Canonical Allele Identifier: CA2995739964

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991997dup , CM000675.2:g.76991997dup	GRCh38
NC_000013.10:g.77566132dup , CM000675.1:g.77566132dup	GRCh37
NC_000013.9:g.76464133dup	NCBI36
NG_009064.1:g.5074dup , LRG_692:g.5074dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-102dup	ENSP00000490181.2:n.-102dup
ENST00000377453.7:c.46dup	ENSP00000366673.3:p.Gln16ProfsTer?
NM_006493.2:c.46dup , LRG_692t1:c.46dup	NP_006484.1:p.Gln16ProfsTer?
XM_011534917.1:c.46dup	XP_011533219.1:p.Gln16ProfsTer?