Canonical Allele Identifier: CA7007074

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991994_76992018del , CM000675.2:g.76991994_76992018del	GRCh38
NC_000013.10:g.77566129_77566153del , CM000675.1:g.77566129_77566153del	GRCh37
NC_000013.9:g.76464130_76464154del	NCBI36
NG_009064.1:g.5071_5095del , LRG_692:g.5071_5095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-105_-81del	ENSP00000490181.2:n.-105_-81del
ENST00000377453.7:c.43_67del	ENSP00000366673.3:p.Ala15ProfsTer27
NM_006493.2:c.43_67del , LRG_692t1:c.43_67del	NP_006484.1:p.Ala15ProfsTer27
XM_011534917.1:c.43_67del	XP_011533219.1:p.Ala15ProfsTer27