Canonical Allele Identifier: CA2623294741

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992212_76992222dup , CM000675.2:g.76992212_76992222dup	GRCh38
NC_000013.10:g.77566347_77566357dup , CM000675.1:g.77566347_77566357dup	GRCh37
NC_000013.9:g.76464348_76464358dup	NCBI36
NG_009064.1:g.5289_5299dup , LRG_692:g.5289_5299dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006493.4:c.114_124dup MANE Select	NP_006484.2:p.Ser42PhefsTer?
ENST00000377453.9:c.114_124dup MANE Select	ENSP00000366673.5:p.Ser42PhefsTer?
NM_001366624.1:c.114_124dup	NP_001353553.1:p.Ser42PhefsTer?
NM_001366624.2:c.114_124dup	NP_001353553.1:p.Ser42PhefsTer?
NM_006493.2:c.261_271dup , LRG_692t1:c.261_271dup	NP_006484.1:p.Ser91PhefsTer?
NM_006493.3:c.114_124dup	NP_006484.2:p.Ser42PhefsTer?
ENST00000377453.7:c.261_271dup	ENSP00000366673.3:p.Ser91PhefsTer?
ENST00000485938.2:c.97_107dup
ENST00000485938.4:c.114_124dup	ENSP00000482959.3:p.Ser42PhefsTer?
ENST00000616833.4:c.114_124dup	ENSP00000479547.1:p.Ser42PhefsTer?
ENST00000616833.6:c.114_124dup	ENSP00000479547.3:p.Ser42PhefsTer?
ENST00000635905.1:n.115_125dup
ENST00000635915.1:c.53_63dup
ENST00000635989.1:n.124_134dup
ENST00000636183.2:c.114_124dup	ENSP00000490181.2:p.Ser42PhefsTer?
ENST00000636525.2:c.114_124dup	ENSP00000490078.2:p.Ser42PhefsTer?
ENST00000636767.2:c.114_124dup	ENSP00000489855.2:p.Ser42PhefsTer?
ENST00000636780.2:c.114_124dup	ENSP00000489809.2:p.Ser42PhefsTer?
ENST00000637397.2:c.114_124dup	ENSP00000490422.2:p.Ser42PhefsTer?
ENST00000637537.2:c.114_124dup	ENSP00000489711.2:p.Ser42PhefsTer?
ENST00000638147.2:c.114_124dup	ENSP00000490953.2:p.Ser42PhefsTer?
XM_011534917.1:c.261_271dup	XP_011533219.1:p.Ser91PhefsTer?