Canonical Allele Identifier: CA2623294722

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992106_76992130dup , CM000675.2:g.76992106_76992130dup	GRCh38
NC_000013.10:g.77566241_77566265dup , CM000675.1:g.77566241_77566265dup	GRCh37
NC_000013.9:g.76464242_76464266dup	NCBI36
NG_009064.1:g.5183_5207dup , LRG_692:g.5183_5207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.8_32dup MANE Select	ENSP00000366673.5:p.Glu12GlyfsTer?
ENST00000485938.4:c.8_32dup	ENSP00000482959.3:p.Glu12GlyfsTer?
ENST00000616833.6:c.8_32dup	ENSP00000479547.3:p.Glu12GlyfsTer?
ENST00000635905.1:n.9_33dup
ENST00000635989.1:n.18_42dup
ENST00000636183.2:c.8_32dup	ENSP00000490181.2:p.Glu12GlyfsTer?
ENST00000636525.2:c.8_32dup	ENSP00000490078.2:p.Glu12GlyfsTer?
ENST00000636767.2:c.8_32dup	ENSP00000489855.2:p.Glu12GlyfsTer?
ENST00000636780.2:c.8_32dup	ENSP00000489809.2:p.Glu12GlyfsTer?
ENST00000637397.2:c.8_32dup	ENSP00000490422.2:p.Glu12GlyfsTer?
ENST00000637537.2:c.8_32dup	ENSP00000489711.2:p.Glu12GlyfsTer?
ENST00000638147.2:c.8_32dup	ENSP00000490953.2:p.Glu12GlyfsTer?
ENST00000377453.7:c.155_179dup	ENSP00000366673.3:p.Glu61GlyfsTer?
ENST00000616833.4:c.8_32dup	ENSP00000479547.1:p.Glu12GlyfsTer?
NM_006493.2:c.155_179dup , LRG_692t1:c.155_179dup	NP_006484.1:p.Glu61GlyfsTer?
XM_011534917.1:c.155_179dup	XP_011533219.1:p.Glu61GlyfsTer?
NM_001366624.1:c.8_32dup	NP_001353553.1:p.Glu12GlyfsTer?
NM_006493.3:c.8_32dup	NP_006484.2:p.Glu12GlyfsTer?
NM_001366624.2:c.8_32dup	NP_001353553.1:p.Glu12GlyfsTer?
NM_006493.4:c.8_32dup MANE Select	NP_006484.2:p.Glu12GlyfsTer?