Canonical Allele Identifier: CA2623305047

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001098-T-TTCTGCTGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001099_77001100insCTGCTGATGT , CM000675.2:g.77001099_77001100insCTGCTGATGT	GRCh38
NC_000013.10:g.77575234_77575235insCTGCTGATGT , CM000675.1:g.77575234_77575235insCTGCTGATGT	GRCh37
NC_000013.9:g.76473235_76473236insCTGCTGATGT	NCBI36
NG_009064.1:g.14176_14177insCTGCTGATGT , LRG_692:g.14176_14177insCTGCTGATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*130_*131insCTGCTGATGT (CLN5) MANE Select	ENSP00000366673.5:n.*130_*131insCTGCTGATGT
ENST00000616833.6:c.*649_*650insCTGCTGATGT (CLN5)	ENSP00000479547.3:n.*649_*650insCTGCTGATGT
ENST00000635838.1:c.174+4972_174+4973insCTGCTGATGT
ENST00000635905.1:n.566+4972_566+4973insCTGCTGATGT (CLN5)
ENST00000635915.1:c.1205_1206insCTGCTGATGT (CLN5)
ENST00000636183.2:c.*130_*131insCTGCTGATGT (CLN5)	ENSP00000490181.2:n.*130_*131insCTGCTGATGT
ENST00000636525.2:c.565+4972_565+4973insCTGCTGATGT (CLN5)	ENSP00000490078.2:n.565+4972_565+4973insCTGCTGATGT
ENST00000636681.1:c.*898_*899insCTGCTGATGT (CLN5)	ENSP00000489922.1:n.*898_*899insCTGCTGATGT
ENST00000636705.1:c.1043_1044insCTGCTGATGT (CLN5)
ENST00000636767.2:c.565+4972_565+4973insCTGCTGATGT (CLN5)	ENSP00000489855.2:n.565+4972_565+4973insCTGCTGATGT
ENST00000636780.2:c.*656_*657insCTGCTGATGT (CLN5)	ENSP00000489809.2:n.*656_*657insCTGCTGATGT
ENST00000637192.1:c.213+4972_213+4973insCTGCTGATGT
ENST00000637278.1:n.1533_1534insCTGCTGATGT (CLN5)
ENST00000637397.2:c.565+4972_565+4973insCTGCTGATGT (CLN5)	ENSP00000490422.2:n.565+4972_565+4973insCTGCTGATGT
ENST00000638101.1:c.169+4972_169+4973insCTGCTGATGT	ENSP00000490535.1:n.169+4972_169+4973insCTGCTGATGT
ENST00000638147.2:c.565+4972_565+4973insCTGCTGATGT	ENSP00000490953.2:n.565+4972_565+4973insCTGCTGATGT
ENST00000377453.7:c.*130_*131insCTGCTGATGT (CLN5)	ENSP00000366673.3:n.*130_*131insCTGCTGATGT
ENST00000477982.2:n.1210_1211insCATCAGCAGA (FBXL3)
ENST00000485797.2:n.174-8148_174-8147insCATCAGCAGA (FBXL3)
ENST00000616833.4:c.*130_*131insCTGCTGATGT (CLN5)	ENSP00000479547.1:n.*130_*131insCTGCTGATGT
NM_006493.2:c.*130_*131insCTGCTGATGT , LRG_692t1:c.*130_*131insCTGCTGATGT (CLN5)	NP_006484.1:n.*130_*131insCTGCTGATGT
NM_001366624.1:c.*656_*657insCTGCTGATGT (CLN5)	NP_001353553.1:n.*656_*657insCTGCTGATGT
NM_006493.3:c.*130_*131insCTGCTGATGT (CLN5)	NP_006484.2:n.*130_*131insCTGCTGATGT
XM_017020538.2:c.644-8148_644-8147insCATCAGCAGA (FBXL3)	XP_016876027.1:n.644-8148_644-8147insCATCAGCAGA
NM_001366624.2:c.*656_*657insCTGCTGATGT (CLN5)	NP_001353553.1:n.*656_*657insCTGCTGATGT
NM_006493.4:c.*130_*131insCTGCTGATGT (CLN5) MANE Select	NP_006484.2:n.*130_*131insCTGCTGATGT