Canonical Allele Identifier: CA2499223693
Community Standard Title: NM_199355.4(ADAMTS18):c.2813del (p.Gly938ValfsTer?)
Gene: ADAMTS18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.77295117del , CM000678.2:g.77295117del GRCh38
NC_000016.9:g.77329014del , CM000678.1:g.77329014del GRCh37
NC_000016.8:g.75886515del NCBI36
NG_031879.1:g.144999del
NG_031879.2:g.144999del

Transcript Alleles

HGVS Amino-acid Change
NM_199355.4:c.2813del MANE Select NP_955387.1:p.Gly938ValfsTer?
ENST00000282849.10:c.2813del MANE Select ENSP00000282849.5:p.Gly938ValfsTer?
NM_001326358.1:c.2297del NP_001313287.1:p.Gly766ValfsTer?
NM_001326358.2:c.2297del NP_001313287.1:p.Gly766ValfsTer?
NM_199355.2:c.2813del NP_955387.1:p.Gly938ValfsTer?
NM_199355.3:c.2813del NP_955387.1:p.Gly938ValfsTer?
ENST00000282849.9:c.2813del ENSP00000282849.5:p.Gly938ValfsTer?
XM_006721158.2:c.725del XP_006721221.1:p.Gly242ValfsTer?
XM_011522923.1:c.2297del XP_011521225.1:p.Gly766ValfsTer?
XM_011522924.1:c.2297del XP_011521226.1:p.Gly766ValfsTer?
XM_011522924.2:c.2297del XP_011521226.1:p.Gly766ValfsTer?
XM_017022988.2:c.1577del XP_016878477.1:p.Gly526ValfsTer?
XM_017022989.1:c.1577del XP_016878478.1:p.Gly526ValfsTer?