Canonical Allele Identifier: CA388314655

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000881G>A , CM000675.2:g.77000881G>A	GRCh38
NC_000013.10:g.77575016G>A , CM000675.1:g.77575016G>A	GRCh37
NC_000013.9:g.76473017G>A	NCBI36
NG_009064.1:g.13958G>A , LRG_692:g.13958G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006493.4:c.989G>A (CLN5) MANE Select	NP_006484.2:p.Trp330Ter
ENST00000377453.9:c.989G>A (CLN5) MANE Select	ENSP00000366673.5:p.Trp330Ter
NM_001366624.1:c.*438G>A (CLN5)	NP_001353553.1:n.*438G>A
NM_001366624.2:c.*438G>A (CLN5)	NP_001353553.1:n.*438G>A
NM_006493.2:c.1136G>A , LRG_692t1:c.1136G>A (CLN5)	NP_006484.1:p.Trp379Ter
NM_006493.3:c.989G>A (CLN5)	NP_006484.2:p.Trp330Ter
ENST00000377453.7:c.1136G>A (CLN5)	ENSP00000366673.3:p.Trp379Ter
ENST00000477982.2:n.1428C>T (FBXL3)
ENST00000485797.2:n.174-7930C>T (FBXL3)
ENST00000616833.4:c.989G>A (CLN5)	ENSP00000479547.1:p.Trp330Ter
ENST00000616833.6:c.*431G>A (CLN5)	ENSP00000479547.3:n.*431G>A
ENST00000635838.1:c.174+4754G>A
ENST00000635905.1:n.566+4754G>A (CLN5)
ENST00000635915.1:c.987G>A (CLN5)
ENST00000636183.2:c.989G>A (CLN5)	ENSP00000490181.2:p.Trp330Ter
ENST00000636525.2:c.565+4754G>A (CLN5)	ENSP00000490078.2:n.565+4754G>A
ENST00000636681.1:c.*680G>A (CLN5)	ENSP00000489922.1:n.*680G>A
ENST00000636705.1:c.825G>A (CLN5)
ENST00000636767.2:c.565+4754G>A (CLN5)	ENSP00000489855.2:n.565+4754G>A
ENST00000636780.2:c.*438G>A (CLN5)	ENSP00000489809.2:n.*438G>A
ENST00000637192.1:c.213+4754G>A
ENST00000637278.1:n.1315G>A (CLN5)
ENST00000637397.2:c.565+4754G>A (CLN5)	ENSP00000490422.2:n.565+4754G>A
ENST00000638101.1:c.169+4754G>A	ENSP00000490535.1:n.169+4754G>A
ENST00000638147.2:c.565+4754G>A	ENSP00000490953.2:n.565+4754G>A
XM_017020538.2:c.644-7930C>T (FBXL3)	XP_016876027.1:n.644-7930C>T