENST00000636705.1:c.402-236_402-233del (CLN5)
ENST00000636767.2:c.565+4095_565+4098del (CLN5)	ENSP00000489855.2:n.565+4095_565+4098del
ENST00000636780.2:c.*15-236_*15-233del (CLN5)	ENSP00000489809.2:n.*15-236_*15-233del
ENST00000637192.1:c.213+4095_213+4098del
ENST00000637278.1:n.892-236_892-233del (CLN5)
ENST00000637397.2:c.565+4095_565+4098del (CLN5)	ENSP00000490422.2:n.565+4095_565+4098del
ENST00000638101.1:c.169+4095_169+4098del	ENSP00000490535.1:n.169+4095_169+4098del
ENST00000638147.2:c.565+4095_565+4098del	ENSP00000490953.2:n.565+4095_565+4098del
ENST00000377453.7:c.713-236_713-233del (CLN5)	ENSP00000366673.3:n.713-236_713-233del
ENST00000477982.2:n.2087_2090del (FBXL3)
ENST00000485797.2:n.174-7271_174-7268del (FBXL3)
ENST00000616833.4:c.566-236_566-233del (CLN5)	ENSP00000479547.1:n.566-236_566-233del
NM_006493.2:c.713-236_713-233del , LRG_692t1:c.713-236_713-233del (CLN5)	NP_006484.1:n.713-236_713-233del
XM_011534917.1:c.*15-236_*15-233del (CLN5)	XP_011533219.1:n.*15-236_*15-233del
NM_001366624.1:c.*15-236_*15-233del (CLN5)	NP_001353553.1:n.*15-236_*15-233del
NM_006493.3:c.566-236_566-233del (CLN5)	NP_006484.2:n.566-236_566-233del
XM_017020538.2:c.644-7271_644-7268del (FBXL3)	XP_016876027.1:n.644-7271_644-7268del
NM_001366624.2:c.*15-236_*15-233del (CLN5)	NP_001353553.1:n.*15-236_*15-233del
NM_006493.4:c.566-236_566-233del (CLN5) MANE Select	NP_006484.2:n.566-236_566-233del