Canonical Allele Identifier: CA2623305043

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77001094-A-AATTCTGCTGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001094_77001095insATTCTGCTGAT , CM000675.2:g.77001094_77001095insATTCTGCTGAT	GRCh38
NC_000013.10:g.77575229_77575230insATTCTGCTGAT , CM000675.1:g.77575229_77575230insATTCTGCTGAT	GRCh37
NC_000013.9:g.76473230_76473231insATTCTGCTGAT	NCBI36
NG_009064.1:g.14171_14172insATTCTGCTGAT , LRG_692:g.14171_14172insATTCTGCTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*125_*126insATTCTGCTGAT (CLN5) MANE Select	ENSP00000366673.5:n.*125_*126insATTCTGCTGAT
ENST00000616833.6:c.*644_*645insATTCTGCTGAT (CLN5)	ENSP00000479547.3:n.*644_*645insATTCTGCTGAT
ENST00000635838.1:c.174+4967_174+4968insATTCTGCTGAT
ENST00000635905.1:n.566+4967_566+4968insATTCTGCTGAT (CLN5)
ENST00000635915.1:c.1200_1201insATTCTGCTGAT (CLN5)
ENST00000636183.2:c.*125_*126insATTCTGCTGAT (CLN5)	ENSP00000490181.2:n.*125_*126insATTCTGCTGAT
ENST00000636525.2:c.565+4967_565+4968insATTCTGCTGAT (CLN5)	ENSP00000490078.2:n.565+4967_565+4968insATTCTGCTGAT
ENST00000636681.1:c.*893_*894insATTCTGCTGAT (CLN5)	ENSP00000489922.1:n.*893_*894insATTCTGCTGAT
ENST00000636705.1:c.1038_1039insATTCTGCTGAT (CLN5)
ENST00000636767.2:c.565+4967_565+4968insATTCTGCTGAT (CLN5)	ENSP00000489855.2:n.565+4967_565+4968insATTCTGCTGAT
ENST00000636780.2:c.*651_*652insATTCTGCTGAT (CLN5)	ENSP00000489809.2:n.*651_*652insATTCTGCTGAT
ENST00000637192.1:c.213+4967_213+4968insATTCTGCTGAT
ENST00000637278.1:n.1528_1529insATTCTGCTGAT (CLN5)
ENST00000637397.2:c.565+4967_565+4968insATTCTGCTGAT (CLN5)	ENSP00000490422.2:n.565+4967_565+4968insATTCTGCTGAT
ENST00000638101.1:c.169+4967_169+4968insATTCTGCTGAT	ENSP00000490535.1:n.169+4967_169+4968insATTCTGCTGAT
ENST00000638147.2:c.565+4967_565+4968insATTCTGCTGAT	ENSP00000490953.2:n.565+4967_565+4968insATTCTGCTGAT
ENST00000377453.7:c.*125_*126insATTCTGCTGAT (CLN5)	ENSP00000366673.3:n.*125_*126insATTCTGCTGAT
ENST00000477982.2:n.1214_1215insATCAGCAGAAT (FBXL3)
ENST00000485797.2:n.174-8144_174-8143insATCAGCAGAAT (FBXL3)
ENST00000616833.4:c.*125_*126insATTCTGCTGAT (CLN5)	ENSP00000479547.1:n.*125_*126insATTCTGCTGAT
NM_006493.2:c.*125_*126insATTCTGCTGAT , LRG_692t1:c.*125_*126insATTCTGCTGAT (CLN5)	NP_006484.1:n.*125_*126insATTCTGCTGAT
NM_001366624.1:c.*651_*652insATTCTGCTGAT (CLN5)	NP_001353553.1:n.*651_*652insATTCTGCTGAT
NM_006493.3:c.*125_*126insATTCTGCTGAT (CLN5)	NP_006484.2:n.*125_*126insATTCTGCTGAT
XM_017020538.2:c.644-8144_644-8143insATCAGCAGAAT (FBXL3)	XP_016876027.1:n.644-8144_644-8143insATCAGCAGAAT
NM_001366624.2:c.*651_*652insATTCTGCTGAT (CLN5)	NP_001353553.1:n.*651_*652insATTCTGCTGAT
NM_006493.4:c.*125_*126insATTCTGCTGAT (CLN5) MANE Select	NP_006484.2:n.*125_*126insATTCTGCTGAT