Canonical Allele Identifier: CA912974893

Gene: CLN5 FBXL3

Linked Data

• MyVariant Identifiers: chr13:g.77570132_77570133del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995997_76995998del , CM000675.2:g.76995997_76995998del	GRCh38
NC_000013.10:g.77570132_77570133del , CM000675.1:g.77570132_77570133del	GRCh37
NC_000013.9:g.76468133_76468134del	NCBI36
NG_009064.1:g.9074_9075del , LRG_692:g.9074_9075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.435_436del (CLN5) MANE Select	ENSP00000366673.5:p.Phe146SerfsTer6
ENST00000485938.4:c.435_436del (CLN5)	ENSP00000482959.3:p.Phe146SerfsTer6
ENST00000616833.6:c.435_436del (CLN5)	ENSP00000479547.3:p.Phe146SerfsTer6
ENST00000635838.1:c.44_45del
ENST00000635905.1:n.436_437del (CLN5)
ENST00000635915.1:c.433_434del (CLN5)
ENST00000635989.1:n.502_503del (CLN5)
ENST00000636183.2:c.435_436del (CLN5)	ENSP00000490181.2:p.Phe146SerfsTer6
ENST00000636520.1:n.1947_1948del (CLN5)
ENST00000636525.2:c.435_436del (CLN5)	ENSP00000490078.2:p.Phe146SerfsTer6
ENST00000636602.1:n.381_382del (CLN5)
ENST00000636681.1:c.*126_*127del (CLN5)	ENSP00000489922.1:n.*126_*127del
ENST00000636705.1:c.271_272del (CLN5)
ENST00000636767.2:c.435_436del (CLN5)	ENSP00000489855.2:p.Phe146SerfsTer6
ENST00000636780.2:c.435_436del (CLN5)	ENSP00000489809.2:p.Phe146SerfsTer6
ENST00000637192.1:c.83_84del
ENST00000637278.1:n.761_762del (CLN5)
ENST00000637397.2:c.435_436del (CLN5)	ENSP00000490422.2:p.Phe146SerfsTer6
ENST00000637537.2:c.435_436del (CLN5)	ENSP00000489711.2:p.Phe146SerfsTer6
ENST00000638101.1:c.39_40del	ENSP00000490535.1:p.Phe14SerfsTer6
ENST00000638147.2:c.435_436del	ENSP00000490953.2:p.Phe146SerfsTer6
ENST00000377453.7:c.582_583del (CLN5)	ENSP00000366673.3:p.Phe195SerfsTer6
ENST00000485797.2:n.174-3047_174-3046del (FBXL3)
ENST00000485938.2:c.418_419del (CLN5)
ENST00000616833.4:c.435_436del (CLN5)	ENSP00000479547.1:p.Phe146SerfsTer6
NM_006493.2:c.582_583del , LRG_692t1:c.582_583del (CLN5)	NP_006484.1:p.Phe195SerfsTer6
XM_011534917.1:c.582_583del (CLN5)	XP_011533219.1:p.Phe195SerfsTer6
NM_001366624.1:c.435_436del (CLN5)	NP_001353553.1:p.Phe146SerfsTer6
NM_006493.3:c.435_436del (CLN5)	NP_006484.2:p.Phe146SerfsTer6
XM_017020538.2:c.644-3047_644-3046del (FBXL3)	XP_016876027.1:n.644-3047_644-3046del
NM_001366624.2:c.435_436del (CLN5)	NP_001353553.1:p.Phe146SerfsTer6
NM_006493.4:c.435_436del (CLN5) MANE Select	NP_006484.2:p.Phe146SerfsTer6