Canonical Allele Identifier: CA2103436960

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001001A= , CM000675.2:g.77001001A=	GRCh38
NC_000013.10:g.77575136A= , CM000675.1:g.77575136A=	GRCh37
NC_000013.9:g.76473137A=	NCBI36
NG_009064.1:g.14078A= , LRG_692:g.14078A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*32A= (CLN5) MANE Select	ENSP00000366673.5:n.*32A=
ENST00000616833.6:c.*551A= (CLN5)	ENSP00000479547.3:n.*551A=
ENST00000635838.1:c.174+4874A=
ENST00000635905.1:n.566+4874A= (CLN5)
ENST00000635915.1:c.1107A= (CLN5)
ENST00000636183.2:c.*32A= (CLN5)	ENSP00000490181.2:n.*32A=
ENST00000636525.2:c.565+4874A= (CLN5)	ENSP00000490078.2:n.565+4874A=
ENST00000636681.1:c.*800A= (CLN5)	ENSP00000489922.1:n.*800A=
ENST00000636705.1:c.945A= (CLN5)
ENST00000636767.2:c.565+4874A= (CLN5)	ENSP00000489855.2:n.565+4874A=
ENST00000636780.2:c.*558A= (CLN5)	ENSP00000489809.2:n.*558A=
ENST00000637192.1:c.213+4874A=
ENST00000637278.1:n.1435A= (CLN5)
ENST00000637397.2:c.565+4874A= (CLN5)	ENSP00000490422.2:n.565+4874A=
ENST00000638101.1:c.169+4874A=	ENSP00000490535.1:n.169+4874A=
ENST00000638147.2:c.565+4874A=	ENSP00000490953.2:n.565+4874A=
ENST00000377453.7:c.*32A= (CLN5)	ENSP00000366673.3:n.*32A=
ENST00000477982.2:n.1308T= (FBXL3)
ENST00000485797.2:n.174-8050T= (FBXL3)
ENST00000616833.4:c.*32A= (CLN5)	ENSP00000479547.1:n.*32A=
NM_006493.2:c.*32A= , LRG_692t1:c.*32A= (CLN5)	NP_006484.1:n.*32A=
NM_001366624.1:c.*558A= (CLN5)	NP_001353553.1:n.*558A=
NM_006493.3:c.*32A= (CLN5)	NP_006484.2:n.*32A=
XM_017020538.2:c.644-8050T= (FBXL3)	XP_016876027.1:n.644-8050T=
NM_001366624.2:c.*558A= (CLN5)	NP_001353553.1:n.*558A=
NM_006493.4:c.*32A= (CLN5) MANE Select	NP_006484.2:n.*32A=