Canonical Allele Identifier: CA701028097

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1456228647
• gnomAD v3: 13-77001227-GGTTCA-G
• gnomAD v4: 13-77001227-GGTTCA-G
• MyVariant Identifiers: chr13:g.77575363_77575367del (hg19) ; chr13:g.77001228_77001232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001228_77001232del , CM000675.2:g.77001228_77001232del	GRCh38
NC_000013.10:g.77575363_77575367del , CM000675.1:g.77575363_77575367del	GRCh37
NC_000013.9:g.76473364_76473368del	NCBI36
NG_009064.1:g.14305_14309del , LRG_692:g.14305_14309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*259_*263del (CLN5) MANE Select	ENSP00000366673.5:n.*259_*263del
ENST00000616833.6:c.*778_*782del (CLN5)	ENSP00000479547.3:n.*778_*782del
ENST00000635838.1:c.174+5101_174+5105del
ENST00000635905.1:n.566+5101_566+5105del (CLN5)
ENST00000635915.1:c.1334_1338del (CLN5)
ENST00000636183.2:c.*259_*263del (CLN5)	ENSP00000490181.2:n.*259_*263del
ENST00000636525.2:c.565+5101_565+5105del (CLN5)	ENSP00000490078.2:n.565+5101_565+5105del
ENST00000636681.1:c.*1027_*1031del (CLN5)	ENSP00000489922.1:n.*1027_*1031del
ENST00000636705.1:c.1172_1176del (CLN5)
ENST00000636767.2:c.565+5101_565+5105del (CLN5)	ENSP00000489855.2:n.565+5101_565+5105del
ENST00000636780.2:c.*785_*789del (CLN5)	ENSP00000489809.2:n.*785_*789del
ENST00000637192.1:c.213+5101_213+5105del
ENST00000637278.1:n.1662_1666del (CLN5)
ENST00000637397.2:c.565+5101_565+5105del (CLN5)	ENSP00000490422.2:n.565+5101_565+5105del
ENST00000638101.1:c.169+5101_169+5105del	ENSP00000490535.1:n.169+5101_169+5105del
ENST00000638147.2:c.565+5101_565+5105del	ENSP00000490953.2:n.565+5101_565+5105del
ENST00000377453.7:c.*259_*263del (CLN5)	ENSP00000366673.3:n.*259_*263del
ENST00000477982.2:n.1077_1081del (FBXL3)
ENST00000485797.2:n.174-8281_174-8277del (FBXL3)
ENST00000616833.4:c.*259_*263del (CLN5)	ENSP00000479547.1:n.*259_*263del
NM_006493.2:c.*259_*263del , LRG_692t1:c.*259_*263del (CLN5)	NP_006484.1:n.*259_*263del
NM_001366624.1:c.*785_*789del (CLN5)	NP_001353553.1:n.*785_*789del
NM_006493.3:c.*259_*263del (CLN5)	NP_006484.2:n.*259_*263del
XM_017020538.2:c.644-8281_644-8277del (FBXL3)	XP_016876027.1:n.644-8281_644-8277del
NM_001366624.2:c.*785_*789del (CLN5)	NP_001353553.1:n.*785_*789del
NM_006493.4:c.*259_*263del (CLN5) MANE Select	NP_006484.2:n.*259_*263del