Canonical Allele Identifier: CA2103435031

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000482_77000486delinsAGTGG , CM000675.2:g.77000482_77000486delinsAGTGG	GRCh38
NC_000013.10:g.77574617_77574621delinsAGTGG , CM000675.1:g.77574617_77574621delinsAGTGG	GRCh37
NC_000013.9:g.76472618_76472622delinsAGTGG	NCBI36
NG_009064.1:g.13559_13563delinsAGTGG , LRG_692:g.13559_13563delinsAGTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.590_594delinsAGTGG (CLN5) MANE Select	ENSP00000366673.5:p.Lys197=
ENST00000616833.6:c.*32_*36delinsAGTGG (CLN5)	ENSP00000479547.3:n.*32_*36delinsAGTGG
ENST00000635838.1:c.174+4355_174+4359delinsAGTGG
ENST00000635905.1:n.566+4355_566+4359delinsAGTGG (CLN5)
ENST00000635915.1:c.588_592delinsAGTGG (CLN5)
ENST00000636183.2:c.590_594delinsAGTGG (CLN5)	ENSP00000490181.2:p.Lys197=
ENST00000636525.2:c.565+4355_565+4359delinsAGTGG (CLN5)	ENSP00000490078.2:n.565+4355_565+4359deli...
ENST00000636681.1:c.*281_*285delinsAGTGG (CLN5)	ENSP00000489922.1:n.*281_*285delinsAGTGG
ENST00000636705.1:c.426_430delinsAGTGG (CLN5)
ENST00000636767.2:c.565+4355_565+4359delinsAGTGG (CLN5)	ENSP00000489855.2:n.565+4355_565+4359deli...
ENST00000636780.2:c.*39_*43delinsAGTGG (CLN5)	ENSP00000489809.2:n.*39_*43delinsAGTGG
ENST00000637192.1:c.213+4355_213+4359delinsAGTGG
ENST00000637278.1:n.916_920delinsAGTGG (CLN5)
ENST00000637397.2:c.565+4355_565+4359delinsAGTGG (CLN5)	ENSP00000490422.2:n.565+4355_565+4359deli...
ENST00000638101.1:c.169+4355_169+4359delinsAGTGG	ENSP00000490535.1:n.169+4355_169+4359deli...
ENST00000638147.2:c.565+4355_565+4359delinsAGTGG	ENSP00000490953.2:n.565+4355_565+4359deli...
ENST00000377453.7:c.737_741delinsAGTGG (CLN5)	ENSP00000366673.3:p.Lys246=
ENST00000477982.2:n.1823_1827delinsCCACT (FBXL3)
ENST00000485797.2:n.174-7535_174-7531delinsCCACT (FBXL3)
ENST00000616833.4:c.590_594delinsAGTGG (CLN5)	ENSP00000479547.1:p.Lys197=
NM_006493.2:c.737_741delinsAGTGG , LRG_692t1:c.737_741delinsAGTGG (CLN5)	NP_006484.1:p.Lys246=
XM_011534917.1:c.*39_*43delinsAGTGG (CLN5)	XP_011533219.1:n.*39_*43delinsAGTGG
NM_001366624.1:c.*39_*43delinsAGTGG (CLN5)	NP_001353553.1:n.*39_*43delinsAGTGG
NM_006493.3:c.590_594delinsAGTGG (CLN5)	NP_006484.2:p.Lys197=
XM_017020538.2:c.644-7535_644-7531delinsCCACT (FBXL3)	XP_016876027.1:n.644-7535_644-7531delinsC...
NM_001366624.2:c.*39_*43delinsAGTGG (CLN5)	NP_001353553.1:n.*39_*43delinsAGTGG
NM_006493.4:c.590_594delinsAGTGG (CLN5) MANE Select	NP_006484.2:p.Lys197=