Canonical Allele Identifier: CA2103427973

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995979_76995987delinsCCAACTTGG , CM000675.2:g.76995979_76995987delinsCCAACTTGG	GRCh38
NC_000013.10:g.77570114_77570122delinsCCAACTTGG , CM000675.1:g.77570114_77570122delinsCCAACTTGG	GRCh37
NC_000013.9:g.76468115_76468123delinsCCAACTTGG	NCBI36
NG_009064.1:g.9056_9064delinsCCAACTTGG , LRG_692:g.9056_9064delinsCCAACTTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.417_425delinsCCAACTTGG (CLN5) MANE Select	ENSP00000366673.5:p.Phe139=
ENST00000485938.4:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000482959.3:p.Phe139=
ENST00000616833.6:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000479547.3:p.Phe139=
ENST00000635838.1:c.26_34delinsCCAACTTGG
ENST00000635905.1:n.418_426delinsCCAACTTGG (CLN5)
ENST00000635915.1:c.415_423delinsCCAACTTGG (CLN5)
ENST00000635989.1:n.484_492delinsCCAACTTGG (CLN5)
ENST00000636183.2:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000490181.2:p.Phe139=
ENST00000636520.1:n.1929_1937delinsCCAACTTGG (CLN5)
ENST00000636525.2:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000490078.2:p.Phe139=
ENST00000636602.1:n.363_371delinsCCAACTTGG (CLN5)
ENST00000636681.1:c.*108_*116delinsCCAACTTGG (CLN5)	ENSP00000489922.1:n.*108_*116delinsCCAACT...
ENST00000636705.1:c.253_261delinsCCAACTTGG (CLN5)
ENST00000636767.2:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000489855.2:p.Phe139=
ENST00000636780.2:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000489809.2:p.Phe139=
ENST00000637192.1:c.65_73delinsCCAACTTGG
ENST00000637278.1:n.743_751delinsCCAACTTGG (CLN5)
ENST00000637397.2:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000490422.2:p.Phe139=
ENST00000637537.2:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000489711.2:p.Phe139=
ENST00000638101.1:c.21_29delinsCCAACTTGG	ENSP00000490535.1:p.Phe7=
ENST00000638147.2:c.417_425delinsCCAACTTGG	ENSP00000490953.2:p.Phe139=
ENST00000377453.7:c.564_572delinsCCAACTTGG (CLN5)	ENSP00000366673.3:p.Phe188=
ENST00000485797.2:n.174-3036_174-3028delinsCCAAGTTGG (FBXL3)
ENST00000485938.2:c.400_408delinsCCAACTTGG (CLN5)
ENST00000616833.4:c.417_425delinsCCAACTTGG (CLN5)	ENSP00000479547.1:p.Phe139=
NM_006493.2:c.564_572delinsCCAACTTGG , LRG_692t1:c.564_572delinsCCAACTTGG (CLN5)	NP_006484.1:p.Phe188=
XM_011534917.1:c.564_572delinsCCAACTTGG (CLN5)	XP_011533219.1:p.Phe188=
NM_001366624.1:c.417_425delinsCCAACTTGG (CLN5)	NP_001353553.1:p.Phe139=
NM_006493.3:c.417_425delinsCCAACTTGG (CLN5)	NP_006484.2:p.Phe139=
XM_017020538.2:c.644-3036_644-3028delinsCCAAGTTGG (FBXL3)	XP_016876027.1:n.644-3036_644-3028delinsC...
NM_001366624.2:c.417_425delinsCCAACTTGG (CLN5)	NP_001353553.1:p.Phe139=
NM_006493.4:c.417_425delinsCCAACTTGG (CLN5) MANE Select	NP_006484.2:p.Phe139=