Canonical Allele Identifier: CA2103435765

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000680G= , CM000675.2:g.77000680G=	GRCh38
NC_000013.10:g.77574815G= , CM000675.1:g.77574815G=	GRCh37
NC_000013.9:g.76472816G=	NCBI36
NG_009064.1:g.13757G= , LRG_692:g.13757G=

Transcript Alleles

HGVS	Amino-acid Change
NM_006493.4:c.788G= (CLN5) MANE Select	NP_006484.2:p.Ser263=
ENST00000377453.9:c.788G= (CLN5) MANE Select	ENSP00000366673.5:p.Ser263=
NM_001366624.1:c.*237G= (CLN5)	NP_001353553.1:n.*237G=
NM_001366624.2:c.*237G= (CLN5)	NP_001353553.1:n.*237G=
NM_006493.2:c.935G= , LRG_692t1:c.935G= (CLN5)	NP_006484.1:p.Ser312=
NM_006493.3:c.788G= (CLN5)	NP_006484.2:p.Ser263=
ENST00000377453.7:c.935G= (CLN5)	ENSP00000366673.3:p.Ser312=
ENST00000477982.2:n.1629C= (FBXL3)
ENST00000485797.2:n.174-7729C= (FBXL3)
ENST00000616833.4:c.788G= (CLN5)	ENSP00000479547.1:p.Ser263=
ENST00000616833.6:c.*230G= (CLN5)	ENSP00000479547.3:n.*230G=
ENST00000635838.1:c.174+4553G=
ENST00000635905.1:n.566+4553G= (CLN5)
ENST00000635915.1:c.786G= (CLN5)
ENST00000636183.2:c.788G= (CLN5)	ENSP00000490181.2:p.Ser263=
ENST00000636525.2:c.565+4553G= (CLN5)	ENSP00000490078.2:n.565+4553G=
ENST00000636681.1:c.*479G= (CLN5)	ENSP00000489922.1:n.*479G=
ENST00000636705.1:c.624G= (CLN5)
ENST00000636767.2:c.565+4553G= (CLN5)	ENSP00000489855.2:n.565+4553G=
ENST00000636780.2:c.*237G= (CLN5)	ENSP00000489809.2:n.*237G=
ENST00000637192.1:c.213+4553G=
ENST00000637278.1:n.1114G= (CLN5)
ENST00000637397.2:c.565+4553G= (CLN5)	ENSP00000490422.2:n.565+4553G=
ENST00000638101.1:c.169+4553G=	ENSP00000490535.1:n.169+4553G=
ENST00000638147.2:c.565+4553G=	ENSP00000490953.2:n.565+4553G=
XM_011534917.1:c.*237G= (CLN5)	XP_011533219.1:n.*237G=
XM_017020538.2:c.644-7729C= (FBXL3)	XP_016876027.1:n.644-7729C=