Canonical Allele Identifier: CA611398062

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs1441990133
• gnomAD v2: 13-77570219-CTGG-C
• gnomAD v4: 13-76996084-CTGG-C
• MyVariant Identifiers: chr13:g.77570220_77570222del (hg19) ; chr13:g.76996085_76996087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996085_76996087del , CM000675.2:g.76996085_76996087del	GRCh38
NC_000013.10:g.77570220_77570222del , CM000675.1:g.77570220_77570222del	GRCh37
NC_000013.9:g.76468221_76468223del	NCBI36
NG_009064.1:g.9162_9164del , LRG_692:g.9162_9164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.523_525del (CLN5) MANE Select	ENSP00000366673.5:p.Trp175del
ENST00000485938.4:c.523_525del (CLN5)	ENSP00000482959.3:p.Trp175del
ENST00000616833.6:c.523_525del (CLN5)	ENSP00000479547.3:p.Trp175del
ENST00000635838.1:c.132_134del
ENST00000635905.1:n.524_526del (CLN5)
ENST00000635915.1:c.521_523del (CLN5)
ENST00000635989.1:n.590_592del (CLN5)
ENST00000636183.2:c.523_525del (CLN5)	ENSP00000490181.2:p.Trp175del
ENST00000636520.1:n.2035_2037del (CLN5)
ENST00000636525.2:c.523_525del (CLN5)	ENSP00000490078.2:p.Trp175del
ENST00000636602.1:n.469_471del (CLN5)
ENST00000636681.1:c.*214_*216del (CLN5)	ENSP00000489922.1:n.*214_*216del
ENST00000636705.1:c.359_361del (CLN5)
ENST00000636767.2:c.523_525del (CLN5)	ENSP00000489855.2:p.Trp175del
ENST00000636780.2:c.523_525del (CLN5)	ENSP00000489809.2:p.Trp175del
ENST00000637192.1:c.171_173del
ENST00000637278.1:n.849_851del (CLN5)
ENST00000637397.2:c.523_525del (CLN5)	ENSP00000490422.2:p.Trp175del
ENST00000637537.2:c.523_525del (CLN5)	ENSP00000489711.2:p.Trp175del
ENST00000638101.1:c.127_129del	ENSP00000490535.1:p.Trp43del
ENST00000638147.2:c.523_525del	ENSP00000490953.2:p.Trp175del
ENST00000377453.7:c.670_672del (CLN5)	ENSP00000366673.3:p.Trp224del
ENST00000485797.2:n.174-3136_174-3134del (FBXL3)
ENST00000485938.2:c.506_508del (CLN5)
ENST00000616833.4:c.523_525del (CLN5)	ENSP00000479547.1:p.Trp175del
NM_006493.2:c.670_672del , LRG_692t1:c.670_672del (CLN5)	NP_006484.1:p.Trp224del
XM_011534917.1:c.670_672del (CLN5)	XP_011533219.1:p.Trp224del
NM_001366624.1:c.523_525del (CLN5)	NP_001353553.1:p.Trp175del
NM_006493.3:c.523_525del (CLN5)	NP_006484.2:p.Trp175del
XM_017020538.2:c.644-3136_644-3134del (FBXL3)	XP_016876027.1:n.644-3136_644-3134del
NM_001366624.2:c.523_525del (CLN5)	NP_001353553.1:p.Trp175del
NM_006493.4:c.523_525del (CLN5) MANE Select	NP_006484.2:p.Trp175del