Canonical Allele Identifier: CA313864

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992151_76992156dup , CM000675.2:g.76992151_76992156dup	GRCh38
NC_000013.10:g.77566286_77566291dup , CM000675.1:g.77566286_77566291dup	GRCh37
NC_000013.9:g.76464287_76464292dup	NCBI36
NG_009064.1:g.5228_5233dup , LRG_692:g.5228_5233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.53_58dup MANE Select	ENSP00000366673.5:p.Ala19_Ala20insGlyAla
ENST00000485938.4:c.53_58dup	ENSP00000482959.3:p.Ala19_Ala20insGlyAla
ENST00000616833.6:c.53_58dup	ENSP00000479547.3:p.Ala19_Ala20insGlyAla
ENST00000635905.1:n.54_59dup
ENST00000635989.1:n.63_68dup
ENST00000636183.2:c.53_58dup	ENSP00000490181.2:p.Ala19_Ala20insGlyAla
ENST00000636525.2:c.53_58dup	ENSP00000490078.2:p.Ala19_Ala20insGlyAla
ENST00000636767.2:c.53_58dup	ENSP00000489855.2:p.Ala19_Ala20insGlyAla
ENST00000636780.2:c.53_58dup	ENSP00000489809.2:p.Ala19_Ala20insGlyAla
ENST00000637397.2:c.53_58dup	ENSP00000490422.2:p.Ala19_Ala20insGlyAla
ENST00000637537.2:c.53_58dup	ENSP00000489711.2:p.Ala19_Ala20insGlyAla
ENST00000638147.2:c.53_58dup	ENSP00000490953.2:p.Ala19_Ala20insGlyAla
ENST00000377453.7:c.200_205dup	ENSP00000366673.3:p.Ala68_Ala69insGlyAla
ENST00000485938.2:c.36_41dup
ENST00000616833.4:c.53_58dup	ENSP00000479547.1:p.Ala19_Ala20insGlyAla
NM_006493.2:c.200_205dup , LRG_692t1:c.200_205dup	NP_006484.1:p.Ala68_Ala69insGlyAla
XM_011534917.1:c.200_205dup	XP_011533219.1:p.Ala68_Ala69insGlyAla
NM_001366624.1:c.53_58dup	NP_001353553.1:p.Ala19_Ala20insGlyAla
NM_006493.3:c.53_58dup	NP_006484.2:p.Ala19_Ala20insGlyAla
NM_001366624.2:c.53_58dup	NP_001353553.1:p.Ala19_Ala20insGlyAla
NM_006493.4:c.53_58dup MANE Select	NP_006484.2:p.Ala19_Ala20insGlyAla