Canonical Allele Identifier: CA2103437388

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001227_77001232delinsGGTTCA , CM000675.2:g.77001227_77001232delinsGGTTCA	GRCh38
NC_000013.10:g.77575362_77575367delinsGGTTCA , CM000675.1:g.77575362_77575367delinsGGTTCA	GRCh37
NC_000013.9:g.76473363_76473368delinsGGTTCA	NCBI36
NG_009064.1:g.14304_14309delinsGGTTCA , LRG_692:g.14304_14309delinsGGTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*258_*263delinsGGTTCA (CLN5) MANE Select	ENSP00000366673.5:n.*258_*263delinsGGTTCA
ENST00000616833.6:c.*777_*782delinsGGTTCA (CLN5)	ENSP00000479547.3:n.*777_*782delinsGGTTCA
ENST00000635838.1:c.174+5100_174+5105delinsGGTTCA
ENST00000635905.1:n.566+5100_566+5105delinsGGTTCA (CLN5)
ENST00000635915.1:c.1333_1338delinsGGTTCA (CLN5)
ENST00000636183.2:c.*258_*263delinsGGTTCA (CLN5)	ENSP00000490181.2:n.*258_*263delinsGGTTCA
ENST00000636525.2:c.565+5100_565+5105delinsGGTTCA (CLN5)	ENSP00000490078.2:n.565+5100_565+5105delinsGGTTCA
ENST00000636681.1:c.*1026_*1031delinsGGTTCA (CLN5)	ENSP00000489922.1:n.*1026_*1031delinsGGTTCA
ENST00000636705.1:c.1171_1176delinsGGTTCA (CLN5)
ENST00000636767.2:c.565+5100_565+5105delinsGGTTCA (CLN5)	ENSP00000489855.2:n.565+5100_565+5105delinsGGTTCA
ENST00000636780.2:c.*784_*789delinsGGTTCA (CLN5)	ENSP00000489809.2:n.*784_*789delinsGGTTCA
ENST00000637192.1:c.213+5100_213+5105delinsGGTTCA
ENST00000637278.1:n.1661_1666delinsGGTTCA (CLN5)
ENST00000637397.2:c.565+5100_565+5105delinsGGTTCA (CLN5)	ENSP00000490422.2:n.565+5100_565+5105delinsGGTTCA
ENST00000638101.1:c.169+5100_169+5105delinsGGTTCA	ENSP00000490535.1:n.169+5100_169+5105delinsGGTTCA
ENST00000638147.2:c.565+5100_565+5105delinsGGTTCA	ENSP00000490953.2:n.565+5100_565+5105delinsGGTTCA
ENST00000377453.7:c.*258_*263delinsGGTTCA (CLN5)	ENSP00000366673.3:n.*258_*263delinsGGTTCA
ENST00000477982.2:n.1077_1082delinsTGAACC (FBXL3)
ENST00000485797.2:n.174-8281_174-8276delinsTGAACC (FBXL3)
ENST00000616833.4:c.*258_*263delinsGGTTCA (CLN5)	ENSP00000479547.1:n.*258_*263delinsGGTTCA
NM_006493.2:c.*258_*263delinsGGTTCA , LRG_692t1:c.*258_*263delinsGGTTCA (CLN5)	NP_006484.1:n.*258_*263delinsGGTTCA
NM_001366624.1:c.*784_*789delinsGGTTCA (CLN5)	NP_001353553.1:n.*784_*789delinsGGTTCA
NM_006493.3:c.*258_*263delinsGGTTCA (CLN5)	NP_006484.2:n.*258_*263delinsGGTTCA
XM_017020538.2:c.644-8281_644-8276delinsTGAACC (FBXL3)	XP_016876027.1:n.644-8281_644-8276delinsTGAACC
NM_001366624.2:c.*784_*789delinsGGTTCA (CLN5)	NP_001353553.1:n.*784_*789delinsGGTTCA
NM_006493.4:c.*258_*263delinsGGTTCA (CLN5) MANE Select	NP_006484.2:n.*258_*263delinsGGTTCA