Canonical Allele Identifier: CA252177481

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs879845206
• gnomAD v2: 13-77574394-CCTGT-C
• gnomAD v3: 13-77000259-CCTGT-C
• gnomAD v4: 13-77000259-CCTGT-C
• MyVariant Identifiers: chr13:g.77574395_77574398del (hg19) ; chr13:g.77000260_77000263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000260_77000263del , CM000675.2:g.77000260_77000263del	GRCh38
NC_000013.10:g.77574395_77574398del , CM000675.1:g.77574395_77574398del	GRCh37
NC_000013.9:g.76472396_76472399del	NCBI36
NG_009064.1:g.13337_13340del , LRG_692:g.13337_13340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-198_566-195del (CLN5) MANE Select	ENSP00000366673.5:n.566-198_566-195del
ENST00000616833.6:c.*8-198_*8-195del (CLN5)	ENSP00000479547.3:n.*8-198_*8-195del
ENST00000635761.1:n.426_429del (CLN5)
ENST00000635838.1:c.174+4133_174+4136del
ENST00000635905.1:n.566+4133_566+4136del (CLN5)
ENST00000635915.1:c.564-198_564-195del (CLN5)
ENST00000636183.2:c.566-198_566-195del (CLN5)	ENSP00000490181.2:n.566-198_566-195del
ENST00000636525.2:c.565+4133_565+4136del (CLN5)	ENSP00000490078.2:n.565+4133_565+4136del
ENST00000636681.1:c.*257-198_*257-195del (CLN5)	ENSP00000489922.1:n.*257-198_*257-195del
ENST00000636705.1:c.402-198_402-195del (CLN5)
ENST00000636767.2:c.565+4133_565+4136del (CLN5)	ENSP00000489855.2:n.565+4133_565+4136del
ENST00000636780.2:c.*15-198_*15-195del (CLN5)	ENSP00000489809.2:n.*15-198_*15-195del
ENST00000637192.1:c.213+4133_213+4136del
ENST00000637278.1:n.892-198_892-195del (CLN5)
ENST00000637397.2:c.565+4133_565+4136del (CLN5)	ENSP00000490422.2:n.565+4133_565+4136del
ENST00000638101.1:c.169+4133_169+4136del	ENSP00000490535.1:n.169+4133_169+4136del
ENST00000638147.2:c.565+4133_565+4136del	ENSP00000490953.2:n.565+4133_565+4136del
ENST00000377453.7:c.713-198_713-195del (CLN5)	ENSP00000366673.3:n.713-198_713-195del
ENST00000477982.2:n.2046_2049del (FBXL3)
ENST00000485797.2:n.174-7312_174-7309del (FBXL3)
ENST00000616833.4:c.566-198_566-195del (CLN5)	ENSP00000479547.1:n.566-198_566-195del
NM_006493.2:c.713-198_713-195del , LRG_692t1:c.713-198_713-195del (CLN5)	NP_006484.1:n.713-198_713-195del
XM_011534917.1:c.*15-198_*15-195del (CLN5)	XP_011533219.1:n.*15-198_*15-195del
NM_001366624.1:c.*15-198_*15-195del (CLN5)	NP_001353553.1:n.*15-198_*15-195del
NM_006493.3:c.566-198_566-195del (CLN5)	NP_006484.2:n.566-198_566-195del
XM_017020538.2:c.644-7312_644-7309del (FBXL3)	XP_016876027.1:n.644-7312_644-7309del
NM_001366624.2:c.*15-198_*15-195del (CLN5)	NP_001353553.1:n.*15-198_*15-195del
NM_006493.4:c.566-198_566-195del (CLN5) MANE Select	NP_006484.2:n.566-198_566-195del