Canonical Allele Identifier: CA2623294721

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992104_76992121dup , CM000675.2:g.76992104_76992121dup	GRCh38
NC_000013.10:g.77566239_77566256dup , CM000675.1:g.77566239_77566256dup	GRCh37
NC_000013.9:g.76464240_76464257dup	NCBI36
NG_009064.1:g.5181_5198dup , LRG_692:g.5181_5198dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.6_23dup MANE Select	ENSP00000366673.5:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000485938.4:c.6_23dup	ENSP00000482959.3:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000616833.6:c.6_23dup	ENSP00000479547.3:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000635905.1:n.7_24dup
ENST00000635989.1:n.16_33dup
ENST00000636183.2:c.6_23dup	ENSP00000490181.2:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000636525.2:c.6_23dup	ENSP00000490078.2:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000636767.2:c.6_23dup	ENSP00000489855.2:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000636780.2:c.6_23dup	ENSP00000489809.2:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000637397.2:c.6_23dup	ENSP00000490422.2:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000637537.2:c.6_23dup	ENSP00000489711.2:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000638147.2:c.6_23dup	ENSP00000490953.2:p.Ala8_Gln9insGlnGluValAspThrAla
ENST00000377453.7:c.153_170dup	ENSP00000366673.3:p.Ala57_Gln58insGlnGluValAspThrAla
ENST00000616833.4:c.6_23dup	ENSP00000479547.1:p.Ala8_Gln9insGlnGluValAspThrAla
NM_006493.2:c.153_170dup , LRG_692t1:c.153_170dup	NP_006484.1:p.Ala57_Gln58insGlnGluValAspThrAla
XM_011534917.1:c.153_170dup	XP_011533219.1:p.Ala57_Gln58insGlnGluValAspThrAla
NM_001366624.1:c.6_23dup	NP_001353553.1:p.Ala8_Gln9insGlnGluValAspThrAla
NM_006493.3:c.6_23dup	NP_006484.2:p.Ala8_Gln9insGlnGluValAspThrAla
NM_001366624.2:c.6_23dup	NP_001353553.1:p.Ala8_Gln9insGlnGluValAspThrAla
NM_006493.4:c.6_23dup MANE Select	NP_006484.2:p.Ala8_Gln9insGlnGluValAspThrAla