Canonical Allele Identifier: CA2103435951

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000728_77000732delinsCAGGA , CM000675.2:g.77000728_77000732delinsCAGGA	GRCh38
NC_000013.10:g.77574863_77574867delinsCAGGA , CM000675.1:g.77574863_77574867delinsCAGGA	GRCh37
NC_000013.9:g.76472864_76472868delinsCAGGA	NCBI36
NG_009064.1:g.13805_13809delinsCAGGA , LRG_692:g.13805_13809delinsCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.836_840delinsCAGGA (CLN5) MANE Select	ENSP00000366673.5:p.Thr279=
ENST00000616833.6:c.*278_*282delinsCAGGA (CLN5)	ENSP00000479547.3:n.*278_*282delinsCAGGA
ENST00000635838.1:c.174+4601_174+4605delinsCAGGA
ENST00000635905.1:n.566+4601_566+4605delinsCAGGA (CLN5)
ENST00000635915.1:c.834_838delinsCAGGA (CLN5)
ENST00000636183.2:c.836_840delinsCAGGA (CLN5)	ENSP00000490181.2:p.Thr279=
ENST00000636525.2:c.565+4601_565+4605delinsCAGGA (CLN5)	ENSP00000490078.2:n.565+4601_565+4605delinsCAGGA
ENST00000636681.1:c.*527_*531delinsCAGGA (CLN5)	ENSP00000489922.1:n.*527_*531delinsCAGGA
ENST00000636705.1:c.672_676delinsCAGGA (CLN5)
ENST00000636767.2:c.565+4601_565+4605delinsCAGGA (CLN5)	ENSP00000489855.2:n.565+4601_565+4605delinsCAGGA
ENST00000636780.2:c.*285_*289delinsCAGGA (CLN5)	ENSP00000489809.2:n.*285_*289delinsCAGGA
ENST00000637192.1:c.213+4601_213+4605delinsCAGGA
ENST00000637278.1:n.1162_1166delinsCAGGA (CLN5)
ENST00000637397.2:c.565+4601_565+4605delinsCAGGA (CLN5)	ENSP00000490422.2:n.565+4601_565+4605delinsCAGGA
ENST00000638101.1:c.169+4601_169+4605delinsCAGGA	ENSP00000490535.1:n.169+4601_169+4605delinsCAGGA
ENST00000638147.2:c.565+4601_565+4605delinsCAGGA	ENSP00000490953.2:n.565+4601_565+4605delinsCAGGA
ENST00000377453.7:c.983_987delinsCAGGA (CLN5)	ENSP00000366673.3:p.Thr328=
ENST00000477982.2:n.1577_1581delinsTCCTG (FBXL3)
ENST00000485797.2:n.174-7781_174-7777delinsTCCTG (FBXL3)
ENST00000616833.4:c.836_840delinsCAGGA (CLN5)	ENSP00000479547.1:p.Thr279=
NM_006493.2:c.983_987delinsCAGGA , LRG_692t1:c.983_987delinsCAGGA (CLN5)	NP_006484.1:p.Thr328=
XM_011534917.1:c.*285_*289delinsCAGGA (CLN5)	XP_011533219.1:n.*285_*289delinsCAGGA
NM_001366624.1:c.*285_*289delinsCAGGA (CLN5)	NP_001353553.1:n.*285_*289delinsCAGGA
NM_006493.3:c.836_840delinsCAGGA (CLN5)	NP_006484.2:p.Thr279=
XM_017020538.2:c.644-7781_644-7777delinsTCCTG (FBXL3)	XP_016876027.1:n.644-7781_644-7777delinsTCCTG
NM_001366624.2:c.*285_*289delinsCAGGA (CLN5)	NP_001353553.1:n.*285_*289delinsCAGGA
NM_006493.4:c.836_840delinsCAGGA (CLN5) MANE Select	NP_006484.2:p.Thr279=