Canonical Allele Identifier: CA2103437244

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001141C= , CM000675.2:g.77001141C=	GRCh38
NC_000013.10:g.77575276C= , CM000675.1:g.77575276C=	GRCh37
NC_000013.9:g.76473277C=	NCBI36
NG_009064.1:g.14218C= , LRG_692:g.14218C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*172C= (CLN5) MANE Select	ENSP00000366673.5:n.*172C=
ENST00000616833.6:c.*691C= (CLN5)	ENSP00000479547.3:n.*691C=
ENST00000635838.1:c.174+5014C=
ENST00000635905.1:n.566+5014C= (CLN5)
ENST00000635915.1:c.1247C= (CLN5)
ENST00000636183.2:c.*172C= (CLN5)	ENSP00000490181.2:n.*172C=
ENST00000636525.2:c.565+5014C= (CLN5)	ENSP00000490078.2:n.565+5014C=
ENST00000636681.1:c.*940C= (CLN5)	ENSP00000489922.1:n.*940C=
ENST00000636705.1:c.1085C= (CLN5)
ENST00000636767.2:c.565+5014C= (CLN5)	ENSP00000489855.2:n.565+5014C=
ENST00000636780.2:c.*698C= (CLN5)	ENSP00000489809.2:n.*698C=
ENST00000637192.1:c.213+5014C=
ENST00000637278.1:n.1575C= (CLN5)
ENST00000637397.2:c.565+5014C= (CLN5)	ENSP00000490422.2:n.565+5014C=
ENST00000638101.1:c.169+5014C=	ENSP00000490535.1:n.169+5014C=
ENST00000638147.2:c.565+5014C=	ENSP00000490953.2:n.565+5014C=
ENST00000377453.7:c.*172C= (CLN5)	ENSP00000366673.3:n.*172C=
ENST00000477982.2:n.1168G= (FBXL3)
ENST00000485797.2:n.174-8190G= (FBXL3)
ENST00000616833.4:c.*172C= (CLN5)	ENSP00000479547.1:n.*172C=
NM_006493.2:c.*172C= , LRG_692t1:c.*172C= (CLN5)	NP_006484.1:n.*172C=
NM_001366624.1:c.*698C= (CLN5)	NP_001353553.1:n.*698C=
NM_006493.3:c.*172C= (CLN5)	NP_006484.2:n.*172C=
XM_017020538.2:c.644-8190G= (FBXL3)	XP_016876027.1:n.644-8190G=
NM_001366624.2:c.*698C= (CLN5)	NP_001353553.1:n.*698C=
NM_006493.4:c.*172C= (CLN5) MANE Select	NP_006484.2:n.*172C=