Canonical Allele Identifier: CA2576067269
Gene: ADAMTS18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.77294918_77294919del , CM000678.2:g.77294918_77294919del GRCh38
NC_000016.9:g.77328815_77328816del , CM000678.1:g.77328815_77328816del GRCh37
NC_000016.8:g.75886316_75886317del NCBI36
NG_031879.1:g.145197_145198del
NG_031879.2:g.145197_145198del

Transcript Alleles

HGVS Amino-acid change
ENST00000282849.10:c.3006+5_3006+6del MANE Select ENSP00000282849.5:n.3006+5_3006+6del
ENST00000282849.9:c.3006+5_3006+6del ENSP00000282849.5:n.3006+5_3006+6del
NM_199355.2:c.3006+5_3006+6del NP_955387.1:n.3006+5_3006+6del
XM_006721158.2:c.918+5_918+6del XP_006721221.1:n.918+5_918+6del
XM_011522923.1:c.2490+5_2490+6del XP_011521225.1:n.2490+5_2490+6del
XM_011522924.1:c.2490+5_2490+6del XP_011521226.1:n.2490+5_2490+6del
NM_001326358.1:c.2490+5_2490+6del NP_001313287.1:n.2490+5_2490+6del
NM_199355.3:c.3006+5_3006+6del NP_955387.1:n.3006+5_3006+6del
XM_011522924.2:c.2490+5_2490+6del XP_011521226.1:n.2490+5_2490+6del
XM_017022988.2:c.1770+5_1770+6del XP_016878477.1:n.1770+5_1770+6del
XM_017022989.1:c.1770+5_1770+6del XP_016878478.1:n.1770+5_1770+6del
NM_199355.4:c.3006+5_3006+6del MANE Select NP_955387.1:n.3006+5_3006+6del
NM_001326358.2:c.2490+5_2490+6del NP_001313287.1:n.2490+5_2490+6del