Canonical Allele Identifier: CA2799793056

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991986_76992003dup , CM000675.2:g.76991986_76992003dup	GRCh38
NC_000013.10:g.77566121_77566138dup , CM000675.1:g.77566121_77566138dup	GRCh37
NC_000013.9:g.76464122_76464139dup	NCBI36
NG_009064.1:g.5063_5080dup , LRG_692:g.5063_5080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-113_-96dup	ENSP00000490181.2:n.-113_-96dup
ENST00000377453.7:c.35_52dup	ENSP00000366673.3:p.Gly17_Gln18insArgAlaAspAlaGlnGly
NM_006493.2:c.35_52dup , LRG_692t1:c.35_52dup	NP_006484.1:p.Gly17_Gln18insArgAlaAspAlaGlnGly
XM_011534917.1:c.35_52dup	XP_011533219.1:p.Gly17_Gln18insArgAlaAspAlaGlnGly