Canonical Allele Identifier: CA2995739963

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991997_76991998del , CM000675.2:g.76991997_76991998del	GRCh38
NC_000013.10:g.77566132_77566133del , CM000675.1:g.77566132_77566133del	GRCh37
NC_000013.9:g.76464133_76464134del	NCBI36
NG_009064.1:g.5074_5075del , LRG_692:g.5074_5075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-102_-101del	ENSP00000490181.2:n.-102_-101del
ENST00000377453.7:c.46_47del	ENSP00000366673.3:p.Gln16GlyfsTer?
NM_006493.2:c.46_47del , LRG_692t1:c.46_47del	NP_006484.1:p.Gln16GlyfsTer?
XM_011534917.1:c.46_47del	XP_011533219.1:p.Gln16GlyfsTer?