Canonical Allele Identifier: CA2623294688

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991998_76992010del , CM000675.2:g.76991998_76992010del	GRCh38
NC_000013.10:g.77566133_77566145del , CM000675.1:g.77566133_77566145del	GRCh37
NC_000013.9:g.76464134_76464146del	NCBI36
NG_009064.1:g.5075_5087del , LRG_692:g.5075_5087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-101_-89del	ENSP00000490181.2:n.-101_-89del
ENST00000377453.7:c.47_59del	ENSP00000366673.3:p.Gln16ProfsTer30
NM_006493.2:c.47_59del , LRG_692t1:c.47_59del	NP_006484.1:p.Gln16ProfsTer30
XM_011534917.1:c.47_59del	XP_011533219.1:p.Gln16ProfsTer30